MedWorm provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest medical blog items that have been tagged with 'dna direct'. Sat, 03 Sep 2011 02:29:05 +0100 http://www.medworm.com/index.php?rid=3885345&cid=t_112333_87_f&fid=39187&url=http%3A%2F%2Fgetbetterhealth.com%2Fthe-dna-dilemma%2F2010.08.19 Mary Carmichael of Newsweek had a great series of articles focusing on direct-to-consumer genetic testing. An excerpt: I’ve been following DTC genetics since 2007, when wide scanning first became available to the public. Since then, a number of writers have gotten wide-scale genetic tests and expounded on the results. Indeed, I sometimes wonder if I’m the last science reporter on earth with virgin genes. (Technical virgin: My doctor gave me a cystic fibrosis carrier test when I was pregnant.) Initially, I put off getting a full-genome scan because I wasn’t sure how useful such a test would be. I had no particular reason to take one, save curiosity. I wouldn’t expect to find anything serious and potentially life-altering like the Huntington’s disease gene in my results, because ... Better Health blogs http://www.medworm.com/rss/comments.php?id=3885345 Thu, 19 Aug 2010 16:00:08 +0100 3885345 http://www.medworm.com/index.php?rid=3655735&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F06%2Fi-am-glad-we-can-all-put-this-behind-us.html As you now may be aware. DTCG is considered a medical diagnostic according to the FDA. I look forward working with companies who may now allow me to use their tests for medicine. The Sherpa Says: If we work together, we can deliver the best preventative and personalized care in the world! (Source: Gene Sherpas: Personalized Medicine and You) Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3655735 Fri, 11 Jun 2010 17:46:00 +0100 3655735 http://www.medworm.com/index.php?rid=3652583&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F06%2Fcellulite-on-your-bod-blame-your-genes.html Could I go on a huge rant about 23andMes mess up and how it was discovered by a customer rather than LabCorp or 23andMe?Yes. Would it be useful?No.Why?I need to save my rants, and any doctor will tell you, labs screw up all the time.It is something we are used to thinking.So much so, that a knee jerk answer for a lot of doctors is to repeat a test if the results are so far out there.......So, my rant today will be directly placed at the rocket scientists who dreamed up CelluliteDX"The CelluliteDX Genetic Test is only available for sale through participating physicians' offices. If you would like to learn more about the CelluliteDX Genetic Test and receive a Welcome Package to establish your office as a CelluliteDX Genetic Test provider, please contact us Monday through Friday between 8 a.... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3652583 Fri, 11 Jun 2010 01:26:00 +0100 3652583 http://www.medworm.com/index.php?rid=3632382&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F06%2Fdtc-genomics-adjusts-for-regulations.html In a blatantly obvious, why the hell werent they doing that in the first place? move.23andSerge acknolwedges, finally, that they ARE Providing clinically important work. Duh, Since the website won't let me copy the presser, I will quote, with my own translation through business BS speak."23andMe customers now have the option to speak with a board certified genetic counselor" -Translation, we realized that by testing BRCA mutations we put people at risk and needed some back up from someone who knows what the FCUK they are doing opposed to a VC billionaire babe and ruby on rails programmer kids.-Because, frankly, we don't want to get sued or go to jail......Like Liz Dragon...... "We chose Informed because they were the leading independent genetic counseling provider"-Translation, we alienate... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3632382 Fri, 04 Jun 2010 22:26:00 +0100 3632382 http://www.medworm.com/index.php?rid=3618025&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F06%2F5-days-after-quake-critique.html I want to know, when everyone got all upset with my review of the Quake paper and bashed me on this blog. Why?Why did no one post on the Viewpoint put out in The Lancet exactly 5 days after my review?What did my review say? You can read my analysis of the Quake Paper here.I will keep this brief, as I will be speaking precisely on this topic on Thursday at the Consumer Genomics Conference.Maybe no one read the viewpoint?Today I was able to read the "Challenges in the clinical application of whole genome sequencing" Viewpoint from Ormond et.al.It echoes every single thing I have been saying for the last 2 years. Not that any of this is news for those of us in "the know" But it is confirmation that people who include a DIRECT Advisor to 23andMe agree with my stance.However, there are some thi... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3618025 Tue, 01 Jun 2010 15:15:00 +0100 3618025 http://www.medworm.com/index.php?rid=3585611&cid=t_112333_87_f&fid=39187&url=http%3A%2F%2Fgetbetterhealth.com%2Fcurious-about-your-dna-just-stop-by-walgreens%2F2010.05.20 I’ve been writing about personal genomics for years. The standard concept of it is that you can order such genetic tests online, send your saliva or buccal swab to the lab where they analyze your DNA, then you can check online what kind of diseases you have elevated or lowered risk for. That’s how Navigenics, 23andMe or Pathway Genomics works. Now Pathway had a major announcement: San Diego based startup Pathway Genomics announced [May 18th] that it will begin selling its DNA collection kits at Walgreens drugstores beginning in mid-May, for about $20 to $30. Unlike a pregnancy test, users won’t be able to get results immediately. They will have to send in their saliva sample and then go to Pathway’s website to select the particular test they want. Users choose from drug response ... Better Health blogs http://www.medworm.com/rss/comments.php?id=3585611 Thu, 20 May 2010 16:00:07 +0100 3585611 http://www.medworm.com/index.php?rid=3519622&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F04%2F2c19-navigenics-and-clinical-reality.html Ok,I would like to welcome Navigenics to the world of Clinical Utility. Just yesterday they announced their pharmacogenomics panel available to both consumers and physicians. It is about time! However, the problem I see is threefold:1. Where is the price of the test? Anything more than 200 won't work.2. Is there a change in the terms of service, which allows me as the doctor to use it?3. Will insurance pay for it?Let's say that this is not intended for the doctor but instead just for the patient/consumer. Which Navigenics has agreed NOT To Do, At least in NY.What exactly do you expect the consumer to do with this information?? Stop Plavix? Don't you Dare!Write themselves a prescription? Ummmmm, OK. Oh No, these tests are specifically for medical use.Disagree? Merely the information itself ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3519622 Thu, 29 Apr 2010 12:28:00 +0100 3519622 http://www.medworm.com/index.php?rid=3236013&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F02%2Fholy-crap-medco-follows-in-cvs.html By December 21st the writing was on the wall. It was pretty obvious CVS/Caremark had jumped over the number one PBM in the field MedCo..... How so?Well, the increased ownership in Generation Health that CVS/Caremark laid down was the way.....The newest of the benefits management companies.....this time the focus was on genetic testing benefits. Personally, this type of company should have been formed in 2005 when Insurers were hemorrhaging cash from those BRCA tests........But, slow and deliberate do Insurers move.... On the 21st it of December it was all but decided for MedCo. Ummm, Ummmmm, who looks like this Generation Health company????? I knew back then and now everyone knows today. MedCo buys DNADirect.....In 2005 when My Partner at the time Leslie Manace went out to "see" Ryan......... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3236013 Wed, 03 Feb 2010 00:19:00 +0100 3236013 http://www.medworm.com/index.php?rid=3111606&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F11%2Fgood-enough-science-apparently-so-at_6680.html "A total of 61 individuals involved in five norovirus outbreaks in Denmark were genotyped at nucleotides 428 and 571 of the FUT2 gene, determining secretor status, i.e., the presence of ABH antigens in secretions and on mucosa. A strong correlation (P 0.003) was found between the secretor phenotype and symptomatic disease, extending previous knowledge and confirming that nonsense mutations in the FUT2 gene provide protection against symptomatic norovirus (GGII.4) infections." This from a report at 23andSerge's "Norovirus Resistance" report.I don't know what I would do with a Norovirus resistance report........Go on more cruises? Work in a daycare? Have more kids?I bring this up because I begin to wonder what level of science is good science.Is highlighting every article as useful as highli... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3111606 Thu, 05 Nov 2009 03:34:00 +0100 3111606 http://www.medworm.com/index.php?rid=2637951&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F07%2Fgo-see-gastro-doc.html I am so blown away at the desperation (def: recklessness arising from despair) of the DTC companies. Recently my iPhone has been flooded with all sorts of clinically inaccurate information designed to make people think that something miraculously has changed with DTC genomics tests. A change so impressive that it now appears as if you can actually do something about the results. The best is a video now on Navi's website2 sisters on the site taking about their results......likely plants...... The transcript includes these misleading words.......Sister 1: We both tested "High" For Colon Cancer! Sister 1: But the Crohn's disease was "really high" on my results. Which is interesting because, I didn't know we had that disease in our family...... Sister 2: It is a disease that is 75% genetic but... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2637951 Fri, 24 Jul 2009 14:32:00 +0100 2637951 http://www.medworm.com/index.php?rid=2584331&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F07%2Fviva-la-revolucion-dtc-genomics.html Ok,I am not late to the party here on this one. I have been talking about this for quite some time with posts which include"We have No use for YOUR laws""Who Needs Institutional Review Boards""Steal Your Baby's Genome"I could go on and on here, but this is a natural move here.......23andSergey have decided to move the company into a space which is less likely to get them into hot water with the federal government and in fact may win them a few points with the Federales....Why? Everyone knows the end game here. A huge database of millions of phenotypes paired with millions of genotypes and millions of metabolomes and millions of demographics........With that you create the greatest query machine for human health, generate hypotheses from this and cure mankind of illness. That being said, wh... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2584331 Wed, 08 Jul 2009 12:01:00 +0100 2584331 http://www.medworm.com/index.php?rid=2571003&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F07%2Fsmoke-or-ht-gets-in-your-eye.html This study interested me for several reasons, the first of these was that it involved a hotly debated environmental detoxification gene which has been tested for by numerous nutrigenetics companies for years now. The second reason it interested me is because it dealt with a population who knows that there family can get cancer when exposed to smoking. I have always wondered for years why there are these families out there who have multiple members with lung cancer, yet everyone in the family seems to keep on puffing. Are these families full of ignorant people who can't put 2 and 2 together despite years of public health campaigns? Are the genetically or environmentally predisposed to smoking? Does the family have some weird death wish set of genes?I have always wondered why they do what th... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2571003 Fri, 03 Jul 2009 12:46:00 +0100 2571003 http://www.medworm.com/index.php?rid=2561483&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F07%2Fno-gene-is-island.html This is a saying I have been using for about 4 years now.When someone asked about testing for HFE and why we don't do it as the first screening step anymore..... They often looked at me confused.....I then bring up the case of sickle cell disease.Most doctors have seen a sickle cell patient in the hospital.......They may have even seen a family in the hospital, brother and sister, Son and Mother......but what most don't know is that the majority of sicklers never go into the hospital..... That's when I ask, what is the mutation that the son and mother have? The answer Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position. Now what about the patie... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2561483 Wed, 01 Jul 2009 12:08:00 +0100 2561483 http://www.medworm.com/index.php?rid=2517362&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F06%2F23andmx-looking-to-cook-books-in-ca.html Daniel MacArthur and I have been noticing something and he decided to cover it today, which is why I have decided to provide a counterpoint here....Also GenomeWeb published on this. SB 482 is a bill I glossed over in a post in the past and was recently interviewed for in the San Jose Mercury News....... Daniel leads this as 23andMx leading the regulatory push.....but this is more insidious than that. This is 23andMx trying to cook the books and create laws which exempt them from the stringent regulation which they should receive...... I told this to the newsies over at San Jose on Sunday, so I am going to post this today...... It turns out that this bill SB 482 essentially exempts DTC companies from facing the harshest regulations that medical providers/labs have to face From Daniel"In oth... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2517362 Thu, 25 Jun 2009 15:56:00 +0100 2517362 http://www.medworm.com/index.php?rid=2512315&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F06%2Ffactor-v-leiden-testing-not-useful.html I was at morning report about 6 months ago after hearing a talk from the Leiden people. It turns out they had never intended the testing to be used the way it has in the US.In fact, it seems for the last few years, everywhere you turned, every doctor was doing genetic testing......this time not for Hemochromatosis, which, again is not particularly useful as a screening test for disease state. This given the low penetrence and of the disease in those who have the mutations (Which is once again why DTC HFE testing is silly)This time it was for Prothrombotic state with Factor V Leiden and GP20210A mutations/polymorphisms.Why did we do this? Well, we ere taught that having these mutations put these patients at risk of having Deep Vein Thrombosis. Even perhaps that we give aspirin or blood thin... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2512315 Thu, 18 Jun 2009 08:45:00 +0100 2512315 http://www.medworm.com/index.php?rid=2512316&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F06%2Flove-my-readers.html The other day I was flooded with emails from my readers about my post about the whole genome scan dirty little secret. Some agreed with me others vociferously defended the need for "further study" But the best was an email from someone who worked for one of the big scan companies, can't say which one, can't say who.I Quote"The speculative questions that you ask about interpreting whole genome sequencing indirectly relates to exactly what the cyclical problem is with an industry of genomic researchers who don’t practice science. Instead, they practice following the recommendations and protocols developed by instrumentation vendors, as if Mike Hunkapillar, Sue Siegel, and Jay Flatley had once parted the Red Sea"I tend to agree that this comes down to a question of thought leaders in the fi... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2512316 Tue, 16 Jun 2009 13:07:00 +0100 2512316 http://www.medworm.com/index.php?rid=2464330&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F06%2Fprior-authorization-for-medically.html As if this couldn't get any worse for genetic counselors, who BTW get paid next to nothing by insurers........ United Healthcare is now requiring Prior Authorization for BRCA testing. In their policy bulletin from May, Volume 31.......The coverage determination made regarding BRCA testing for your patient will be based on the UnitedHealthcare medical policy for BRCA testing, which is based on the clinical evidence and is closely aligned with the criteria developed by the organizations listed above. This coverage determination will be conveyed to you promptly by either phone, or letter or both. Of course, adverse determinations are subject to all applicable appeal rights.Add that to the list of scut work which the counselor will get stuck doing.... So much for same day testing in a timely f... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2464330 Mon, 08 Jun 2009 14:58:00 +0100 2464330 http://www.medworm.com/index.php?rid=2463191&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F06%2Frs2200733-ok-now-what.html I am busy pouring through all sorts of association studies which I had let sort of slip through my fingers. I have been cue'ing a lot of these and only in the last few days have been able to get to them. Most of the SNP that the press put out there now seems to be dying off pretty nicely.Although there are bits of useful data out there, most is just noise......but one of the SNPs which caught my eye was rs2200733 studied in Icelandic, Italian and other Caucasian populations with a small replication in an Asian population as well......What does rs2200733 predispose to? Atrial Fibrillation. A condition that can lead to unannounced strokes, syncope, and heart failure (at times) Atrial fibrillation is the most common arrhythmia in the United States. About 2.3 million Americans have atrial fib... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2463191 Mon, 08 Jun 2009 12:05:00 +0100 2463191 http://www.medworm.com/index.php?rid=2452969&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F06%2Fgappnet-hacked-records-and-icob.html Happy Donut Day Everyone!"Wha?"That's what I said as I walked into my Dunkin Donuts across the street from our new HQ. The guy saw me coming in, prepped my coffee, Large Blueberry, Milk and Sugar......As I went to pay, he said, "Happy Donut Day" I barely understood what he said when the manager said "Pick your donut, FREE"OMG, as if I wasn't fat enough. How many other of my readers took the free Donut today. I looked around in my DD and it seemed everyone took the donut.People certainly are game for free......... Speaking of FREE, the Coriell Personalized Medicine Collaborative is in essence a Navi/23andM- scan for FREE. I just got some more results this week. I don't have Hemochromatosis HFE type, Hooray! This can be yours as well.....That is if you are willing to participate in the study... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2452969 Fri, 05 Jun 2009 12:44:00 +0100 2452969 http://www.medworm.com/index.php?rid=2447962&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F06%2Fwonderful-weekend-consumer-genomics.html First, a little personal info. I am the proud father of yet another Murphy Daughter! This weekend has been amazing for me. Even better, as we went into the hospital I received an email. Normally the only people emailing at this time are my patients or I am getting results from lab tests I ordered.So, I felt obligated to look when the iPhone buzzed. It was an email from John Boyce....... Who is John Boyce? From his website: John recently served as Head of Business Development for Helicos BioSciences, where he was responsible for identifying new market opportunities in which the company was able to develop new applications that gave it a substantial competitive advantage. John founded Delphi Bio a strategic consulting group for genomic start ups....... So about a week after I got done trashi... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2447962 Mon, 01 Jun 2009 12:15:00 +0100 2447962 http://www.medworm.com/index.php?rid=2442245&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Flong-weekend-lots-to-cover.html First, I want to thank reporter Devon Lash at the Stamford Advocate, who wrote a very nice piece about the CT State Dept. of Health asking seniors to speak up about diseases in their family. So many people didn't speak of these things just a few decades ago, but they need to. The article misstates what I said, which is nearly over 40% of women were reclassified when using the Reynolds Risk score in comparison with the Framingham. But I think you get the idea. Public Health Departments are now pushing Family Histories......NOT SNP SCANS..... Often I am presented with a patient who says "They never spoke about it". I tell that patient to go to their family member and "Make them speak about it" What they tell you may just save YOUR life. In Detroit they are doing the same thingI am glad we... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2442245 Tue, 26 May 2009 12:41:00 +0100 2442245 http://www.medworm.com/index.php?rid=2405803&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Frip-richard-grasso.html Yes,Richard Grasso. No not Dick Grasso. Rich Grasso, a good friend and uncle died Thursday. Since then I have been struggling to find meaning in what I do. My Uncle, well, my uncle-in-law, was one heck of a guy who lived life to the fullest. He had so many friends. I remember meeting "The Family" when I was dating my wife and how scared I was......Richard said, don't sweat it, we don't bite......except for Nanny.He always had a way of making me feel warm and loved. He gave the best hugs and always gave great advice. Unfortunately, he died because he forgot to do one simple thing. He forgot to wear his seat belt. He was thrown from his car and that's what killed him. It seems to me, after this swine flu thing and now with my uncle.....all of this overbloated hype about genomes saving the wo... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2405803 Wed, 13 May 2009 12:21:00 +0100 2405803 http://www.medworm.com/index.php?rid=2405804&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Fthoracic-aortic-aneurysms-and-stroke.html Today I am writing to bring your attention to another gene found in Thoracic Aortic Aneurysm. There is a nice genetic review on the subject at GeneTests.orgThe problem with Aneurysms is that they are essentially ticking time bombs in the body often waiting to explode and ultimately kill you by bleeding in your brain, chest or belly. Kind of makes SNP scans look silly compared to the life and death issues here. In fact, sometimes armed with merely a family history you can find these people and save their lives. Cardiovascular manifestations of familial thoracic aortic aneurysms and aortic dissections (TAAD) include: (1) dilatation of the aorta at the level of either the ascending aorta or the sinuses of Valsalva; and (2) aneurysms and dissections of the thoracic aorta involving either the a... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2405804 Mon, 11 May 2009 11:53:00 +0100 2405804 http://www.medworm.com/index.php?rid=2399044&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Ffridays-doctor-using-nonclinically.html Dr Turrisi,An otherwise fine doctor, I am certain, has decided to use a clinically unvalidated tool in his practice. It is known as the Navigenics Health Compass. You can find him here. Or here on Vitals.comLike I said before. I will highlight each and every one of these doctors who are using a clinically unvalidated tool to treat patients. Since Navigenics has decided to put it on the record. I will as well. Dr. Turrisi is one of 31 physicians in the MDVIP network who are using this test. Or at least claim to be. Dr Turrisi is a Pulmonlogist and an Internist. He went to medical school in 1978. I wonder how much has changed in the field of genetics since then?The Sherpa Says: MDVIP consists of 280 primary care physicians who serve more than 100,000 patients nationwide. I wonder why 10% are... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2399044 Fri, 08 May 2009 12:24:00 +0100 2399044 http://www.medworm.com/index.php?rid=2390175&cid=t_112333_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FNEmnSTQkrV4%2F Last month I told you about an innovative partnership that brings community healthcare into the 21st century. The Genomic Medicine Institute was launched at Silicon Valley’s El Camino Hospital together with DNA Direct to enable physicians and their patients access to leading-edge genomic services. Physician studying DNA radiograph. Image: Newscom Genomic Medicine Institute was created so that patients can be better directed in their decisions about their medical conditions, especially when it comes to using genetic tests and counseling. For example, when someone finds out she has breast cancer, one of the questions that is asked is will she pass it to her daughter? Should she tell her sisters about it? Should she have mastectomy? Should her daughter have mastectomies? Difficult quest... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2390175 Wed, 06 May 2009 17:42:41 +0100 2390175 http://www.medworm.com/index.php?rid=2390158&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Flots-to-recap-today.html First, in support of Francis Collins' efforts. I am a God believing scientist/physician. Why? Can you explain "spooky science" of photons? No? Are there some things in this world which are a mystery? Yes. I choose God to explain that mystery for me.Because as a human it is beyond my ability to conceive of it. Maybe someday Singularity will "save me" but I doubt it.Second, To explain Germany's move without resorting to "It's designed to make doctors money"Which BTW is the stupidest argument I have ever heard coming from a country with Nationalized Medicine. Doctors make what they make and that's all. Why try to find new revenue streams for someone who's salary is capped? Do they really think this would bring Doctors to their country? Wrong!Here's why they are outlawing this and why comparat... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2390158 Wed, 06 May 2009 12:30:00 +0100 2390158 http://www.medworm.com/index.php?rid=2382675&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Fdr-topol-i-agree-with-you-patient.html Dr. Topol, who like myself is involved in a Cohort analysis of SNP scans and there effects on health behaviors has a video blog post about the recent Bad Press that SNP scans have gotten.More importantly, the bad press that DTC genomic companies have gotten. For full disclosure, I am not affiliated with ANY of the DTC SNP scan companies BTW, CPMC was the first study of this kind, not Scripps.Dr Topol says that there are articles which were published in the NEJM and they were reviewed by me a week or so ago......These articles obviously have caused "consternation"He states that he approaches this from several perspectives and addresses his research. There is the "Nihilistic Approach" that if you have an OR of 2 or greater that it is likely that this risk science is not going to go away and ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2382675 Fri, 01 May 2009 12:19:00 +0100 2382675 http://www.medworm.com/index.php?rid=2349209&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F04%2Fdeath-knell-to-dtc-genomics.html I was sent this article 6 times in the last 6 hours by friends and colleagues.What's the article? "Genes Show Limited Value in Predicting Diseases" I say deathblow to the DTC Genomics, because this article points out the issues surrounding using this limited information......"This method, called a genomewide association study, has proved technically successful despite many skeptics’ initial doubts. But it has been disappointing in that the kind of genetic variation it detects has turned out to explain surprisingly little of the genetic links to most diseases."What are the majority of reports you can get from 23andME or Navigenics or DecodeMe?Reports which rely on "GENOMEWIDE ASSOCIATION STUDIES"Not that there aren't any great genome wide associations......I think of Age Related Macular D... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2349209 Thu, 16 Apr 2009 12:39:00 +0100 2349209 http://www.medworm.com/index.php?rid=2349210&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F04%2Fdeath-knell-to-cancer-genetic.html ACOG has finally come around. They are now beginning to realize that it IS the responsibility of the OB/GYN to evaluate cancer risks. In this case BRCA1/2. Soon I imagine they will learn to appreciate the risk of Lynch Syndrome with their Endometrial cases.All of this could spell trouble for the cancer genetic counselors in this country. OR it could mean a bunch of referrals. It all depends........ACOG practice bulletin 103 recently published says "Women may wish to discuss their personal and family history of breast and ovarian cancer with their physician in order to determine whether any further genetic assessment is warranted."Well, with Myriad in your office saying, "Doc, you can do this test. And SHOULD do this test" It is going to be hard not too. Especially with ACOG now saying that... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2349210 Tue, 14 Apr 2009 12:07:00 +0100 2349210 http://www.medworm.com/index.php?rid=2349212&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F04%2Fweek-away.html It really is amazing how a week away from things can help bring clarity to what is important in personalized medicine. So often I find myself getting wrapped up in what the press has botched or what PR firms have planted into "news"papers only to be further convinced that the press is dying a slow death relying on these PR types to fill empty space on the pages of their prints.....So what is important to personalized medicine and its future? I have come up with a short list. Including a question to spark your thoughts.... For those business types who read this blog.....maybe you have been thinking about a startup....here's your chance.1) Patient Centered Tools that matter.Everyone ooooowed and awwwwed at these at home spit kits as a means to gain insight into one's innards......but that is... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2349212 Mon, 13 Apr 2009 11:59:00 +0100 2349212 http://www.medworm.com/index.php?rid=2349271&cid=t_112333_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FKh3crT2YFwY%2F In recent years, more and more genetic tests and therapies have become available for patients, physicians and the interested individual. But how does one know which tests to take or are appropriate for one’s condition? And what do we do after we have the test results on our hands? Can our physician help us? Image: Newscom This March, the Genomic Medicine Institute was launched at El Camino Hospital in Monterey, California in response to the emerging opportunities and challenges that the genomic era has introduced. El Camino partnered with DNA Direct to become the first community hospital to integrate genomic medical services into its routine healthcare and provide El Camino physicians and their patients with access to leading edge genomic-based technologies. I had the pleasure of talking... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2349271 Mon, 13 Apr 2009 03:40:00 +0100 2349271 http://www.medworm.com/index.php?rid=2323361&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F04%2Ffamily-history-beats-fancy-genetic-test.html I was talking to the president elect of the ACMG the other day about something that could be pretty useful. I told him that even though we disagree about the role of DTC, I laud his efforts towards education.Our teaching point should be plain and simple. The family history is the best addition to the geneticist's history and physical. It separates them from other specialities. It is a help towards clinical judgement and use of testing. This is precisely the thing that will keep geneticists from being replaced by eager self-testers and Online "web apps" to teach patients about their 6 billion base pair report.In genetics we all know of benign variants in genes and hell, even chromosomes. Changes which in the grand scheme of things may never make a difference......that's because clinical alw... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2323361 Mon, 06 Apr 2009 11:35:00 +0100 2323361 http://www.medworm.com/index.php?rid=2323370&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fanother-bs-pr-move-congrats-public.html Ok,To Quote Diane Sawyer "Is there any way that they could just report the diseases you can prevent?"That was on Good Morning America today. I swear 23andME's PR firm has a plant in ABC.So let me explain the clinical scenario. A woman walks into the OB's office carrying 30 pages of information on 90 different diseases. The super swamped OB has 15 minutes for the patient. In that time they need to go over sexual history, health history, anticipatory guidance regarding possible pregnancy, maybe perform a pap smear.....and suddenly, the OB gets ambushed with a 30 page hand out......The Patient "Umm I was wondering, if I have a 1.37 Odds Ratio of having a heart attack, could I prevent my baby from having this?"That is the story with 23andMe's new push for samples to sell to third parties......... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2323370 Tue, 31 Mar 2009 14:01:00 +0100 2323370 http://www.medworm.com/index.php?rid=2323373&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fpersonal-health-record-vital-to.html I am a huge proponent of Personal Health Records. What is a PHR? Let me first tell you what a PHR is not.A PHR is Not1. An electronic medical record2. An always secure way to store your health information3. Always compatible with other software.I admitted a woman the other day to the hospital. She wasn't a patient of ours at Helix Health, instead she was a patient of a group who we were covering. In the ED she handed me 7 pages of (typed in Times New Roman as a Word .doc), her Health Records. It didn't have lab values nor did it have all the exact results of the studies which she had. Instead this was HER record of everything that had happened to HER medically. It was written through HER interpretation, misspellings and all. I wondered how long it took her to compile this information. I im... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2323373 Mon, 30 Mar 2009 12:13:00 +0100 2323373 http://www.medworm.com/index.php?rid=2295305&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fi-am-sick-of-bullht-navi-has-lab-and.html Ok, so today is one of those little rant days. I am pretty sick and tired of companies, politicians and bankers......It just plain stinks that our economy hit the skids. But we did a lot of this to ourselves. How?Some say Greed.Others say lack of regulations.I say, we believed in Bull$h!t........Everyone was selling it...... That is what killed this economy.Think about it, our intuitive BS meters were dropped a long time ago. Million dollar homes in rural America???? Sure, why not? Everywhere else prices are going up....Only make 50k a year? That's ok, your house is worth that million.......We'll take that risk.The same thing was true with Biotech and this new abomination of DTC.......Have a technology that has no true clinical application, nor proven utility for informing people of risk??... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2295305 Thu, 19 Mar 2009 11:48:00 +0100 2295305 http://www.medworm.com/index.php?rid=2267514&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fnavis-new-job.html In case you missed my recent posts about Navigenics and 23andME, let me recap.1. They lost their CEO. Who was in essence an executive in residence for one of the venture firms funding Navi. I.E. Kleiner was running Navigenics to begin with.....2. I predicted that by the summer these companies.....Navi and 23andME would show whether they were going clinical or way of the novelty test....Surprisingly 23andME continues to thumb its nose at academics, by launching research without having its own Institutional Review Board.3. With 23andME now doing BRCA testing, while Sacramento SLEEPS, or is underfunded.....it is clear their intention is to go clinical and clinical research without taking any ethical or professional responsibility....4. It is now clear Navigenics will go clinical, looking to r... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2267514 Sun, 15 Mar 2009 12:22:00 +0100 2267514 http://www.medworm.com/index.php?rid=2260084&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2F23andme-to-do-research-one-question.html Did you guys catch that Sergey Brin is funding some research into Parkinsons Disease? It turns out that you can have all the money in the world and still get disease.......Or at least pre-disease..."The study, will be conducted by 23andMe, a company co-founded and co-managed by Mr. Brin’s wife, Anne Wojcicki. The company offers a personal genomics service, in which it scans the DNA submitted by its customers and provides information on their health risks, ancestry and other traits."There are a couple of issues I need clarified here.1. Is there an IRB involved to govern 23andME in this "research"? 23andMe will establish a research advisory committee to guide such collaborations. 23andMe may grant researchers associated with partner organizations access to our database of genetic and other... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2260084 Thu, 12 Mar 2009 14:43:00 +0100 2260084 http://www.medworm.com/index.php?rid=2260086&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Feurope-plans-on-regulating-dtcus-is.html Interestingly in a news article in the European Journal of Human Genetics, it seems to me that even the people arguing against regulations are doing so in a very "Not so convincing way"Those that are arguing for regulations are making a clear case. My guess is that they have been the ones arguing for about 30 years......so they have a little experience with ELSI issues in genetics....The end of the news article makes it clear that at minimum, there will be a place for genetics professionals in the governmental regulatory organizations to develop such guidance. This seems to me to be a reasonable approach.I have argued in the past that these companies should be getting regulated. And they should. In fact, there are already laws on the books to provide such regulations. You can call them old... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2260086 Thu, 12 Mar 2009 12:25:00 +0100 2260086 http://www.medworm.com/index.php?rid=2260090&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fwhy-is-healthcare-so-expensive.html If you want to have any insight into how complex and horrible the medical system is, then you need to set aside 24 hours and read this.If you pay someone to create these sorts of manuals, you should be paying someone to read them.....otherwise, who will follow the rules?The short answer. No One.That is why President Obama is auditing doctors at an alarmingly higher rate than has occurred in the past. No one is following the rules......even the insurers that make the rules.How in the world do we expect to fix a system mired in this much red tape?Oh.....don't worry. The INTERNET will fix it........yeah right......The Sherpa says: How can the government focus on effectiveness without focusing on the effectiveness of its policies and procedures? They can't. Which is why audits are up this mont... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2260090 Tue, 10 Mar 2009 18:52:00 +0100 2260090 http://www.medworm.com/index.php?rid=2233846&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fsign-of-times-or-just-bad-management.html Genome Web reports yesterday that DNAPrint goes bust.Who was DNAPrint and what did they do?Who?DNAPrint Genomics, Inc. is a cutting edge company. We are concentrating our efforts in four distinct areas; Pharmacogenomics, Forensics, Genotyping, and Consumer Products. Our aim is to continue to research and develop novel products and services in each of these market areas and to be a leader in genomic-based technologies.The Company’s core patent applied for and proprietary technologies for efficiently targeting single nucleotide polymorphisms (“SNPs”) enable us to provide novel predictive genetic tests at a significant cost advantage over our competitors.What did they do?Four things really1. DNAPrint®'s genealogy product, ANCESTRYbyDNA™ 2.5, is a pan-chromosomal assay for genetic anc... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2233846 Wed, 04 Mar 2009 14:07:00 +0100 2233846 http://www.medworm.com/index.php?rid=2233847&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fover-200-studies-what-is-bs-what-is.html With the advance of genome wide associations we need to collate them and evaluate them. A research physician associate of mine told me that on average 9 out of 10 association studies will eventually be proven incorrect. His research, not mine.That is a pretty huge number. But it is with that mindset in which I review GWAS. What do I look for? How do I evaluate them? There have been some good articles recently in JAMA which illustrate some of the key concepts.In genetic studies, one potential cause of spurious associations is differences between cases and controls in ethnicity, a situation termed population stratification. Was measurement of the genetic variants unbiased and accurate? Methods for determining DNA sequence variation are not perfect and may have some measurement error. Do the ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2233847 Tue, 03 Mar 2009 13:42:00 +0100 2233847 http://www.medworm.com/index.php?rid=2223036&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F02%2Fbeginning-of-end.html Mari Baker is leaving Navigenics......I am fairly certain of that....Unless you can be the CEO of 2 companies at once......."PlayFirst Expands Management Team to Address Growing Consumer Entertainment Market; Recruits Senior Industry Veterans in CEO, CFO Positions SAN FRANCISCO, Feb. 26 /PRNewswire/ -- PlayFirst, Inc., the award-winning entertainment company, today announced that Mari Baker, a consumer software and internet industry veteran, has been named its Chief Executive Officer. The company also announced today that Jim Wandrey has joined as Chief Financial Officer. PlayFirst, one of the leaders in casual entertainment, recruited the new leadership to address the growing market opportunity in interactive consumer entertainment."Or maybe they're restructuring. Or maybe a major VC is p... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2223036 Thu, 26 Feb 2009 19:43:00 +0100 2223036 http://www.medworm.com/index.php?rid=2216997&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F02%2Fbeginning-of-end.html Mari Baker is leaving Navigenics......I am fairly certain that....Unless you can be the CEO of 2 companies at once......."PlayFirst Expands Management Team to Address Growing Consumer Entertainment Market; Recruits Senior Industry Veterans in CEO, CFO PositionsSAN FRANCISCO, Feb. 26 /PRNewswire/ -- PlayFirst, Inc., the award-winning entertainment company, today announced that Mari Baker, a consumer software and internet industry veteran, has been named its Chief Executive Officer. The company also announced today that Jim Wandrey has joined as Chief Financial Officer. PlayFirst, one of the leaders in casual entertainment, recruited the new leadership to address the growing market opportunity in interactive consumer entertainment."Or maybe they're restructuring. Or maybe a major VC is pulli... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2216997 Thu, 26 Feb 2009 19:43:00 +0100 2216997 http://www.medworm.com/index.php?rid=2216998&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F02%2Fsherpa-is-right-dnadirect-moves-into.html As if my conjectures weren't enough, it seems to me that the DTC genomics space is proving my theories to be correct. It turns out that the real value is in providing analysis of the genetic material, NOT testing itself. When you start giving interpretation, you begin to incur regulations that were not applied to those labs who are doing the tests.It turns out, people don't like buying genetic tests online. In fact, one of the oldest DTC genetic testing company is NOW turning into a genetic counseling resource service.According to the DNADirect site:DNA Direct can help your physician practice or medical center meet this challenge by providing access to genetic expertise that can be seamlessly integrated into patient care.It turns out that this was one of the things we did at Helix Health a... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2216998 Wed, 25 Feb 2009 18:49:00 +0100 2216998 http://www.medworm.com/index.php?rid=2206837&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F02%2F23andme-genetic-counseling-isnt.html Thanks to an amazing string of commentary on my blog, I think I get it.Most of the 23andME users don't understand clinically what they are getting. It turns out, what they are getting is in essence unsupervised genetic counseling.Vincent a commenter notes from my previous set of comments:"In their actual report to customers, though, their language is much more sane. E.g.Carrier for the 6174delT BRCA2 mutation. Lifetime risk of breast cancer for women is increased from 13% to 85% and risk of ovarian cancer is increased from less than 2% to 23%. May significantly increase risk of prostate cancer in men. There is also an increased risk for breast cancer in men.That an accurate (as best as I can tell) statement of fact, and one that does not cross the line into the area of clinical diagnosis."... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2206837 Mon, 23 Feb 2009 15:48:00 +0100 2206837 http://www.medworm.com/index.php?rid=2149746&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F01%2Frazzle-dazzle-em.html I was reading Daniel's Blog and this person's comments caught my eye... "The marketplace for genetic testing is basically an uneducated one (with the exception of people who are really excited about it)."I think she is right. To do the education to get someone to use this test will ultimately make them not use this test...because once you can understand the implications, you could understand that these tests are of limited value.......unlike Pgx testing...Caveat: I like the people at Navigenics. I think they have great scientists. BUT, I am extremely skeptical of any physician who is working for this company to promote tests which are not clinically validated.....To continue...She then goes further...."Add to that, Navigenics also wanted to offer disease related testing (I'm leaving the qu... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2149746 Sat, 31 Jan 2009 12:19:00 +0100 2149746 http://www.medworm.com/index.php?rid=2110825&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F01%2Fpersonalized-genomics-critical-review.html I just want to point everyone's attention to a great meeting that happened in December. I wish I could have been there. I still maintain to this day that Personalized Medicine does not equal personalized genomics. In fact, in an interview I gave to Berci Mesko at Scienceroll, I talk about the differences between personalized medicine and personalized genetics. The scans are a tool we can use (maybe) for personalized medicine, just like all the other tools we have....This meeting which was held by the CDC and NIH was for the sole purpose of reviewing Personal Genomics.Purpose:This 2-day workshop, cosponsored by CDC and NIH, explored the type of scientific foundation that is crucially needed to make the promise of personal genomics a reality. The workshop participants examined how the integr... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2110825 Fri, 16 Jan 2009 13:37:00 +0100 2110825 http://www.medworm.com/index.php?rid=2074964&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F01%2Fits-coming-fda-considering-changing.html Did you hear? The Food and Drug Administration is in discussions with BMS and Sanofi Aventis to change the label in Plavix.....But here's the rub...What do they say? The studies definitely show patients are at risk. The question is how many???With Plavix being the second most prescribed drug in the nation this has left cardiologists jaws agape!"life just got very confused and much more complex" for cardiologists and patients, said James Calvin, director of cardiology at Rush University Medical Center in Chicago. He added, "We have to start to become very, very aware of how big an issue this is."This from an article in CNN/Money today!"Once you know the answer what do you do?" said Douglas Weaver, head of the department of cardiology at Henry Ford Hospital in Detroit and president of the Am... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2074964 Fri, 02 Jan 2009 09:00:00 +0100 2074964 http://www.medworm.com/index.php?rid=2074966&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F12%2Fprediction-from-reader.html Ok, another sleepy day up in New Haven.......But not with me. I received some comments from my last post which were interesting and I want to share one with all of you....This year we will see some new genetic tests being developed and improved. We will also see 23andMe start to follow the business plan of DNA Direct.This is a pretty insightful comment. Will we see 23andMe go for the DNADirect business? If the data behind genome scans is currently weak, how can 23andMe monetize their model? Yes, we all know about the database thing....Isn't that what landed Celera in a heap of pain?Seriously, will 23andMe begin offering single gene tests? I am always confused by this one. DNADirect states that they do not mark up their tests, but how do they make money? I am curious about this one too. But... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2074966 Tue, 30 Dec 2008 15:31:00 +0100 2074966 http://www.medworm.com/index.php?rid=2018091&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F12%2Fgate-keepers-for-genetic-information.html A recent set of comments came to me from a Genetic Counselor. They were well thought out, but I think she may have misinterpreted me...I pray that your attitude changes before you have a practice of your own and I pray for the genetic counselors at Yale who have to work with now, knowing that you think they are unnecessary and undeserving of respect. This was said in response to my asking that if someone is billed a code 99245 that a person should be seen by a physician or at least someone who could perform a physical exam. Billing without the physical exam is more disrespectful and illegal than I was in the prior post... Unfortunately, that post was taken as if I think genetic counselors don't matter. In fact the reader further went on to feel as if I wanted to replace the whole field."Wh... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2018091 Fri, 05 Dec 2008 10:48:00 +0100 2018091 http://www.medworm.com/index.php?rid=2006368&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F12%2F4-days-and-crazy-ht-happens.html Did you ever notice how everyone drops out at Thanksgiving, leading to a 4 day weekend? I did, and I dropped out......a little. But I did keep my ear to the ground and found some interesting news I want to share with my wonderful readers!1. JAMA publishes an article which says, poor glucose control in diabetics puts you at risk for heart disease.....but if you have a 9p21 genetic polymorphism it REALLY puts you at risk....Ok, so what does that mean? Well, they studied patients who had cardiac catheterizations. In those who had 50% or greater blockage of a vessel, you were 4 times more likely to have poor diabetic control AND 9p21 polymorphisms. If you just had poorly controlled diabetes......2 times more likely. What is the clinical take away? Is it ok to have poorly controlled diabetes if... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2006368 Mon, 01 Dec 2008 11:27:00 +0100 2006368 http://www.medworm.com/index.php?rid=1991525&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F11%2Fmygeneticistcom-debuts.html I love the web. I have a twitter that is only shared by some good friends....but it never fails that I have people who are interested in what Helix Health is up to "lurking" my twitters......(I always wondered, are the people who use twitter called Twitterers or just Twits?)This is the case with a company. I was informed today that someone at http://www.mygeneticist.com/ was now following me.. So I went to their site... It was a face page that I have up here....I began to wonder who was following me on twitter, so I dug deeper....It turns out that MyGeneticist.com was founded by PhD Geneticists, not MD Geneticists and is run by the a company called discoverme technologies. What is MyGeneticist and who are DiscoverMe Technologies???From their site "At the heart of DiscoverMe Technologies is... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1991525 Wed, 26 Nov 2008 15:00:00 +0100 1991525 http://www.medworm.com/index.php?rid=1975624&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F11%2Fgenes-provide-minimal-benefit-seriously.html Conclusions A genotype score based on 18 risk alleles predicted new cases of diabetes in the community but provided only a slightly better prediction of risk than knowledge of common risk factors alone. The C-statistic was 0.900 versus 0.901......some on....can we even call that better? The nearer the C statistic to 1, the better the predictive value of the test...so can we really say it is worth it???Paper Two: Conclusions As compared with clinical risk factors alone, common genetic variants associated with the risk of diabetes had a small effect on the ability to predict the future development of type 2 diabetes. The value of genetic factors increased with an increasing duration of follow-up. In this study they use the area under the ROC, where the change is 0.74 to 0.75....again lacklus... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1975624 Thu, 20 Nov 2008 18:17:00 +0100 1975624 http://www.medworm.com/index.php?rid=1969286&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F11%2Fnot-intended-to-diagnose-or-treat.html Andrew Yates at ThinkGene comments on something that I have not been able to effectively explain. We trust health assets like “medical advice” to exist. That is, we trust that public medical information describes reality such that it may be applied to measurably improve health. This is a challenge because medical advice, especially preventative medical advice like genomics, is a trust asset: an abstract idea with value applied to the indefinite future. This is a very precise explanation. We pay for medical advice.......which may include diagnosis or treatment.......We trust trained health professionals to give that advice. We trust that they are capable of giving that advice......Why?Well, we have a licensing system in this country that helps us assure that quality. In addition to that... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1969286 Tue, 18 Nov 2008 14:45:00 +0100 1969286 http://www.medworm.com/index.php?rid=1969287&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F11%2Ffrancis-agrees-with-kid.html First, Hat Tip to Mr Weber, a longtime reader of my blog. Thanks to him for bringing this to my attention.Do you remember how I said that genetic counselors lack the clinical training to integrate services such as pharmacogenomics and cardiogenetics?Nearly got my disinvited from NSGC's Christmas PartyWell, I also said that the slack could be filled by Physician's Assistants and Nurse Practitioners. Which probably only fired up the NSGC more.....It turns out someone......Francis Collins agrees with me.In the spring (Yes I missed this) NHGRI hosted “Physician Assistant Competencies for Genomic Medicine: Where We Are Today and How to Prepare for the Future.” Collins and the other speakers noted the emphasis in PA training on patient education and taking family histories and PAs' ability t... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1969287 Mon, 17 Nov 2008 12:17:00 +0100 1969287 http://www.medworm.com/index.php?rid=1961189&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F11%2Fwhen-family-history-falls-short-v1-and.html Andrew Yates at ThinkGene asks a very valid question.....When does family history fall short? I outlined it in my last post but I figure now might be a good time to review one of the instances when family history falls short.....But first I want to clarify. When I say family history, I mean at least a 3 generation examination performed by a trained healthcare professional.......not a meeting over Thanksgiving Dinner.....Those four scenarios I mention include1. Rare chromosomal anomalies that occur in less that 1% of the population2. Rare monogenic disease3. Congenital Anomalies4. Severe TraumaToday let's focus on Rare Monogenic Disease. Why? In the Wall Street Journal today, there is an article about a man who is stricken with EOAD.....Early Onset Alzheimer's Disease.....From the article"N... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1961189 Fri, 14 Nov 2008 14:05:00 +0100 1961189 http://www.medworm.com/index.php?rid=1921189&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F10%2Ftake-that-atta-boy-back-time-to-use.html I would like to take the Atta Boy back.Huh? Yes, the one I gave 23andMe. Yes I commended them for destroying a DNA sample and confirming that they are only testing your DNA, one time and then destroying the whole sample.Why might I take that Atta Boy back?Because they are acting like business people again.........In a not so certainly socially responsible move, which was alluded to by the Girl with the BS from Yale Anne. Wojcicki: One of the areas we've talked a lot about is pharmacogenomics--being able to say, should you take ibuprofen? Or if you have a new baby and you're flying to Europe, should that child take Benadryl, or will it make them hyper?Daniel over at Genetic Future points out another well designed marketing ploy by 23andMe.....Why? Well, everyone in marketing knows it is WAY... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1921189 Thu, 30 Oct 2008 15:13:00 +0100 1921189 http://www.medworm.com/index.php?rid=1892141&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F10%2F23andme-says-steal-your-babys-genomeits.html One of the big things 23andMe has emphasized in the past is that their data is not to be used to make medical decisions....."23andMe's services are not medical ... they are educational," argues 23andMe spokesman Paul Kranhold. This from Forbes when the regulatory heat was on in the spring.Then their consent notes that their kit is not for medical use:Furthermore, 23andMe's service is not a test or kit designed to diagnose disease or medical conditions, and it is not intended to be medical adviceThen their blog lists their terms of service which includes.......23andMe does not recommend or endorse any specific course of action, resources, tests, physicians, drugs, biologics, medical devices or other products, ...So naturally when I read the interview of Linda and Anne with Emily Singer at T... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1892141 Mon, 20 Oct 2008 16:48:00 +0100 1892141 http://www.medworm.com/index.php?rid=1739469&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F08%2Fmarkets-being-analyzed.html This report was designed by an Investment Analyst....my guess....with a price point for testing at 2500 USD....I think we know who this was.....It seems to me that the market is finally being analyzed...... Which is a good thing. My problem is with question 26....Since when does Income Level serve as an indication or serve as criteria to perform a genetic test? ACHHH! The results of this survey would make a great blog post......I asked those guys for the results....maybe they will let me blog about it! (Source: Gene Sherpas: Personalized Medicine and You) Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1739469 Thu, 28 Aug 2008 01:41:00 +0100 1739469 http://www.medworm.com/index.php?rid=1720543&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F08%2Fcalifornia-ok-with-snp-chip-testing.html In the New York Times today it appears, California has been satisfied by 2 of the big 3 DTC SNP Chip testing companies. From the article: Two closely watched companies that offer consumers information about their genes have received licenses that will allow them to continue to do business in California, a state official said Tuesday. The licenses, granted to Navigenics and 23andMe, should help defuse a controversy that began in June when the California Department of Public Health sent “cease and desist” letters to the two companies and 11 others that offer genetic testing directly to consumers. I don't think Andrew spoke to the geneticists I work with. I don't think a state license will ever defuse this powder-keg. But I do congratulate both companies on working within the state regula... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1720543 Wed, 20 Aug 2008 15:11:00 +0100 1720543 http://www.medworm.com/index.php?rid=1671561&cid=t_112333_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2008%2F07%2F31%2Fdna-direct-is-confirmed-to-be-in-compliance-with-state-law%2F It’s official: DNA Direct has received a formal letter from the California Department of Public Health (CDPH) stating that we are operating in compliance with state laboratory law. Specifically, the letter states that DNA Direct’s tests are performed only with a physician order and are conducted at licensed laboratories, and that DNA Direct gives validated [...] (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=1671561 Thu, 31 Jul 2008 21:49:04 +0100 1671561 http://www.medworm.com/index.php?rid=1616418&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F07%2Fnew-gene-in-atrial-fibrillation.html Did anyone see the New England Journal of Medicine? They published an article on a new gene involved in atrial fibrillation. Don't know what A-Fib is? You have 4 Chambers in your heart.....the top 2 are called atria.....Atrial fibrillation can put you at risk for heart failure, heart attack and stroke.The last of these is the most ominous. This is one of the major reasons people take Warfarin. Which BTW, can have up to 45% of your metabolism tested for by genetic analysis of CYP 2C9 and VKORC1....And recent studies support its use.You can get your testing through DNADirect......even if your physician says there is no reason to test for it(They are dead wrong).....Some physician with the company will order it.....The question is, "Whose responsibility is it to tell results to the doctor who... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1616418 Fri, 11 Jul 2008 00:53:00 +0100 1616418 http://www.medworm.com/index.php?rid=1596812&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F07%2Fyou-know-its-bad.html You know you are in for a grilling when the SACGHS says......"While we laud you for coming to participate in the conversation, part of that participation means that you may not like what you hear(More or less quoted from the webcast)"Then in an "Interesting" Move.......They ask "Would you be willing to sacrifice your bottom line to offer these services at say 100 USD?"Wha???? This is such a crazy question.....This Assumes that the data they are presenting is valid, actionable and worthwhile....... All of which.....are debatable...AND that the public would want such services....What am I talking about? I am talking about the opening of the 30 minute interrogation that was the end of the SACGHS meetingThey even asked the question "Do you have an IRB for all this 'research?'"The response........ Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1596812 Tue, 08 Jul 2008 19:07:00 +0100 1596812 http://www.medworm.com/index.php?rid=1551851&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F06%2Fabc-misinformation-and-government.html I have to comment on something. ABC news tonight covered the whole drama in California.....But they really didn't. In fact they gave 20 seconds (approx) to the fact that the government was finally regulating this industry....they did even manage to squeeze in that the FTC is investigating deceptive advertising. What the piece really was.......A human interest story....much like the excellent work done by Amy Harmon at the NYT....Which reminds me....did anyone see Kathy Hudson throw the Federal Gov't under the bus???? She now really has put them on notice and put their backs slammed against the wall. So the ABC report? 52 year old woman caring for her mother with Alzheimers. The pitch "I am taking an at home test to find out what my risk for Alzhemier's" Whoa!!!!! No one....I mean no one... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1551851 Thu, 26 Jun 2008 23:59:00 +0100 1551851 http://www.medworm.com/index.php?rid=1543906&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F06%2Fburrill-reportdecoded.html Consumers are worried about developing genetic based diseases, but remain reluctant to use genetic tests that will provide early warning signs.That is the lead statement in the executive summary from the Burrill and Company Personalized Medicine and Wellness report issued last week. Many may ask "What's this report have to do with me?" many have even doubted the validity of the report in favor of the blogosphere......In the arena of Genomic Medicine, I would say the blogosphere is pretty one sided.....IN fact, that is why the Sherpa is popular. Until I started blogging, this place was pretty much a mutual admiration society. Further proven by the backlash I received when I said that governmental regulation was coming and then came.So let's go back to the poll.....Second LineCompanies need ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1543906 Tue, 24 Jun 2008 09:00:00 +0100 1543906 http://www.medworm.com/index.php?rid=1538277&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F06%2Flets-just-say.html I, Steven Murphy MD, am for Genomic Medicine, I am for patient empowerment, I am for the revolution known as patient centered genomic healthcare. I did not delight in the governmental actions, I did not enjoy watching the smack down. I was happy with the fact that my estimates were right. I was happy that the Sherpa "called this one". I was also happy that the public may now begin to start trusting these tests. But don't ever say I was happy about governmental regulations.......I am not for any added regs. It just doesn't make any sense to add what is already there. Unless you are talking about enhanced protection from discrimination.I did some thinking over the weekend and even watched the Sunday Morning Shows including CBS. They put together a nice review of the changing face in West Tex... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1538277 Mon, 23 Jun 2008 11:10:00 +0100 1538277 http://www.medworm.com/index.php?rid=1526761&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F06%2Fruh-roh-shaggy.html You know. I have been racking my brain why all of these "early adopters" kicking me on this blog have such an aversion to going to see a doctor. They claim that they want information, but I ask "How many of you know your cholesterol? How about your Systolic Blood Pressure? What about your family history of Heart Disease? What the hell is wrong with all of you. Those who say....."The government can't keep us away from our knowledge or data!" I challenge you to this.Tell me you had a physical last year, tell me you know your LDL, tell me you know your family history. Then and ONLY then will I listen to your argument against regulation of knowledge. These bits of information will be much more prognostic of your health than a 1 million SNP scan.That being said, these 13 companies are not just ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1526761 Wed, 18 Jun 2008 02:25:00 +0100 1526761 http://www.medworm.com/index.php?rid=1526762&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F06%2Fkicking.html Whoah! I never thought that my blog would generate such response! I received over 100 emails today. Guess what. In a near 50/50 split they were pro or anti regulation. Some were so nasty and hate filled I began to question why I was even blogging about this. Luckily, none threatened my pets or family! They even asked me whose side I was on. I think I have been pretty clear on this one. I am on the side of safe and effective personalized medicine. That's the only side to be on. I am FOR the Genomic Medicine revolution. I am against anything that will hinder its' development. Some of these fly by night companies have been doing just that for years now!So I must sit back and look over the landscape. I knew this is where we were headed. Maybe we need a refresher course in history to understand... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1526762 Wed, 18 Jun 2008 00:09:00 +0100 1526762 http://www.medworm.com/index.php?rid=1522430&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F06%2Fstreets-of-philadelphia.html I want to point all of you to a comment on my blog. This is in regards to my post yesterday. I was accused of responding arrogantly. I don't think it is arrogance....I am just shocked and awed that some in the public think that they can do this on their own without professional help. Do you build your own home? What about fight your own court cases? Some do their own taxes...but only when it isn't complicated. Trust me, this IS COMPLICATED! Now on to the comments.well, I am a geneticist (though not a human one) so I guess that makes me not a typical customer but I can only say that my experience talking genetics with MDs has been appalling. I agree. Most physicians can make a hash of it. This does not mean that they do not understand the medical risk of those genes, just the mechanisms. I ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1522430 Mon, 16 Jun 2008 11:00:00 +0100 1522430 http://www.medworm.com/index.php?rid=1522431&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F06%2Fdo-you-hear-that-sound-mr-anderson.html In an obvious move California has taken their stance. This was the sound of inevitability. I find it funny that the same journalist hyping these tests 1 year ago is now reporting on how California has sent cease and desist letters to the genome firms. This week, the state health department sent cease-and-desist letters to 13 such firms, ordering them to immediately stop offering genetic tests to state residents.As I sat near Dietrich Stephan, Joanna Mountain of 23 and Me, Ryan Phelan and the number 2 from deCode it was evident on their faces. I knew they had received the letters (Well maybe not Ryan, she was ebullient)*. Their faces showed what I already knew to be true. Medical Genetic testing will and should fall in the realm of healthcare and practitioners. * It turns out Ryan Didn't ge... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1522431 Mon, 16 Jun 2008 05:13:00 +0100 1522431 http://www.medworm.com/index.php?rid=1518713&cid=t_112333_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2008%2F06%2F14%2Fdna-direct-in-full-compliance-with-state-and-national-regulations%2F The California State Department of Health announced on Friday, June 13, 2008 that they have sent out cease & desist letters to 13 companies that offer consumer access to genetic tests, requiring that the companies not offer genetic tests via the Internet to California residents. This is major news in the world of direct-to-consumer genetic [...] (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=1518713 Sat, 14 Jun 2008 18:53:47 +0100 1518713 http://www.medworm.com/index.php?rid=1512321&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F06%2Fsherpa-hits-san-francisco.html Imagine rounding up everyone that is influential in the Genome Sequencing world on the science side, then add a healthy set of journalists, mix in a group of Venture Capitalists and put the leaders in corporate industry at a table to answer their questions. Including, the Sherpa!!!This was a whirlwind tour, where I managed to meet with some pretty influential people in silicon valley. I introduced them to Helix Health and our plans for the future of Genomic Medicine. They introduced me to some people looking to make that happen.Also I was involved in discussion and gave a talk to the group at Beyond Genome Conference, hosted by CHI. I also was asked to advise CHI on a novel educational initiative for them. I am honored. In addition I was able to meet with a good friend of mine and begin to... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1512321 Thu, 12 Jun 2008 15:43:00 +0100 1512321 http://www.medworm.com/index.php?rid=1485017&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F06%2Fken-and-senate.html "GINA is a laudable gain, but it is only half of the regulatory reform needed. We need to turn to genetic testing itself, which, surprisingly, has escaped comprehensive federal oversight. One of the cited needs for GINA has been the explosion of genetic testing by direct-to-consumer for-profit companies. Just last month, one testing company set up a storefront in New York to hawk its wares. Many physicians and genetic counselors feel that such direct-to-consumer marketing of genomic research information is premature at best, and dangerous at worst.""In response to a recommendation from an advisory panel to the secretary of Health and Human Services, the Food and Drug Administration, the Federal Trade Commission and the Centers for Disease Control and Prevention issued a joint warning to co... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1485017 Mon, 02 Jun 2008 01:04:00 +0100 1485017 http://www.medworm.com/index.php?rid=1472689&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fgenetic-susceptibility-to-cancer.html I love the pen. It has the ability to befuddle, convince, coerce, and give false or true hope. This is the case with journal articles. I am always amazed by what is reported and what is real. You see, the Buddhists will tell you that all reality is merely false. Why? Because perception is what we view to be reality. Since reality needs to be constant, yet perception not only changes but is viewer dependant....it is not constant. Hence, there is no spoon.This is the case with a recent article published in JAMA's clinician's corner. The article entitled "Genetic Susceptibility to Cancer" did something wonderful. It took 161 meta and pooled analyses encompassing 18 cancer sites and 99 genes/344 variants (Trust me, this took some heavy lifting) and evaluated for Odds Ratios and evaluated stati... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1472689 Wed, 28 May 2008 14:10:00 +0100 1472689 http://www.medworm.com/index.php?rid=1466286&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fsorry-to-coriell-stay-of-new-jersey.html Sorry to the attendees at Coriell Yesterday. They were ready to start participating in the Delaware Personalized Medicine Project. I was scheduled to speak on the topic of "Patient Centered Genomic Medicine" Unfortunately, I was stuck on the TurnpikeDon't get in a car wreck in New Jersey. Trust me!I don't know if anyone reads Medical News Today but it is filled with great information and studies. Today, it is reporting something which is of no surprise to me. From the articleA new report on genetic testing from HHS' Agency for Healthcare Research and Quality calls for the creation of improved public health surveillance databases and health information technologies to monitor the use of gene-based tests and their impact on patient outcomes.For the government to spend on this testing, they w... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1466286 Fri, 23 May 2008 12:11:00 +0100 1466286 http://www.medworm.com/index.php?rid=1461189&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Ftiming-gina-is-law-and-future-of.html So some very important things came to pass today. All of these things will have a major impact on the future of Genomic Medicine. First and foremost....I have a delivery system for Personalized Medicine. Physician based care is the only way for this future. It may not be sexy enough for Kleiner Perkins, but we have some very strong allies now. After the best meeting I have had in my career so far I headed to a very quiet space for the webinar. The webinar is a demonstration of how powerful the webcast can be to convey and cover complex material. This is exactly what Helix Health will do, at a minimum monthly, convey complex topics and bring the thought leaders together to debate and educate. Interested in helping out? Call Helix Health.How good was the webinar? REAL GOOD. The take home mes... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1461189 Wed, 21 May 2008 21:55:00 +0100 1461189 http://www.medworm.com/index.php?rid=1458850&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fthank-to-all.html Once again, I would like to thank everyone who has surrounded me and helped me launch this new webcast service. Including the wonderful DNA Network! We are committed to doing monthly series for both public and physicians. I really am excited to have this fantastic list of speakers on board. I am absolutely convinced of the educational potential these webcasts can bring to everyone. In fact, as I actively work on building the next big thing in medical care and genomic medicine, I am creating a novel delivery system for genomic education. Sir William Osler always said to let the patient do the teaching...This is precisely the case with Jessica Queller. No one knows the difficulty of the decisions faced by BRCA carriers better than her.That being said, even with such powerful genetic risk as ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1458850 Tue, 20 May 2008 23:09:00 +0100 1458850 http://www.medworm.com/index.php?rid=1451970&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fbrca-webcast-sherpas-repost.html I vowed I would never post when family took precedence. I have to break that vow again today. I wish I didn't but there is something so vitally important that I must share with you. Why is this important? Because it might save more lives than have been previously lost. The scourge of Ovarian and Breast cancer has ravaged several populations. With very few cases of early detection in Ovarian cancer, many women present with spread of the cancer and very poor prognosis. Even more importantly, women who have ovarian cancer and BRCA mutations still are at risk for other cancers including breast cancer. Despite this I have heard comments from Oncologists like "Why do we need testing?" This is why I have pulled myself away from my grief stricken family. To fight this lack of knowledge I have dedi... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1451970 Mon, 19 May 2008 13:51:00 +0100 1451970 http://www.medworm.com/index.php?rid=1439998&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fepi-genomic-canary.html So many people talk about guniea pigs as the research subject. I think this is a disservice for the pigs. Personally I think the Shaft Canary is a much better analogy. You see, the subtle changes from the human guinea pigs may not make big headlines or get the public to listen....But, the canary in the shaft always makes big press.If you don't know what I am talking about, let me explain. One of coal miners earliest and continuous problems was carbon monoxide. It can kill fairly quickly. But way back when, there were no gas detectors.....we had a vey limited ability to identify the dangerous gas. So what did they do? They carried a surrogate into the mine...The canary was a pretty easy to read detector. If the bird died, then you should leave the mine shaft. With our ever expanding set of ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1439998 Tue, 13 May 2008 13:51:00 +0100 1439998 http://www.medworm.com/index.php?rid=1437085&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fstuck-at-ritz.html I just received my itinerary for the Beyond Genome Conference in San Francisco? What's this conference? Well, in case you missed it.... The conference is the biggest organization of stakeholders and speakers of Genomic Technologies, Genomic Medicine and Policy Wonks. There are 4 themes which the conference is organized around. 1) Applying Sustems Biology 2)RNA Interference 3) Personal Medicine 4) Targeted Gene Therapy. It is a must attend conference. I will be speaking for approximately 20 minutes on Patient Centered Genomic Care. I will be bookended by Kari Steffanson and 23andMe.... The lead off is Misha Angrist of PGP fame and GenomeBoy distinction.That's not why I am writing. I am writing to tell you that if you want a room in San Fran from the 9th to the 12th you can forget about it. ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1437085 Mon, 12 May 2008 14:43:00 +0100 1437085 http://www.medworm.com/index.php?rid=1432784&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2F276-pages-of-pure-reality.html Have you read it? Come on.....You didn't. Well, you are missing out. Back in 2004 I started watching the Secretary's Advisory Committee on Health, Genetics and Society. But even more importantly I began watching back meetings that were webcast, including the SACGT. I studied the players in the field, the advisors, the government. I began to notice trends and agendas. This is why I saw all of the regulations coming. I began emailing members, speaking with advisors, and learning how and when all of the issues would arise and then be solved. Then in 2005 I began to develop the business plan for Helix Health. The safest climb to the summit is with trained genetics professionals like the ones we have. The riskiest is D-I-Y. The SACGHS is against D-I-Y...notably this 276 page report goes into th... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1432784 Thu, 08 May 2008 19:19:00 +0100 1432784 http://www.medworm.com/index.php?rid=1423652&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Flancet-and-sherpa.html After reading an editorial from the Lancet...I think that they may be reading the Sherpa. Let me know what you think. From the Lancet "Genome Wide Open"Interpretations of the effects of human genotypes on disease are today just entering the foothills of a forbidding massif. In particular, a much richer understanding of human genetic variation is needed. However, the relentless ascent of human genomics is coinciding with growing public interest in maintaining health and participating in health-care choices. Doctors will face challenges in guiding their patients through genetic terrain strewn with difficult language and concepts, but should be optimistic that shared enthusiasm will make for surer progress.My Blog?To usher in the new paradigm of personalized medicine we will need to travel a ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1423652 Tue, 06 May 2008 15:34:00 +0100 1423652 http://www.medworm.com/index.php?rid=1423653&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fosteoporosis-and-gene-tests.html Osteoporosis, or porous bone, is a disease characterized by low bone mass and structural deterioration of bone tissue, leading to bone fragility and an increased susceptibility to fractures, especially of the hip, spine and wrist, although any bone can be affected.In simpler terms, osteoporosis is a condition in which the bones become weak and can break from a minor fall or, in serious cases, from a simple action such as a sneeze.About 85-90% of adult bone mass is acquired by age 18 in girls and 20 in boys. Building strong bones during childhood and adolescence can help to preventosteoporosis later in life.In the U.S. today, 10 million individuals are estimated to already have the disease and almost 34 million more are estimated to have low bone mass, placing them at increased risk for ost... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1423653 Tue, 06 May 2008 13:16:00 +0100 1423653 http://www.medworm.com/index.php?rid=1413591&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fwhy-i-love-genome-technology-online.html I hope everyone who reads this will subscribe to Genome Technology Online (This is not a paid advertisement this is my opinion).Why? If you are asking this, it is likely because you have never received the email newsletter. I am always impressed by their ability to capture the essence of what is going on in the Genome World Daily. They have excellent reports for purchase as well. But frankly, just getting the email everyday makes my heart twitter (I can't get sued for using that word can I?)Today they poke fun at Corporate Genomics and make mention of 2 very well written articles. One over at the Wall Street Journal. Yesterday I took Marilyn Chase to task. Marilyn, please don't get mad. Just give me a call next time you are writing about genome studies. And another story at Portfolio. The ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1413591 Thu, 01 May 2008 19:07:00 +0100 1413591 http://www.medworm.com/index.php?rid=1409898&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fnew-brca-and-subsegments-of-segment.html First and Foremost,To all women who have hereditary patterns of Breast Cancer, but have a negative BRCA work up....there is new information which deCode has released in Nature Genetics. I was very excited about this and look forward to some significant replications.From a recent MarketWatch report Common variants previously discovered by deCODE on chromosomes 2q35 and 16q12 are together involved in an estimated 25% of ER+ breast cancers. The analysis in today's paper also reveals that a fourth known set of variants, located on chromosome 10q26 and accounting for approximately 16% of breast cancers, appear to confer risk exclusively of ER+ tumors. deCODE is applying these variants as the basis for a DNA-based reference laboratory risk-assessment test the company plans to launch in the comin... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1409898 Wed, 30 Apr 2008 17:45:00 +0100 1409898 http://www.medworm.com/index.php?rid=1404192&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Foprah-oprah-oprah.html In a gut wrenching episode of Oprah the other day Randy Pausch spoke about pancreatic cancer. It is a scary disease as almost everyone dies from this cancer AND it is so difficult to detect. He is correct, we know so little about pancreatic cancer. We know so little about its pathoetiology(Cause of). We are learning a little about pancreatic cancer genetics. But what scares the hell out of me is when a well respected pulmonologist and critical care specialist comes up to me today and says "My wife's father had pancreatic cancer. She's scared to death about getting it. She saw on Oprah a genetic test and something called 23andMe. Can you help me get these tests?"Woah......Big fella!!!! I spent 30 minutes going over familial pancreatic cancer, doing a quick family history and coming up with ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1404192 Mon, 28 Apr 2008 14:06:00 +0100 1404192 http://www.medworm.com/index.php?rid=1400744&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fhappy-dna-day.html Lots of great posts on this DNA Day. First, I would like to tell Misha at GenomeBoy....Doubting Thomas was eventually one of the greatest supporters.... This is in response to my post yesterday. I think he might have called me Sherpa Buzzkill if he wasn't my friend.I love that guy....seriously. Here's a man who has the paper and is a hell of a writer. Now he throws caution to the wind and signs up for the PGP. You gotta admire the courage. Pre-GINA mind you! But after the clarification of my exaggeration of the PGP informed consent profile, I thought it would be good to clarify the policy of the Delaware Valley Personalized Medicine Project. For full disclosure, I sit on the ICOB where we will meet and determine whether a SNP is medically actionable. The first meeting is in June.The view f... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1400744 Fri, 25 Apr 2008 20:24:00 +0100 1400744 http://www.medworm.com/index.php?rid=1397722&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Ftimely-release-and-unanimous-vote.html First and foremost, everyone is jumping for joy since the Genetics Information and NonDiscrimination Act passed unanimously today. But, I will not rest until President Bush takes that lovely little pen and signs this into law. I hate to be called a cynic. I am a realist....But President Bush Will sign this into law. Until that, it is just a passed bill. But it is a start.Second, the American College of Medical Geneticists has put out a statement regarding genetic tetsing and patient care. Hsien, points this out over at Eye on DNA. She does a great job of highlighting the issues. Which, once again brings me to the point that diagnosing pre-disease is just as much medicine as diagnosing full on disease.The notable item...minimum requirements for any genetic testing protocol.”1. A knowledge... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1397722 Fri, 25 Apr 2008 01:49:00 +0100 1397722 http://www.medworm.com/index.php?rid=1392574&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fgina-will-pass-thanks-gto.html I was eating lunch today at the Lotos Club with a good friend and mentor from SF today. This gentleman sits on corporate boards and is a tremendous advisor. Do you know what he said to me? Mind you, he always seems to have an answer and the experience to back it up. Today he said "I don't know" That's right, he said those 3 words. I was blown away. He and I agreed that the only reason was simply because.....No One Knows. I liken our venture into genomic medicine much like the microsoft and internet ages. No one knew...they were making up the rules as they went along.Today, it is the same. Try to play with fire? You get burned. Try to find money for the perfect model and you get beat by someone rushing to market with something less than perfect....who then ends up buying a competitor. Jeez,... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1392574 Wed, 23 Apr 2008 00:58:00 +0100 1392574 http://www.medworm.com/index.php?rid=1382613&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fcouldve-used-sherpa.html So, I am glad that I have been posting on this subject for quite some time now. It seems we all have been blogging about it. Today, Blaine points out an article at Forbes, which is further proof that someone is reading the Sherpa. Matt and Bob, sorry about slamming you before....I just needed to know where your loyalties stood. I did wonder about your journalistic neutrality. But the article you write today is neutral and shows that maybe you had read about my concerns. Thank you for putting this out there!I hope you see the power you have to hype and over-sell. I am glad that you co-authored this piece. So let's take a looksie at what is going on...From the articleOver the last six months, New York State's Department of Health has sent letters raising the specter of fines and jail time to... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1382613 Fri, 18 Apr 2008 16:33:00 +0100 1382613 http://www.medworm.com/index.php?rid=1378045&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Ftoo-good-to-miss.html Ok....so I have been reading Hsien's discussions about DTC testing good or evil?This spirited debate is very important. Everyone has concerns about regulations. It is the reason why 23andMe jumped the non-clia certified lab ship (And probably Why Andrew's results were delayed) But it is also why LabCorp has now locked out all other corporate genomic companies for now....This debate is going to boil down simply to this...I posted yesterday and maintain this position"Predisposition is Pre-Disease". This is the case with BRCA testing, it is the case with some robust SNPs. The ICD10 codes will catch up with this....If it is not the case (i.e. for entertainment purposes only, NO HEALTH IMPLICATIONS) then they don't need medical regulation.So I ask, are the SNPs which are being tested for and re... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1378045 Thu, 17 Apr 2008 00:34:00 +0100 1378045 http://www.medworm.com/index.php?rid=1373796&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fgenetic-over-regulation-simple-answer.html Why all the worry over regulations?I was washing the dishes this morning when it finally hit me. With all of this concern coming from Washington D.C. and all the entrepreneurs (like myself) pushing something to market for "brand recognition" i.e. the Mayo or Coca Cola....face it....there is a Branding Element. Well, while we are now moving through MBA or MD 101 what hit was the answer....You may be asking yourself "What is the question?" But I am here to tell you that the question doesn't matter as much as the answer does. But if you must know....the question is "What is disease?" We have all these people talking about the wellness industry, but we have to be serious with ourselves. There are a whole lot of well people walking around with LDL's that are over 160 (BTW that is pretty high). ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1373796 Tue, 15 Apr 2008 12:34:00 +0100 1373796 http://www.medworm.com/index.php?rid=1370861&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fnice-quote-tom.html I wrote several months ago about Tom Morgan and bogus MI testing,I haven't talked about him in a while. But I remember when I was a medical student rotating in genetics at Yale. Tom was literally running around talking about how great SNPs were and how they hold the potential to help define heart disease risk. He was so animated that I quickly jumped on board as a resident. I pulled up Newsweek and guess what....Tom the super excited about SNPs and Genomic Medicine DoctorFrom Newsweek ....But we already know where Newsweek stands on this.Dr. Thomas Morgan, of the Washington University School of Medicine in St. Louis, worries that the business is getting ahead of the science. While researchers have clearly identified a chromosomal region linked to heart attack, for example, no single gene�... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1370861 Mon, 14 Apr 2008 16:47:00 +0100 1370861 http://www.medworm.com/index.php?rid=1369152&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fupcoming-journals.html It is important for all of us to contribute to the literature and assure the success of new and upcoming journals. I want to point you in the direction of 2 of these journals published by Future Medicine in London.I mention this because I just finished my manuscript for The Journal entitled Personalized Medicine. This is an excellent journal with a tremendous potential. I recently published here and intend to send a significant amount of my work its way. But what is most important about these journals, Pharmacogenomics and Personalized Medicine, is that they are giving an opportunity for younger scientists, physicians and stake holders a voice. This is important especially because as we interview with reporters, there is no guarantees that it will end up in their article. BTW Anna, I loved... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1369152 Sun, 13 Apr 2008 11:56:00 +0100 1369152 http://www.medworm.com/index.php?rid=1366876&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fpaduan-learners-and-francis.html What I always find amazing is the enthusiasm with which medical students learn genetics. My colleague came back from some of our house visits and I had some time to teach. It is as if they were never taught genetics to begin with. I just finished up an hour long lecture with the 3rd year medical students of New York Medical College. I often hear so many..."Oh Yeahs" or "Oh....I get it" answers....That is what motivates me. After the hour long lecture....I often the tell them that they now know more genetics than their attendings (Older Physicians). This often makes them feel very empowered. I walk these students through the history of modern medical genetics and tell them about the lack of providers in the field. Often this is accompanied with several expletives about how Mendel did us wro... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1366876 Fri, 11 Apr 2008 18:24:00 +0100 1366876 http://www.medworm.com/index.php?rid=1363845&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fback-to-basics.html I used to play football and had a coach who said "If you block and tackle better than anyone, then you will win championships"I thought he was crazy. I thought you had to have super talent to win. But year after year it is clear in the NFL that teams who block and tackle better...win. You know this to be true in all sports.So here at the Gene Sherpa, I am going back to the basics. I have been getting away from that and being a little preachy and in fact turning into a tabloid...While it does generate alot of blog hits.....Searches for Navigenics has sent my hit rate rocketing on FeedBurner....I think we need to report on how we are doing in our progression to Genomic Medicine.So when I open this month's edition of Internal Medicine News "The Leading Independant Newspaper for the Internist-... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1363845 Thu, 10 Apr 2008 13:22:00 +0100 1363845 http://www.medworm.com/index.php?rid=1361139&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fnew-hope.html I just got out of a meeting with a Very Nice Angel Investor. He had some really interesting ideas that I am dying to tell you about....but I just can't.....for now.But what I can do is now tell you about how sad I am that I missed "Navigenics 2008 Opening Day" I don't know who was pitching...but from what I heard it was a success. Speaking of success, I just had another patient come to me with the magic 84 page printout. It will be interesting to see how the Mayo study comes out regarding all of these lab reports and patient comprehension. A few days ago a patient was seen by us for Pharmacogenomic analysis and he was puzzled by the laboratory reports and data. He actually thought that the boiler plate information on the bottom of the report was actually personalized. He asked "If I only h... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1361139 Wed, 09 Apr 2008 18:12:00 +0100 1361139 http://www.medworm.com/index.php?rid=1356360&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fover-regulation.html Today I wanted to focus some attention on the issues of regulation and over-regulation. This is super important now that Wired has called this "business" an Industry. (Mr Goetz, next time feel free to call me when looking for quips.) When writing any good business plan one should obviously do a risk analysis and a SWOT analysis. If this is not done there likely will be failure to identify perceived threats to your business or business model. Why is the Sherpa talking about business? Because, Genomic Medicine is being driven by business. Why? Because academia has failed to take the bull by the horns. Why? They are comfortable in their own realm. This is a stretch for them. I often like to blame this on the fact that Geneticists aren't usually trained in Internal Medicine (Most are Pediatric... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1356360 Tue, 08 Apr 2008 12:52:00 +0100 1356360 http://www.medworm.com/index.php?rid=1356361&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Ft-minus-21-hours.html Till Navigenics Launch.......Stay Tuned!-Stevep.s. Congrats to Amy over at....oh wait...she hasn't started a blog yet ;) But in all seriousness, congratulations. Thanks to Jonathan at Tree of Life for leaking this...... (Source: Gene Sherpas: Personalized Medicine and You) Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1356361 Tue, 08 Apr 2008 01:11:00 +0100 1356361 http://www.medworm.com/index.php?rid=1352084&cid=t_112333_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2008%2F04%2F04%2Fdna-direct-replies-to-science-a-case-study-of-personalized-medicine%2F Yet again, I’m frustrated by people confusing web access to genetic services with “direct-to-consumer” testing. Today in Science, Katsanis et al. lump DNA Direct’s gold standard services with what journalists at Newsweek are calling “snake oil.” Contrary to the article published in Science that is being quoted in other news sources, DNA Direct is a healthcare [...] (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=1352084 Fri, 04 Apr 2008 20:20:29 +0100 1352084 http://www.medworm.com/index.php?rid=1344600&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fclia-whats-that.html You gotta love the shenanigans of these supposed non-clinical SNP Chip testing companies.....Yes, I have decided to call them what they are. They are not Genome Testing companies, they are SNP chip testing companies and guess what? Linda and Anne ran into a buzz saw or maybe revealed their true intentions the other day. Thanks to Daniel over at Genetic Future for pointing this "D'Oh" out......It turns out that the lab where they had been testing YOUR DNA....Well, not really because when you sent it to them it became THEIR DNA. It turns out that they are not CLIA certified. What is CLIA?From the WebsiteBackgroundCongress passed the Clinical Laboratory Improvement Amendments (CLIA) in 1988 establishing quality standards for all laboratory testing to ensure the accuracy, reliability and timel... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1344600 Wed, 02 Apr 2008 13:31:00 +0100 1344600 http://www.medworm.com/index.php?rid=1334566&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Foh-when-saints.html That's right, I am off for the big N.O. this next week. I will be attending the Association for Program Directors in Internal Medicine annual chiefs' meeting. I am on the faculty and will be giving a session on....you guessed it. Genetics curricula in Internal Medicine. I will be accompanied by Mike Murray MD of Harvard, Mark Babyatsky MD of Mount Sinai, Cyrus Kapadia MD of Yale and Charles Seelig also of Yale New Haven Health/Greenwich Hospital.We will be getting the group motivated about teaching this important topic. I have to tell you that this is the rate limiting step. I think that the AMA can hand out as many brochures as you want...but change starts from within.So...The Sherpa will be taking a Vay Cay for about a week. I won't stop monitoring the BlogoNome but my output will be dim... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1334566 Fri, 28 Mar 2008 18:59:00 +0100 1334566 http://www.medworm.com/index.php?rid=1331523&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Fi-lost-my-train.html So last week I asked the question. "Where would we be if we had a 1000 USD genome by next year?"....But more importantly I asked "Who would lose if we had a 1000 USD genome by next year?"So who would lose?I am having a hard time coming up with these. I think they tend to breakdown into several groups 1) The group who benefits from not being able to target medicines and diagnoses.2) The group who would is scared to know what the secret of the genome holds3) The group not nimble enough to change their practices and adopt new technologies4) The group whose genomes hold some horrible secrets and disadvantages that have previously gone undetected5) Those who I have left out, the unknown unknownsSo let's address one at a timeFirst up.....Who benefits from trial and error medicine? Who benefits f... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1331523 Thu, 27 Mar 2008 20:07:00 +0100 1331523 http://www.medworm.com/index.php?rid=1327599&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2F500-hospitals-want-to-know.html Lots of stuff happening online today. I just left a conference call where I was the invited guest panelist along with Robert Resta CGC. The Advisory Board Company and The Innovations Center presented an Issue Brief entitled-The Genetic Testing Frontier: Impact on Clinical Care, Market Opportunities. Hundreds of hospitals were online wondering how they too can get a piece of the action.....Also....did anyone read the Washington Post today? Genetic Testing Gets Personal again another article on this "revolution" non subscription link here"We call it consumer-enabled research," said Linda Avey, co-founder of 23andMe, based in Mountain View, Calif. "It's about changing the paradigm of how research is done."Well Said.......You could also call it uninformed cohort analysis...."Free Kits?" Come-O... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1327599 Tue, 25 Mar 2008 19:11:00 +0100 1327599 http://www.medworm.com/index.php?rid=1321250&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Fmatch-day-for-doctorshooray-not.html Imagine training extremely hard for 4 years....AFTER college...only to find that you will have to train for another 3 or for before you ever will be able to say you are a board certified doctor....Now imagine that you may not get your first or second or even third choice as to where you will train for your last 3 to 4. Every year medical students in their last year go from state to state interviewng for positions to train in the specialty of their choice. This trek last approximately 4 months from November to March. In Late February the medical students and the residency directors make their "wish list" much like an NFL Draft list...looking for their next All Star Doctor. This process culminates in Match Day...a day when all the US medical students open up an envelope and find out where th... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1321250 Sat, 22 Mar 2008 14:27:00 +0100 1321250 http://www.medworm.com/index.php?rid=1317896&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Fnot-so-illegal-navigenics-in-new-york.html Well in a blatant disregard for New York State laws or a business plan that does include physicians. Navigenics will Launch April 8th in NYC!!!That's rightFrom a counselor's email sent by dnanyc@navigenics.comDear xxx,Navigenics invites you to be one of the first people in NYC to experience first-hand a leading-edge approach to health and wellness.Navigenics is launching its first genetics service April 8th. We truly believe this company will revolutionize the way we think about our health. Our first service, called the Navigenics Health Compass, tests for genetic risk markers for 18 actionable common conditions—cardiac disease, several cancers, Alzheimer’s among them—and arms you with specific information on how you can mitigate your individual risk for developing each condition, in... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1317896 Thu, 20 Mar 2008 23:40:00 +0100 1317896 http://www.medworm.com/index.php?rid=1312480&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Fwhat-would-we-have.html This report only strengthens my beliefs. To look at what we would have, we need to look at what we NOW have. GWAS through SNPs, SpitKits..because these studies are called genome wide.....some are inferring that to mean genome scans....Which they are not....even if they were....which they are not....what can we do with these things?The knee jerk is "Nothing" The real answer is "It depends" It depends on whether or not we have adequate data defining actionable items. But why does this even matter when the global market for personal gene testing is valued at approximately 730 million USD and growing....who in their right mind would want some of that? Why not make the quick buck for now and stay around for the real party later??? It very well may destroy us, that's why. Enough about now what a... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1312480 Tue, 18 Mar 2008 21:20:00 +0100 1312480 http://www.medworm.com/index.php?rid=1306092&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Ffirst-take-by-mailund.html The first blog response comes From Dr Mailund of Denmark. Thomas is an Associate Professor at the Bioinformatics Research Center (BiRC), University of Aarhus, Denmark. His response is telling and it essentially says what is true....we would initially be "Lost" but not for too longMy goal is to figure out ways to analyse full sequence data for disease mapping. With full sequences, a few things change compared to SNP chip data.First, of course, there is the matter of scale. Now you get 6 billion nucleotides per individual instead of 2×500K or 2×1M as with SNP chips. (This is a huge Point!!! This doesn't include methylation and other epigenetic phenomena either) Second, you are no longer looking for indirect signals, so there are no tagging and multi-marker methods will not be needed to boo... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1306092 Sun, 16 Mar 2008 17:36:00 +0100 1306092 http://www.medworm.com/index.php?rid=1305851&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Fthought.html What if we had a 1000 USD genome by next year? Where would we be? What would we have? What problems would that create? Who would benefit? Who would lose?I have been thinking alot about this lately. Mainly because I had known for a while that the Applied Biosystems' Product was coming in under 60k. Trust me....under 60k USD. My friend and ex-President of TV Guide had sent me something this week and I wondered how quick this would move up the charts and into the press.So I ask my readers..."Where would we be in 1 year from this date if we had the capability to sequence a whole genome for 1000 USD? No not the SNP scans being paraded on the Today show...A whole genome, CNVs and all. What problems would that create? Who would lose? Who would benefit?I have some ideas and will post them in the c... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1305851 Sat, 15 Mar 2008 23:35:00 +0100 1305851 http://www.medworm.com/index.php?rid=1303448&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Fmaybe-not-99-similar-suracell-not-so.html Today I want to post on several things that you may have been reading about. The first of these is the twin studies on copy number variation and methylation. Huh? I said "copy Number Variation and Methylation" What are these? I thought everything was about SNPs? I am certain you must be asking yourself these questions. Well, fear not. Unfortunately methylation and copy number variation do not have millions of dollars, corporate giants, VC or PR firms pushing their importance....But these unique changes make us probably on the lines on 90% similarity. Which, when you look at each other makes a little bit more sense. Right? Just like the fact that 18k genes encode our complex organism. How in the heck does that happen? Well I am here to tell you that SNPs are just the first chapters of our g... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1303448 Wed, 12 Mar 2008 20:51:00 +0100 1303448 http://www.medworm.com/index.php?rid=1291143&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2F60-is-trigger-for-alzheimers.html Finally, a weekday post! I know, I have gotten in this vicious cycle of posting on the weekends and keeping them up for the first few days of the week, just so those readers who don't check the rss or even switch on a CPU on the weekends don't miss a beat. Listen, I read Tim Ferriss' book too...but I now have to step it up.....Today I want to bring an interesting topic to light. Why are people scared of genetic testing? Is it the discrimination (which doesn't exist) or is it something more deeply rooted like "Genetic Determinism"? In counseling for things like breast cancer risk, some often say..."You may have outlived your risk for early onset breast cancer" This is a sticking point for me.....Who ever outlives genetic risk? Completely, I mean. There are so many variables out there that c... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1291143 Mon, 10 Mar 2008 14:12:00 +0100 1291143 http://www.medworm.com/index.php?rid=1289147&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Fi-have-to-start-posting-more-on.html I have to start posting more on weekdays....but when the press is slow and the studies aren't good...I have a hard time giving you fluff. Don't get me wrong. Some sites do a nice job of recapping things posted by other sites and monitoring the crowd for you. I think Hsien, Walter, and Berci do a tremendous job of this. In addition my favorite writer Misha also has a funny thing or two to say at Genomeboy. I also love to point you in the direction of our DNA Network which always has some interesting news.I am writing today to talk about a pretty interesting project going on at Coriell. I had posted on this prior, but now it is personal. I have been invited to sit on The Informed Cohort Oversight Board (ICOB) for the Delaware Valley Personalized Medicine Project. This is a tremendous honor a... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1289147 Sun, 09 Mar 2008 00:59:00 +0100 1289147 http://www.medworm.com/index.php?rid=1283621&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Fwarfarin-in-nejm-and-westchester-wag.html In a brief clash of civilizations today, I happened to be reading the Westchester WAG in the physicians' lounge. What is the Westchester WAG? It is a swanky monthly publication put out to showcase the high and mighty in Westchester County, NY. Yes it is one of the most affluent counties in the country, yes so is Fairfield County CT oh wait....isn't that where you have offices Dr Sherpa? Yes.....I have one on Park Avenue as well so it should come as no surprise that I was reading the WAG....Well maybe it should since I am from a small town in Pennsylvania and from a humble middle class family.While flipping through the swanky weddings I stumbled across an article written by Isadore Rosenfeld a physician reporter who also practices cardiology in New York City at Cornell. It's funny that he w... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1283621 Thu, 06 Mar 2008 20:25:00 +0100 1283621 http://www.medworm.com/index.php?rid=1276105&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Fnew-england-journal-prostate-cancer-and.html This study Blows mere family history out of the water. This study, dubbed CAPS, evaluated Prostate Cancer in Sweden. The analysis of SNPs revealed 5 SNPs which had significant risk implicated...Here's the kicker, if a person has 4 SNPs and Family History, then your Odds Ratio for Having Prostate Cancer is.....get this 9.46 compared to the men who had none of these factors. Take That PSA and Digital Rectal Exam!Now where does this study have shortcomings?1. It is retrospective and this is subject to bias, therefore needing prospective analysis before we will use it.2. This population is a relatively homogeneous population that breeds nationally3. Only one of the SNPs has an identifiable gene. Without a gene, we can only guess what role the SNP may play let alone devise a medication or treat... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1276105 Tue, 04 Mar 2008 01:30:00 +0100 1276105 http://www.medworm.com/index.php?rid=1271599&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F03%2Fcf-success-story.html Today I am writing about something I call truly Personalized Medicine. This topic hits near and dear to my heart and I am going to talk about this because it is an ethical dilemma. The recommendations for genetic screening by the American College of Medical Genetics, the American College of Obstetricians and Gynecologists, and the National Institutes of Health were issued in 2001. According to recent letter in the NEJM it turns out that the birth rate of children with Cystic Fibrosis has dropped. The number of infants born with cystic fibrosis in Massachusetts decreased by 50% from one four-year period to the next according to this letter in the NEJM. They attribute this to the Newborn screening available in Massachusetts since 1999. In addition they also report a drop in those patients bo... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1271599 Sat, 01 Mar 2008 15:51:00 +0100 1271599 http://www.medworm.com/index.php?rid=1269671&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fhaving-breast-augmentation-get-tested.html I never thought I would be reading the Aesthetic Surgery Journal.....but when the word BRCA pops up, I have to take notice.From Medical News Today"Plastic surgeons must play a part in monitoring women who come in for cosmetic breast procedures. These patients should be assessed for potential breast cancer risk by a physical examination as well as a family history evaluation," said Foad Nahai, MD, President of ASAPS and Associate Editor of ASJ. "It is imperative that these patients understand their potential risk, if any, as well as the implications breast surgery may have on future screening, in order for them to make the best possible decision regarding their own care." I never thought I could tell the guys from Nip Tuck to do a 3 generation pedigree.....Well, Now I can. There is a proble... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1269671 Fri, 29 Feb 2008 19:05:00 +0100 1269671 http://www.medworm.com/index.php?rid=1263427&cid=t_112333_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2008%2F02%2F27%2Fdna-direct-news-series-b-funding-to-expand-medical-services%2F Yes, that’s the sound of champagne corks flying at DNA Direct. We’re happy to announce our next round of funding. Our newest investor, Lemhi Ventures, is focused on growing businesses that target disruptive changes in health care, to improve quality and value for consumers. How does DNA Direct provide solutions to disruptive change? Personalized medicine, coming [...] (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=1263427 Wed, 27 Feb 2008 21:43:00 +0100 1263427 http://www.medworm.com/index.php?rid=1261803&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fone-fifth-of-gdp.html What are we doing? Why isn't it working? In a recent report by the Centers for Medicare and Medicaid it turns out the US will be spending one-fifth of it's GDP on healthcare. Here is the big question.....Will we be more healthy as a result? I started this blog to demystify and inform about the field of personalized medicine (A dying term as far as I am concerned....especially because clinicians and the public do not understand it)Let's call it like it is Genomic Medicine or more affectionately Molecular Medicine. Why are we spending so much and getting so little for it? It is called the One Size Fits all model. Last night I ast at a talk given by a physician friend of mine. We were at a very nice restaurant named Valbella! and I was amazed.......the big pharma mantra keeps on being the sam... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1261803 Wed, 27 Feb 2008 16:02:00 +0100 1261803 http://www.medworm.com/index.php?rid=1252881&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Funfounded-nyt-article.html No, I am not talking about McCain. I am talking about the fear of genetic discrimination. In the NYT today there is a wonderful article discussing the genuine fear of discrimination and the lack of proof that it exists. Francis Collins even noted that this fear stands to make genomic medicine and personalized therapies "Dead on Arrival" Guess what? I think he is right. Our patients at Helix Health have some significant privacy concerns and we assure those at the highest levels of security. How can you do it any other way? Even better, the laws do protect our medical records. What is so amazing is that this article shows people going direct to testing companies like DNATraits and DNA Direct. But what I find more telling is the story of Ms. GroveMs. Grove received a DTC test for alpha 1 anti... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1252881 Sun, 24 Feb 2008 17:45:00 +0100 1252881 http://www.medworm.com/index.php?rid=1247999&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fshaking-chills-houston-texas-and-1000.html I couldn't figure out whether I was hallucinating from the fevers or if the email I received from a reader was correct. He said "Could you explain this to me, from 350k now to 1k? How could this be"He was of course speaking about the PacBio (Like Pacific Sunwear/PacSun) technology and press release that Reuters put out there. Man why can't I get on Reuters at the drop of a hat?From the release" A California company predicts it will soon be able to sequence an entire human gene map in four minutes, for just $1,000.""It will change health care forever if it works," Hugh Martin, the chief executive officer of the company, said in a telephone interview on MondayMartin thinks Pacific Biosciences' new technology will be able to get a human genome done in about 4 minutes.Yes, my wonderful readers... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1247999 Thu, 21 Feb 2008 17:46:00 +0100 1247999 http://www.medworm.com/index.php?rid=1245259&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fflu-and-personalized-vaccines.html As I sit here shivering, febrile and with myalgias, I had a thought. "Hey wait a second....I got the flu shot this year". Yes, it is true. For the first time EVER in my adult life I had received the flu vaccine. It's funny, becuase if you think about it, Flu Vaccine IS personalized medicine/Genomic Healthcare.You may be saying, HUH? But it is the truth. The flu vaccine is a combination of two genes...well the protein products of those genes. Yes, much like humans there are several different types of the "flu" Influenza virus. They are classified according to these genes Hemagluttinin and Neuraminidase. Hemagglutinin also called H and then subtyped by number, is useful for the little influenza to stick to the cells it wishes to invade.Neuraminidase also called N and then subtyped by number ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1245259 Wed, 20 Feb 2008 12:10:00 +0100 1245259 http://www.medworm.com/index.php?rid=1232030&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fhappy-valentines-day.html I hope you remembered. I almost forgot, until 9 pm last night. Did you ever have the experience of fishing around the Hallmark aisle, hoping to get a card that is still "just right". Instead what you invariably end up with is a less than perfect card. My wife will never let me forget the year I gave her a card addressed to "My Dearest Friend" Not quite what I was shooting for but hey, it works.This reminds me of what this crazy company offering "Free Genetic Testing" If you want to jump in and look for the scraps, then this is what you will get. A company which is going to sell your demographics and advertising, in exchange they will give you "Free Genetic Testing" I really wonder, do they think that little of the complexity of genetic testing? You get what you pay for, as evidenced by Kno... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1232030 Thu, 14 Feb 2008 19:41:00 +0100 1232030 http://www.medworm.com/index.php?rid=1226839&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fbe-ready-ad-and-pat-sajak.html That's right I saw the Be Ready Ad in between Vanna and Pat. The Sherpa is a "Wheel Watcher" I am always amazed with people. My mother-in-law was sitting with me and she said "Should I get this test?" I said "Wha???" She said, "Will it let me skip mammograms?" I honestly was blown away by this. Especially because she is a nurse. If you are a nurse, you should be health literate. Unfortunately, she is not genetics literate. I then went to give her my counseling shtick and tell her that no one in her family has breast/ovarian cancer. "So why does that lower my risk?" she asked? This is why Ellen Matloff has her website. I am certain that this testing has identified many people not normally thought to be at risk because of limited family structure i.e. all men relatives (But they still could ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1226839 Wed, 13 Feb 2008 00:59:00 +0100 1226839 http://www.medworm.com/index.php?rid=1222422&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fpolls-closed-myriad-tallies-up-and-we.html First I would like to thank everyone who voted on this very non-scientific poll. I extended the voting over a month, thousands of visitors later, we have our results.What Personal Genomics Company is most Likely to be sued?23 and Me - 70%Navigenics - 15%DeCode - 10%Knome - 3%You may be saying "Hey That's Only 98%" I say, "exactly" That's why it's not scientific. For all who may be reading, including my daily friends from Mountain View (that's right, everday)Who exactly will be doing the suing? Maybe an Attorney General? If you are Myriad then that is the case. I prevously posted about this dangerous predicament these genomic companies could be in and the reposted last week about it.As for Myriad, expect more BRACAnalysis ads to be coming. The WSJ reports that the Myriad ad campaign in the ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1222422 Mon, 11 Feb 2008 13:52:00 +0100 1222422 http://www.medworm.com/index.php?rid=1212308&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Flos-angeles-times-calling.html I was on the phone last night with a wonderful reporter from the Los Angeles Times. We had a great conversation about genetic and genomic health care, personalized medicine, babies, breaking and entering, and phone interviews. But what I just realized was missing from the questions she asked is "What laws and regulations will apply to these new personal genomics companies?"New York State has laws on medical privacy, genetic privacy, and human subject protection, making it among the more restrictive states for the conduct of research or genetic testing.New York prohibits the conduct of “genetic tests” without the prior written informed consent of the individual. A genetic test is defined as:“…. Any laboratory test of human DNA, chromosomes, genes, or gene products to diagnose the pr... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1212308 Wed, 06 Feb 2008 00:47:00 +0100 1212308 http://www.medworm.com/index.php?rid=1208084&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fbiowindowsdo-i-smell-buy-o-uhoh.html So I was looking at the scrolling news on the right side (left side for the MDs) of my blog. Yes, I do review some of the stuff on my blog. I found this interesting company that I was perplexed by. It is called Iris BioTechnologies. They have a "magical" product called BioWindows. I say magical because obviously they have not disclosed who in the hell they came up with their technology. They are going to beta this month and launch in the late spring. What is BioWindows? From the site:BioWindows is a very sophisticated artificial intelligence program that analyzes the genomic information from our nano-biochips. Comparing this information with a central repository of genomic profiles, patient survey profiles and reference data provides appropriate treatment scenarios for a variety of patholo... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1208084 Tue, 05 Feb 2008 13:43:00 +0100 1208084 http://www.medworm.com/index.php?rid=1208085&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fkif6-jarvik-and-you.html This study demonstrates a certain population at risk AND a benefit of therapy provided to that group. This is the essence of what pharmacogenomics and personalized medicine will bring to the table.Carriers and noncarriers of KIF6 719Arg received significantly different benefit from high-dose atorvastatin therapy compared with standard-dose pravastatin therapy. Specifically, in carriers of the 719Arg allele, high-dose atorvastatin therapy 80mg, compared with standard-dose pravastatin therapy, reduced the risk of death or major cardiovascular events by 41% (adjusted HR 0.59, 95% confidence interval [CI] 0.45 to 0.77; p This is a pretty good result. Funny how all the cardiologists I know pooh pooh'd the Coumadin genetic testing because there was no clinical outcomes(Not true BTW). Here we hav... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1208085 Tue, 05 Feb 2008 01:37:00 +0100 1208085 http://www.medworm.com/index.php?rid=1200751&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fgenome-boy-friday-scienceroll-hits-yale.html After listening to a great lecture by Berci this afternoon I got so amp'd that I decided to submit my rebuttal to the Nature Genetics editorial. At the same time I was doing that I read an email from a good friend of mine Dr Colby.He tells me about a little known company called Psynomics.From the site:"Our first two products:Psynome™ – tests for two mutations of the GRK3 gene that are associated with bipolar disorder.Psynome2™ –tests for gene mutations in the Promoter L allele gene that predicts patient response to serotonin-based drugs, the most commonly prescribed drug therapies in psychiatry today. These tests are useful to your doctor in making a timely and accurate diagnosis of your condition and prescribing the right medication. The tests can be ordered individually or combin... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1200751 Mon, 04 Feb 2008 20:05:00 +0100 1200751 http://www.medworm.com/index.php?rid=1198081&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fof-slelling-and-men.html Way back in 2004 I was bouncing off the ideas of Helix Health. My ex-partner and I even spoke of how great it would be to have datasets with genomes, biomarkers, physical exam and medical history data. We posited how great it would be to sell these datasets to pharma.....We even thought about creating a CRO to carry out the genetic integration of pharma testing creating PGx specialized research.I only mention this because I got a little blasted for tying 23andME with Tuskegee. Well, not really blasting, just a blog post from a really great new blog called Genetic Future.First, we said "Is this a viable business model?" The answer, a resounding yesSecond we said "Will patients be ok with us giving their data to Pharma companies?" The answer, maybe...but only if they received something back.... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1198081 Sun, 03 Feb 2008 14:51:00 +0100 1198081 http://www.medworm.com/index.php?rid=1196003&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F02%2Fgetting-band-back-together.html The Sherpa is back....and with a vengeance. First, thank you to all who wished myself and my family well. We are doing fine. The family had a member get struck with cancer. It never ceases to amaze me how this horrible disease can bring families to their knees. I look forward to the day which we can detect these malignancies prior to their metastases. Even better, before they ever start.I just spent the afternoon with Genome-Boy Misha Angrist. With Bertalan Mesko coming on Monday I feel like the Blues Brothers. Misha and I had a fun filled lunch and interview. I can't be sure who was interviewing whom, but I am certain both of us walked away more informed. I honestly admire those 10 PGP'ers. Imagine not knowing that these corporate genomics companies would be making such a huge imprint on ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1196003 Fri, 01 Feb 2008 22:00:00 +0100 1196003 http://www.medworm.com/index.php?rid=1159581&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F01%2Fdont-be-evil-devil-to-ben.html An old post.......interesting that I seemed to be right on track....In reading through my RSS feeder I stumbled across an interesting video at Testing Hiatus. It comes from the website Master Plan the Movie. Before you watch this YouTube video I first would like you to take a gander at an excerpt from "The Google Story"Sergey Brin and Larry Page have ambitious long-term plans for Google's expansion into the fields of biology and genetics through the fusion of science, medicine, and technology. . . .One of the most exciting Google projects involves biological and genetic research that could foster important medical and scientific breakthroughs. Through this effort, Google may help accelerate the era of personalized medicine, in which understanding an individual's precise genetic makeup can ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1159581 Fri, 18 Jan 2008 03:16:00 +0100 1159581 http://www.medworm.com/index.php?rid=1149825&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F01%2Fevidence-base-not-eminence-base-for.html I recently reviewed a publication in November by Muin Khoury. Muin has been championing restraint with genomic companies and medicine. In the article entitled"Why should genomic medicine become more evidence-based?" He describes why we need to make the shift and why we haven't been so good at it. One of the biggest reasons is that the geneticists and research PhD geneticists have not needed to use evidence based medicine to publish. This is in direct contrast to large medicine trials, such as those required for blockbuster medicines. In Internal Medicine and Adult medicine, residents are raised on such evidenced based articles to guide best practices.But where are the Internal Medicine Geneticists? What we need is a hybrid of medicine and genomics research. This is translational medicine, ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1149825 Mon, 14 Jan 2008 02:04:00 +0100 1149825 http://www.medworm.com/index.php?rid=1143509&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F01%2Fnavigenics-who-was-that.html So after the New England Journal of Medicine has given Personal Genome Sequencing the thumbs down, I ask you...."What will happen to these personal genome companies?"I have several ideas....1. They all morph into non-health related information tools. Every bell and whistle that can be marketed that will not face the scrutiny of physicians will come out of the wood works. 2. They will begin to say "The medical field has no sense of what the promise of genomic medicine is" They will attack physicians' lack of genomic knowledge. This is the tactic which nutraceutical companies use. The 'Ol "We have a secret....most physicians don't know or won't share......because they want you to have disease"3. They will disappear, like the dinosaurs. A neat phenomenon that gave us something to write about ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1143509 Fri, 11 Jan 2008 00:10:00 +0100 1143509 http://www.medworm.com/index.php?rid=1142674&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F01%2Fgene-genie.html In an article entitled "Letting the Genome out of the Bottle — Will We Get Our Wish?" in the New England Journal of Medicine, I am left questioning if Drs Khoury and Drazen read the Sherpa.These are several themes that I have been raising about Genome Scans and have even spoken with several news reporters and journalists about. From the Article: It may happen soon. A patient, perhaps one you have known for years, who is overweight and does not exercise regularly, shows up in your office with an analysis of his whole genome at multiple single-nucleotide polymorphisms (SNPs). His children, who were concerned about his health, spent $1,000 to give him the analysis as a holiday gift. The test report states that his genomic profile is consistent with an increased risk of both heart disease an... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1142674 Thu, 10 Jan 2008 19:09:00 +0100 1142674 http://www.medworm.com/index.php?rid=1131198&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F01%2Fgarbage-in-gospel-out.html There is an old saying called "Garbage In, Garbage Out" This saying was coined by George Fuechsel an IBM hack. Other such terms like FUBAR, SNAFU, and even KIBO reflect some of the issues we have going on with personalized medicine and even medicine as a whole.This term is especially poignant today when the Wall Street Journal casts a shadow on the field of pathology and personalized medicine testing for breast cancers. The drug Herceptin is one of the Vanguards of what I called personalized molecular medicine therapy.You see, Herceptin therapy is targeted towards a certain type of breast cancer. In this type of breast cancer your cells have a protein located on them that can encourage cells to grow. When this protein is blocked, cells die. Therefore, Cancer is beaten back. The catch, if y... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1131198 Fri, 04 Jan 2008 21:27:00 +0100 1131198 http://www.medworm.com/index.php?rid=1126410&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F01%2F2008-here-we-come.html This study is a neat expression of this unique technology. By identifying patients with a "Genetic Disorder" (What disease isn't genetic?) researchers have created a new piece of nucleic acid that will actually tell the machinery in the cell to do something other than it was coded to do.Say Wha? Ok. Muscular Dystrophy is caused by absence of a certain protein called Dystrophin. If muscle cells can't make this protein, then they cannot function. Children often are wheelchair bound before 10. Why can't they make the protein? Usually, the gene which codes for the protein is defective. Its defect causes the gene to protein machinery to stop making the protein very early in its production. This results in a non-functioning protein. This new product PRO051 tells the machinery to pay no attention... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1126410 Wed, 02 Jan 2008 16:16:00 +0100 1126410 http://www.medworm.com/index.php?rid=1106334&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F12%2Fgenomics-into-new-year.html What will the New Years bring genomics. Well, I have had my ear to the ground and have some ideas.First the obvious1. GINA will be passed by hitching a ride on another bill. How sad is that?2. Navigenics will enter the fray and telemedicine will have a whole new face. What that face will look like is yet to be completely determined.3. One of these companies will get suedNext the less obvious1. Academia will start to market personalized medicine2. Helix will not be the only face to face private (non-Academic center) personalized medicine service...and they will be welcome friends. There are so many out there who need this.3. Oprah will have her Genome sequenced ( I swear it will happen)...Obama tooFinally the inconceivable1. Jim Watson will pass from this earth2. A little unnamed startup wi... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1106334 Thu, 20 Dec 2007 00:15:00 +0100 1106334 http://www.medworm.com/index.php?rid=1093194&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F12%2Ftoxic-epidermal-necrolysis-and.html For those who don't know what TEN is. I have a picture for you. Toxic epidermal necrolysis (TEN) is a clinical syndrome characterized by severe exfoliative skin changes, erosive mucosal involvement, and potentially life-threatening multisystem involvement. Although this syndrome is considered uncommon, its true incidence may be underestimated because of a spectrum of manifestations that may lead to misdiagnosis of milder forms of the disease. TEN most commonly occurs in adults and is seen slightly more often in females. All races are affected Yesterday, the FDA issued guidance for pharmacogenomic testing of patients taking the medication carbamazepine. What is this drug? It is used in prevention of seizures treatment of mood disorders and schizophrenia. More than 100 drugs have been implic... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1093194 Thu, 13 Dec 2007 00:02:00 +0100 1093194 http://www.medworm.com/index.php?rid=1082161&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F12%2Falgorithms-and-validation.html A friend of mine asked me "If the framingham risk assessment fails to take family history into account, then why do we use it to guide anti-cholesterol therapy?" My answer was "It is scientifically validated."In medicine we like to do things based on evidence. It is true that we do many things that do not have solid evidence behind them. But we always try to acquire data and then make a rational conclusion, leading to a treatment. When it comes to risk prognostication, validation studies are extremely helpful. And often keep us from getting sued.So what did the Framingham do to be validated? The Framingham Heart Study and the Framingham Offspring Study were the first epidemiological studies that prospectively collected population based data on the association between risk factors and the o... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1082161 Sun, 09 Dec 2007 14:31:00 +0100 1082161 http://www.medworm.com/index.php?rid=1080505&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F12%2Fgenetics-depression-and-pgx.html In case you have missed it. There will be an excellent talk given at the National Press Club in D.C. I will be sending members of my team to these lectures on the broad policy issues emerging from growing understanding of the genetic basis of depression and other mental conditions, the ability to detect genes responsible for these conditions and offer therapy based on genetic tests, and the policy questions raised more generally by genetic testing for personalized medical treatment.To register for the talks check out the Genetics and Public Policy website. Which brings me to my next topic. Genelex now has a blog. For those who do not know who Genelex is.....From their website:DNA testing industry leader since 1987, we provide accurate, convenient, affordable, confidential DNA testing and t... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1080505 Sat, 08 Dec 2007 01:54:00 +0100 1080505 http://www.medworm.com/index.php?rid=1067895&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F12%2Fwe-need-me-samples.html Genetic Research is a hard business. You have to fight and IRB to get your I's Dotted and Your T's crossed. You have to write and write and write grants to get funding for your ideas. You have to manage the project and work to keep everything on track. But what will the rate limiting step be in genomic research?Perhaps it is the lack of samples?From Medical News Today, an exciting announcement regarding Lupus. Lupus is a terrible disease where the immune system attacks the body's DNA. It can cause horrible things including, stroke, skin disease, kidney disease, brain inflammation. In fact a whole host of persons who have this disease are unable to function in society.A new finding includes the discovery (Not Validation) of a gene implicated in Lupus' pathogenesis (disease cause) OX40L. The... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1067895 Mon, 03 Dec 2007 20:16:00 +0100 1067895 http://www.medworm.com/index.php?rid=1057462&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F11%2F4-days-too-long.html This article I find especially timely. we have always known that genotypic variation plays a role in the metabolism of certain drugs. In this case, 2D6 metabolism has an even more important in the Ashkenazi Jewish. Here they find twice as many persons af Ashkenazi heritage have ultrarapid 2D6 metabolism. This enzyme is the key player in many psychiatric medications....The Sherpa Says: I am absolutely certain that ethnicity will play a huge variable in the frequency of these ultra-rapid metabolizers of any medication. Pharmacogenomics may be meeting genealogy sooner than we think....Thanks to Sherpa Hsien for helping me with a SNP issue the other day...... (Source: Gene Sherpas: Personalized Medicine and You) Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1057462 Wed, 28 Nov 2007 15:16:00 +0100 1057462 http://www.medworm.com/index.php?rid=1048565&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F11%2Fminding-shop.html With all of this hullabaloo about genome sequencing companies and what they might do with your genome, including possibly selling the "de-identified" data to pharma companies. A great business plan, but NOT personalized medicine. I actually received 3 emails pointing out the same idea. I do know a friend of mine who sold his plasmapheresis company to the British Government, not because of the need for products in the UK, but because Bayer was this company's biggest customer.So the whole selling data/product to pharma is a plan which can make tons of money. Which could be the reason why the"genome" service is so cheap. Last time I checked, the best bet at the craps table is the pass line, provided you are on a come out roll. It's the proverbial hook.With that being said, I want to come back... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1048565 Sat, 24 Nov 2007 23:43:00 +0100 1048565 http://www.medworm.com/index.php?rid=1034912&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F11%2Ffrom-wired-magazine-quote-from-anne.html From Wired Magazine, a quote from Anne Wojcicki regarding her Gene Journal and risk calculator"A lot of this is unknown. It's totally experimental," Wojcicki told me a few weeks before the science board meeting. "No one has looked at all eight diabetes markers together. They've all been identified individually, but they don't know exactly how they work together. So we've tried to make that clear."To crunch these numbers and determine one person's risk factor, 23andMe has opted to multiply the risks together. But a competing school of thought argues for adding the risk from SNP to SNP. The two approaches can result in wildly different tallies.Welcome to the first Google driven experiment in genetics, paid for by the customers......Unfortunately that poor author from the NYT demonstrated her... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1034912 Sun, 18 Nov 2007 15:15:00 +0100 1034912 http://www.medworm.com/index.php?rid=1030255&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F11%2F10k-usd-gene-sherpa.html It's official. Our little poll is closed. 18 days, 14 votes. That's pretty sad. But from the limited and not statistically significant data, I am able to draw a false conclusion that the public feels that a Sherpa is worth 10k/yr. How's that for profit margin? Perhaps the readers who felt empowered to vote are geneticists and counselors, therefore obviously biasing the data. But what really is a Sherpa worth? Our Sherpas at Helix Health are worth that much, but cost much less. I was asked today by an investor "Where do you see personalized medicine headed in the next five years" I answered "It depends" Over the weekend I will list my scenarios and go over what I think the outcomes might be in different scenarios, so stay tuned. One of those big scenarios depends on how the data comes out. ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1030255 Fri, 16 Nov 2007 01:16:00 +0100 1030255 http://www.medworm.com/index.php?rid=1024393&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F11%2Fupdates-from-burrill-conference.html Lo and Behold, the Sherpa goes looking for some updates, Epidemix and Wired deliver. My favorite line from Wired is "Early medical testing and treatment could save patients and healthcare providers a ton of money, but nobody wants to pay for unproven and often expensive new lab work. FDA approval is not required for laboratory tests, but it is an indicator that products are actually beneficial to doctors and patients."The best lines from Epidemix areWe’ll see about that - but there were three telling stats that came up during the day. Together, they make quite the case for personalized medicine.1) Half of all prescriptions don’t work for the patients. Most drugs have an efficacy between 20 and 80 percent, averaging around 50 percent. Meaning that they only have their intended effect ha... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1024393 Wed, 14 Nov 2007 00:14:00 +0100 1024393 http://www.medworm.com/index.php?rid=1019449&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F11%2Fscienceroll-reviews-personalized.html Today, Bertalan Mesko at Scienceroll has reviewed three companies. Navigenics, 23 and Me, and Helix Health. For full disclosure, I am not only the owner of Helix Health, I am also a patient. My family has a significant genetic background for disease. Because of this, I was motivated to change the paradigm of current medical/genetics practice.Berci does a nice job of describing the companies and what he estimates their best attributes."If we could merge the real advantages of these companies:the fantastic team of Navigenics and their unique business model;the financial background of 23andMe; the focus on genealogy information and social networking; the personal aspect of Helix Health and their potential to serve and help physicians as well, …then it would be the perfect service. But it’... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1019449 Sun, 11 Nov 2007 15:54:00 +0100 1019449 http://www.medworm.com/index.php?rid=1015060&cid=t_112333_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F11%2Fsherpas-leash.html Well, after the nitroglycerin I had to take for the angina my last post gave me (and I am sure many others) I have decided to ask my readership a question, I am hoping that we could start a dialogue. I know the last time I went at a certain GENEDTC company, a certain CEO asked an unnamed and famous friend of mine to put a leash on me. Next time, I ask the CEO to find my contact info on the Helix Health site and ask me nicely.So I ask you all.Why do you think it is illegal to Direct To Consumer genetic test in New York and Connecticut?Please comment and lets get to the heart of why the DNA sandbox is such a contentious place. (Source: Gene Sherpas: Personalized Medicine and You) Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1015060 Fri, 09 Nov 2007 01:47:00 +0100 1015060