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 '23andme'. Sat, 03 Sep 2011 02:01:43 +0100 http://www.medworm.com/index.php?rid=4911737&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2011%2F06%2F08%2Fdirect-to-consumer-genetic-tests-are-not-beneficial%2F While 23andMe brings down the price of consumer genetic tests and builds up relations with big pharma (doesn’t share individual data though), it seems the DTC genetic testing is neither accurate in predictions nor beneficial to individuals according to a study described on Medical News Today. Working under the supervision of Associate Professor Cecile Janssens, together with researchers from Leiden, The Netherlands, and Boston, USA, Ms Kalf examined the risk predictions supplied by two large DTC companies, deCODEme (Iceland) and 23andMe (USA). They simulated genotype data for 100,000 individuals based on established genotype frequencies and then used the formulas and risk data provided by the companies to obtain predicted risks for eight common multi-factorial diseases – age-re... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=4911737 Wed, 08 Jun 2011 10:53:14 +0100 4911737 http://www.medworm.com/index.php?rid=4636598&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2011%2F03%2Fnon-clinician-misinterpretation-of-dtc.html Ok,In case you haven't all figured it out. Blogs are dead. Mine is too, sorta. I have less and less time to blog as my practice explodes. But there are some things that just merit a blog post.I am on twitter, you can follow me there @genesherpasBut now I am on the Sherpa. Yes, the blog that nearly got me on 60 Minutes and definitely won me the hearts of USA Today to be interviewed...BTW the practice got super busy after that......Today I want to talk about something more serious. The FDA hearings have laid the course clear. Direct To Consumer Genetic testing will be regulated. Why? 1 part potential harm2 parts irreverence for laws and medical regulation 3 parts flagrant misrepresentation of what genetic tests can do.......See Kari S. Disavowal of his company's stupid tag line.......Today o... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=4636598 Fri, 25 Mar 2011 21:06:00 +0100 4636598 http://www.medworm.com/index.php?rid=4631543&cid=t_112102_113_f&fid=38494&url=http%3A%2F%2Fcuretogether.com%2Fblog%2F2011%2F03%2F24%2Fnew-genetic-data-added-to-curetogether-research%2F   I read recently about the idea of a “data donor” – someone who decides to donate their data to disease research rather than the more customary financial contribution. In the future, as people gather more and more information about themselves, and learn the value of this data, I think that data donorship will become widespread. At CureTogether, we’ve just added the ability for our members to upload their 23andMe genetic data to add to the research we’re doing. People are already eagerly adding their genetic data, and once we have enough genomes, we can start making discoveries towards understanding how our genes influence what symptoms we have and what treatments work for us. In the screenshot above, you can see the interface for uploading your 23andMe d... The Collective Well blogs http://www.medworm.com/rss/comments.php?id=4631543 Thu, 24 Mar 2011 14:48:56 +0100 4631543 http://www.medworm.com/index.php?rid=4155341&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F11%2Fconsumer-genetic-testing-for-heart.html Here are the top ten reasons why in its current state, direct to consumer or otherwise, genomic testing for cardiovascular disease risk is dead in the water 1. Family History Risk paints a far better picture and IT IS FREE2. Reynolds and Framingham risk paint a more accurate picture3. An independent panel has reviewed 58 variants, 29 genes, and gave the thumbs down.4. The highest increased risk from any of these tests is 30%, Fam Hx can be as high as 500%5. Kif6 was just shot down as a useful marker.6. Clinical Utility has not been evaluated in ANY of these tests. 7. Spit Parties don't lower cholesterol8. The FDA is hunting down these type of crazy claims!9 . Topol's heart attack gene didn't pan out, why would these?10. A recent 23 gene panel failed to make the grade as well.Let me be crys... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=4155341 Thu, 11 Nov 2010 01:50:00 +0100 4155341 http://www.medworm.com/index.php?rid=4098285&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F10%2Funregulated-dtcg-saved-my-life.html Ok, so if Ellen Matloff hasn't flipped her bobbed haircut, 99245 without 60 min of MD care-insurance billing head yet, then this story will make her and the rest of the counselors who get mad when untrained MDs do BRCA testing flip out.A woman's husband on DNADay takes advantage of 23andMe's rock bottom 99 USD fee. Clearly intended to double their database.....which it didOnly to have her HUSBAND open her results andWHAMMO! You are a BRCA1 carrier! Mazel Tov! Not exactly the "fun" he had been looking for when he saw that flyer.....Why does Myriad market to doctors? Their stance "We are missing a ton of BRCA mutations out there"I agree.So you would think I am happy that an unregulated DTCG testing company that the FDA pilloried finds a medically valid BRCA1 mutation that wasn't suggested by... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=4098285 Fri, 22 Oct 2010 01:11:00 +0100 4098285 http://www.medworm.com/index.php?rid=3816584&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F08%2Freporter-mary-carmichael-will-she-do-it.html " I don't even know if that was a hammer that got dropped on their heads. More like a piano."-Anon Quote re: DTCG and Congressional hearings....When Ms. Carmichael approached me to answer a burning question for her. She got an answer alright, more like a diatribe and then and answer.In case you didn't know, Mary is a writer for Newsweek and is thinking about doing a DTC genetic test kit. In fact, she bought the kit and it is staring her in the face. FYI, she's not in New York, where such activity is illegal, she is in Boston, where it is encouraged......She is taking opinions from just about everyone in the biz. And, yes, she has a comments section for all those Yahoos who feel left out.......My recap here is what Newsweek wouldn't put in their print, but as you know.....I am more than hap... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3816584 Tue, 03 Aug 2010 14:16:00 +0100 3816584 http://www.medworm.com/index.php?rid=3786159&cid=t_112102_109_f&fid=34750&url=http%3A%2F%2Fpsychcentral.com%2Fblog%2Farchives%2F2010%2F07%2F24%2Fgenetic-testing-for-mental-disorders-avoid-23andme-navigenics-others-for-now%2F Genetic testing allows individuals to submit a genetic sample to a company, which then analyzes the genes for known anomalies or other problems. The idea is that by having that information, you may be able to be more aware of potential health problems down the road. Or even stave them off before they become a problem by changing your behaviors, diet, and exercise regimen. Companies like 23andme and Navigenics provide genetic DNA testing reports that purportedly tell you your risk factors for getting not only certain medical conditions, but also mental disorders, like bipolar or attention deficit disorder. This may work fine for some very well-defined health issues, like heart disease (although a recent government investigation into these companies’ abilities to provide even this info... World of Psychology blogs http://www.medworm.com/rss/comments.php?id=3786159 Sat, 24 Jul 2010 13:35:23 +0100 3786159 http://www.medworm.com/index.php?rid=3683798&cid=t_112102_132_f&fid=35006&url=http%3A%2F%2Fnsaunders.wordpress.com%2F2010%2F06%2F22%2F23andme-yes-me-part-3%2F Results! The email is titled “Your Genetic Profile is Ready at 23andMe!” It arrived on June 21, a shade under 5 weeks after sample arrival and well ahead of the estimated 6-8 weeks. This is what we’ve been waiting for. OverviewWelcome to me!On logging in to the 23andMe website, you’re presented with a news feed which confirms that your results are ready. To the left is a navigation menu divided into 4 main sections: My Health, My Ancestry, Sharing & Community and 23andWe. The first 3 are the most relevant with regard to your genomic data. My Health The Health menu has 5 sub-menus: Disease Risk, Carrier Status, Drug Response, Traits and Health Labs. Disease Risk Marker EffectsClicking on “Disease Risk” presents 3 summary tables for elevated, decrease... What You're Doing Is Rather Desperate blogs http://www.medworm.com/rss/comments.php?id=3683798 Tue, 22 Jun 2010 06:17:33 +0100 3683798 http://www.medworm.com/index.php?rid=3658922&cid=t_112102_86_f&fid=38272&url=http%3A%2F%2Flaikaspoetnik.wordpress.com%2F2010%2F06%2F14%2Ffda-to-regulate-genetic-testing-by-dtc-companies-like-23andme%2F Direct-to-consumer (DTC) genetic testing refers to genetic tests that are marketed directly to consumers via television, print advertisements, or the Internet. This form of testing, which is also known as at-home genetic testing, provides access to a person’s genetic information without necessarily involving a doctor or insurance company in the process. [definition from NLM's Genetic Home [...] (Source: Laika's MedLibLog) Laika's MedLibLog blogs http://www.medworm.com/rss/comments.php?id=3658922 Mon, 14 Jun 2010 02:25:05 +0100 3658922 http://www.medworm.com/index.php?rid=3655734&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F06%2Fanswer-to-genomicslawyers-question-what.html Dan Vorhaus JD on his blog says "The path of least resistance may be to simply agree with the FDA....The viability will depend on how the FDA intends to categorize the specific product...."I agree, these companies have big choices to make. If it is any indication, Counsyl (full of smart people) and now, Pathway Genomics (full of smart people) have both decided to go the route of Medical test.Perhaps it is because they think the burden will cost less to investors than fighting the "Man"Well, in guessing what the FDA will do, it is always best to see what they have done to a "similar" product. In this case, they have a great product that is very similar. That would be the FDA's approval of AmpliChip.A friend of mine in Canada argues about the holes in this platform, but unfortunately it is t... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3655734 Sat, 12 Jun 2010 11:32:00 +0100 3655734 http://www.medworm.com/index.php?rid=3652583&cid=t_112102_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=3644932&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F06%2F08%2Fpersonalized-genomics-news-from-virtuality-to-the-streets%2F DNA As Crystal Ball: Buyer Beware (Newsweek): A genome-wide association study identified a new gene variant associated with Alzheimer’s disease but it turned out clinically it’s not useful. “Adding these genes to traditional risk factors, such as age and sex, does nothing to aid prediction” of whether someone will develop Alzheimer’s, she told me. “Knowing your genetic status will not help. We may still be in the Stone Age when it comes to gene-based prediction.” Breaking: Congress to Investigate DTC Genetic Testing (Genomics Law Report): A really detailed and interesting review. The United States House of Representatives Committee on Energy and Commerce today launched an investigation into direct-to-consumer (DTC) genetic testing, sending letters to three promine... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3644932 Tue, 08 Jun 2010 16:43:26 +0100 3644932 http://www.medworm.com/index.php?rid=3635962&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F06%2F07%2F23andme-swapped-samples%2F What we were all afraid of finally happened. 23andMe admitted that it swapped some samples in the lab. Even if these things happen in labs, it should really not happen in such a sensitive area. We, bloggers and geneticians, have been writing about how hard it is for patients to analyze and interprete their direct-to-consumer genetic results properly and how hard it is for this market to remain attractive despite all the criticisms. And now they swap samples. Daniel MacArthur at Genetic Future has a nice review about all the related articles and news. For example, a mother posted her recent story on the 23andMe community: Still upset I checked family inheritance and noticed my daughter shared with me, and then I checked my son’s. He was not a match for any of us. I checked his haplogr... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3635962 Mon, 07 Jun 2010 15:58:36 +0100 3635962 http://www.medworm.com/index.php?rid=3632382&cid=t_112102_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=3590450&cid=t_112102_132_f&fid=35006&url=http%3A%2F%2Fnsaunders.wordpress.com%2F2010%2F05%2F23%2F23-and-me-%25e2%2580%2593-yes-me-%25e2%2580%2593-part-2%2F Sample journey and arrival Spitting across the PacificMy tube of spit arrived at the lab on May 19. Six days door-to-door via Guangzhou, Anchorage and Memphis to LA. 23andMe raw data menuOn arrival, a confirmatory email: “The spit sample you recently submitted to 23andMe for the person listed above has been received by the laboratory and is now pending analysis; the process usually takes 6-8 weeks. You will receive another email notification from us as soon as the data for this sample are ready to be accessed through your 23andMe account.” In the meantime, there’s plenty to explore at the 23andMe website. Anyone can create a demo account, which allows you to explore anonymous sample data to get a feel for what you’ll see when your own sample is processed. Naturally,... What You're Doing Is Rather Desperate blogs http://www.medworm.com/rss/comments.php?id=3590450 Sun, 23 May 2010 04:04:41 +0100 3590450 http://www.medworm.com/index.php?rid=3581780&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F05%2Fhow-bad-can-house-investigation-be-for.html Ok, so you've been summoned to Congress to testify It won't be that bad if you know what you are in for. So let's review.1. A chart listing the conditions, diseases, consumer drug responses, and adverse reactions for which you test;2. All policy documents, training materials, or written guidance materials regarding genetic counseling and physician consultations, including documents regarding what conditions, diseases, drug responses, or adverse reactions trigger the need for genetic counseling or physician consultation, and documents governing communications with consumers regarding individual genetic testing results;3. All documents relating to the ability of your genetic testing products to accurately identify consumer risk, including:a. internal and external communications regarding the... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3581780 Thu, 20 May 2010 12:16:00 +0100 3581780 http://www.medworm.com/index.php?rid=3577552&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F05%2Fcouldnt-you-have-picked-better-gene-set.html I admire UC Berkeley for pushing the envelope. They have been doing it for decades. Encouraging risk taking, and defying stereotypesBut when I read about their summer research project I cringed.We are going to test students' ADH and tell them whether or not they can process alcohol properly.......Excuse me? Ok, I get it, poor metabolizers will cut down on drinking so much, The UC saves on risk management insurance, win for the administration and win for the educators who will then "teach" about the findings......What about that party-hardy freshman who has that timid roommate? well, the roommate just found out that she can process alcohol "just fine"@KTVU news at 11. UC Berkeley student found dead after party."Well, it all started when she found her genetic test results meant that she coul... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3577552 Wed, 19 May 2010 12:49:00 +0100 3577552 http://www.medworm.com/index.php?rid=3563958&cid=t_112102_87_f&fid=38368&url=http%3A%2F%2Ffeedproxy.google.com%2F%7Er%2FDisruptiveWomenInHealthCare%2F%7E3%2FUHjGKILo-L8%2F By Archelle Georgiou. On Wednesday, the FDA suddenly decided to impose their regulatory authority on personalized genetic test kits after Walgreens and Pathway Genomics announced they’d be selling them in local pharmacies. But, what triggered this response from the FDA? Are they new? No. These kits have been available to consumers via the Web for 3 years. Have they been off the regulatory radar screen? No. As far back as 2008, the rapid emergence of genetic testing fueled the passage of GINA, a federal law prohibiting health insurers and employers from discriminating on the basis of genetic information. Have these companies been quietly launching their strategy and staying invisible? No. They have made major investments in marketing with an abundant amount of media coverage in women&... Disruptive Women in Health Care blogs http://www.medworm.com/rss/comments.php?id=3563958 Fri, 14 May 2010 11:57:24 +0100 3563958 http://www.medworm.com/index.php?rid=3564133&cid=t_112102_132_f&fid=35006&url=http%3A%2F%2Fnsaunders.wordpress.com%2F2010%2F05%2F14%2F23-and-me-yes-me-part-1%2F Until recently, I was not even aware that there is a DNA day. Nor can I tell you exactly when and where I noticed that 23andMe, the personal genomics company, launched a sale to celebrate the day – I imagine it flashed by on Twitter or FriendFeed. I can tell you that like many others I decided that finally, I could justify the expense, signed up (with around 15 minutes to spare – thanks to the 17 hour Sydney/California time difference) and I’m now waiting for sample arrival and processing. I thought it might be interesting to blog the experience and provided that I don’t discover anything disturbing (finding out that I’m actually a woman, for example), I’ll share some of my data here. Related posts will be tagged with “23andme” and here is pa... What You're Doing Is Rather Desperate blogs http://www.medworm.com/rss/comments.php?id=3564133 Fri, 14 May 2010 03:52:33 +0100 3564133 http://www.medworm.com/index.php?rid=3471783&cid=t_112102_87_f&fid=38368&url=http%3A%2F%2Ffeedproxy.google.com%2F%7Er%2FDisruptiveWomenInHealthCare%2F%7E3%2FVfbpbwFJYZ8%2F I’ve been called many names…and, most of the time, I ignore it and let it roll off my back. But last week, I got the ultimate compliment. I was ordained as one of the “Disruptive Women in Healthcare,” a blog site that invites anyone, particularly women, to speak up and challenge the health care status quo. Since I got formal permission to be disruptive (as if I really needed to have someone tell me it’s okay), I am going to allow myself to be a bit irreverent in this blog entry. I apologize in advance. The focus of this week’s blog is on the health benefits of personal genetic testing–an emerging area of medicine that intrigues many people when they read about it, but scares them too much to get tested themselves. Yes, the blog last week had a simi... Disruptive Women in Health Care blogs http://www.medworm.com/rss/comments.php?id=3471783 Wed, 14 Apr 2010 23:43:06 +0100 3471783 http://www.medworm.com/index.php?rid=3440747&cid=t_112102_87_f&fid=34872&url=http%3A%2F%2Fblisstree.com%2Ffeel%2Fwho-am-i-anyway-adoption-dna-testing-and-figuring-myself-out%2F This article by Elizabeth Spiers originally appeared on our sister site, TheGloss.com. The earliest available photos of me were taken when I was five months old, just after I was adopted. I have dark hair and freakishly large eyes that seem far too big for my face, like a Japanese anime character. In fact, they’re so big and dark that the rest of my facial features seem almost invisible. All you see are eyes. “Alien baby!” shrieks my friend Clare, spotting one of the photos on the wall of my grandmother’s house. “Look at your eyes!” She puffs out her cheeks and opens her eyes as wide as possible, and laughs. It’s 2003, and Clare has decided that my native Alabama would be more anthropologically interesting than her native U.K. for the Christmas hol... Healthbolt blogs http://www.medworm.com/rss/comments.php?id=3440747 Mon, 05 Apr 2010 16:54:47 +0100 3440747 http://www.medworm.com/index.php?rid=3437869&cid=t_112102_134_f&fid=34841&url=http%3A%2F%2Fwww.diabetesmine.com%2F2010%2F04%2Fteam-type-1-working-with-23andme-to-probe-genes-behind-diabetes.html The high-powered diabetic cycling group Team Type 1 has once again pulled off a jaw-dropping feat: they’ve somehow caught the attention of 23andMe, one of just three celeb-status companies in the world offering “personal genomics services” — they scan people’s DNA for details on their ancestry and individual health risks — and convinced them to [...] (Source: Diabetes Mine) Diabetes Mine blogs http://www.medworm.com/rss/comments.php?id=3437869 Mon, 05 Apr 2010 12:00:10 +0100 3437869 http://www.medworm.com/index.php?rid=3399107&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F03%2Fpgx-in-dtcg-doesnt-stand-up-to-useful.html HT Don Rule today as well as the ENTIRE Pharmacogenomics Advisory Group that I am a proud member of.Don wrote this comment a few days ago"I was curious about what SNPs the DTC companies offer so I wrote a little applet (http://snpweb.cloudapp.net/#/PharmGKBSNPs) to compare them to the SNPs in PharmGKB. It turns out the the Cytochromes are particularly sparse."Well Don, you are correct. Even more so, as we began to review SNP data it became crystal clear on Monday.The reason I was pissed about 23andMe doing the CF testing is because they missed hundreds of potential carrier alleles. What was even more so angering when I realized, you could be "tested" by one of these DTCG companies for "Plavix Metabolism" and come up with the absolute wrong answer. Imagine that. Most people turn to DNA for ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3399107 Wed, 24 Mar 2010 11:38:00 +0100 3399107 http://www.medworm.com/index.php?rid=3370602&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F03%2Fargument-against-dtc-genomics-marketing.html Keith Grimaldi and Daniel MacArthur and Andrew Yates and I have a little bit of confusion. I think we are arguing over 2 different points.First, Keith, Daniel and Drew need to go read a paper I authored entitled "In Need of a Reality Check" published in the May 2009 Nature Biotech Journal.I think many people have misunderstood our messages. So to be simple.A. Keep the Medical, Well, Medical.1. Medical Genetic tests that are to be used clinically should have clinical input2. Medical Genetic tests should be regulated according to the laws of each state/country3. DTC Genomic tests come in several flavors. The DTCG Medical tests should be Medical.I have been championing this one for a LONG time. The arguments for this are pretty clear1. Without clinical input, selling medical tests without an ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3370602 Tue, 16 Mar 2010 12:16:00 +0100 3370602 http://www.medworm.com/index.php?rid=3346637&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F03%2Fwhat-difference-year-makes.html It has been one year since I commented on 23andMe's foray into clinical medicine. I was frankly blown away that such a move would be so blatant without integration of health care practitioners. I also was blown away that Myriad wouldn't sue the ever living bejesus out of 23andMe. A year later, no lawsuit. I am still surprised about this one. Don't you have to demonstrate protection of your patent to keep it?Maybe Google/23andMe are paying a VIG to Myriad? I don't know, but it hasn't shown up on Myriad's SEC reports yet......Why was I so surprised? Well, a few months after 23andMe launched the service AND Myriad did not sue, MYRIAD WAS SUED.I began to wonder if not suing Google/23andMe was a sign of weakness. I was certain Myriad would then shut down the DTC Genomics BRCA testing.To date, t... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3346637 Tue, 09 Mar 2010 12:58:00 +0100 3346637 http://www.medworm.com/index.php?rid=3111600&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F11%2Fyou-can-have-it-both-way-either-scared_1720.html I recently read a Times blog post by Mark Henderson because it was referenced by Dan Vorhaus on Twitter. I have to say, I am blown away by the cognitive dissonance here......entitled " The end of deCODE genetics: are you worried about who holds your DNA?" I was interested in to see whether this was a slash job on deCode or not....."Does this worry me? Not really. First of all, as Dr Stefansson pointed out to me yesterday, deCODE was a publicly traded company, listed on the NASDAQ. It was always up for sale, and in a manner of speaking its ownership was changing all the time."Is he serious? Minor shareholders having access to a company's intellectual property and a hostile board takeover? That is what it would have taken to get the control.....or bankruptcy. Which is yet again another reaso... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3111600 Thu, 19 Nov 2009 01:50:00 +0100 3111600 http://www.medworm.com/index.php?rid=3111605&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F11%2Flong-qt-syndrome-location-matters_1427.html I just saw a family who had Long QT with a KCNQ1 mutation ripping through them. Which is why I loved this email I received from one of my long time readers the day after I saw them.Closer Look at Genetic Testing in Long-QT syndromeOne of my favorite lines from this paper was"Nothing tests the tools of clinical risk prediction quite like sudden death."Ummmm......Uh Huh.They go on to say"The difficulties encountered in the clinical application of genetic data, even in inherited conditions such as the long-QT syndrome (LQTS), in which the transmitted risk of sudden death is several hundred-fold greater than that in the general population, highlight some of the hurdles that must be overcome if DNA diagnosis is ever to transform cardiovascular medicine. "The reader then went on to send me a rel... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3111605 Mon, 09 Nov 2009 14:47:00 +0100 3111605 http://www.medworm.com/index.php?rid=3111606&cid=t_112102_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=3111608&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F11%2Faway-and-now-back-what-did-i-miss_5370.html 23andSerge has layoffs, big surprise. When Linda left, she had a tribe that left too. I am working on hiring one or 2 and will see what exactly was going on over there......Likely a huge cash bleedGAPPNet has their first meeting, which I missed.I will email Dr. Khoury and find out how it went.Daniel MacArthur pointing out that 23andSerge could have bashed bad science, yet instead promoted it......No surprise there either.It looks like 23andSerge fired the engineers and scientists.....and kept the PR and marketing wonks.......Well, in the end it is crystal clear It turns out the lawyers questioned this as well as Misha.....Turns out, if you took the genome, then you probably can sell it.......better yet, if you "acquired it via firesale" you also can probably sell it and break all kinds of ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3111608 Mon, 02 Nov 2009 15:47:00 +0100 3111608 http://www.medworm.com/index.php?rid=2950913&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F11%2Faway-and-now-back-what-did-i-miss.html 23andSerge has layoffs, big surprise. When Linda left, she had a tribe that left too. I am working on hiring one or 2 and will see what exactly was going on over there......GAPPNet has their first meeting, which I missed.I will email Dr. Khoury and find out how it went.Daniel MacArthur pointing out that 23andSerge could have bashed bad science, yet instead promoted it......No surprise there either.It looks like 23andSerge fired the engineers and scientists.....and kept the PR and marketing wonks.......Well, in the end it is crystal clear It turns out the lawyers questioned this as well as Misha.....Turns out, if you took the genome, then you probably can sell it.......better yet, if you "acquired it via firesale" you also can probably sell it and break all kinds of "terms of service" What'... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2950913 Mon, 02 Nov 2009 15:47:00 +0100 2950913 http://www.medworm.com/index.php?rid=3111612&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F10%2Fexcuse-me-harvard-and-navigenics-wtf_8525.html Ok,So I was blown away when I read this juicy little tid bit from Genome Web. NEW YORK (GenomeWeb News) – Navigenics and Beth Israel Deaconess Medical Center in Boston announced today that they will collaborate on training physicians in personal genomic testing.Amazing! I had spoken with Mike Murray up there a while ago and have neen involved in his training curriculum with CMEs for providers. I have always interpreted his opinion on the DTC companies to be suspect of what the hell the companies are doing.In fact when we, Mike and I presented together at the Association of Program Directors in Internal Medicine meeting in 2008 in New Orleans I assumed that their department as well as he didn't much support DTC genomic testing.Which is why the BID move had me puzzled, so I emailed him. Bu... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3111612 Wed, 21 Oct 2009 15:10:00 +0100 3111612 http://www.medworm.com/index.php?rid=3111616&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F10%2Fok-fine-back-to-plavix_4857.html Did anyone else see this?Scripps and Eric Topol are going to be doing testing for 2C19 polymorphisms in their interventional dept."Scripps physicians will initially offer the genetic tests to elective stent patients before they undergo their procedures at Scripps Green Hospital. Eventually, Scripps may extend the offering to its other facilities across San Diego County."I have been prodding Greenwich Hospital to do this.....I hope they do......They could be the El Camino of the East. What are these guys, Topol et.al going to be doing? "Scripps patients carrying the gene risk variants will be considered for three treatment choices following their stent procedures, each on an individualized basis. Patients will either: Be given a routine 75 milligram dose of Plavix with careful surveillance;... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3111616 Fri, 09 Oct 2009 11:25:00 +0100 3111616 http://www.medworm.com/index.php?rid=2800615&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F09%2F15%2Fpersonal-genomics-for-doctors%2F If there is no proper genomic education in medical school, how can we expect medical professionals to be able to answer the genomic test related questions of their patients? There is still a solution (actually the easiest one is valuable post-graduate education). Let’s give them genomic tests and let them see themselves what kind of results they can receive. 23andMe now offers discounted genome scans to clinicians. Excerpts from a Times Online interview with Anne Wojcicki, co-founder of 23andme. “Clearly we need to engage with physicians to help them to understand this information,” she said. “One of the things we’ve talked about is we’d love to get physicians comfortable with their own genomes first, have them understand what does it mean, explore the d... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2800615 Tue, 15 Sep 2009 19:35:35 +0100 2800615 http://www.medworm.com/index.php?rid=2789143&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F09%2F12%2Fpersonalized-genetics-new-journal-and-22andme%2F Conclusions: This first study to simultaneously examine autonomic nervous system genetics, the biomarker complexity, and mortality concludes: (1) ANS genetics and physiologic complexity are independently related to mortality; (2) Genetics and complexity add information over traditional acuity scoring (probability of survival); and (3) Simultaneous assessment of ANS physiology and genetics may yield novel research, diagnostic, and therapeutic opportunities in critical illness. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2789143 Sat, 12 Sep 2009 13:56:53 +0100 2789143 http://www.medworm.com/index.php?rid=2778620&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F09%2Fre-reviewing-national-academies.html After listening closely to Timothy Aitman of the Imperial College of London, it seems to me that the market for DTC is not in the United States.It is in Jolly 'Ol England. Timothy seems to be very Pro-DTC and Dr. Khoury(CDC), Dr. Ganz (UCLA) and Dr Korn (HARVARD) seem to firmly believe that regulations are needed and that they should be treated as one in the same with "Any other Clinical Laboratory that is offering similar services" Frederick Anderson asks, "How far does this go? Does this go to the interpretation or the testing? Or Both?" It seems to me that this panel is Pro-Regulation.Timothy BTW is just a presenter, not a member. My guess, National Academies will conclude that the regulation of these companies currently is not up to par. In fact, they may conclude it is an area in dire... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2778620 Wed, 09 Sep 2009 12:29:00 +0100 2778620 http://www.medworm.com/index.php?rid=2768793&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F09%2Ffirst-mari-now-linda-whos-next.html First,I wish Linda Avey all the best, eve though she stared me down in 2007 like I was some pariah doing awful things screwing up her plans for world domination.......Second,I wanted to point out that this is the second Woman CEO to "step down" to do other things in the personal genomics space.The last was replaced by some guy named Lord. I wonder if 23andME will get a guy named Jesus?The public scoop From Kara Swisher Linda's email to the 23andme drones."I’m leaving 23andMe and have begun making plans for the creation of a foundation dedicated to the study of this disorder. The foundation will leverage the research platform we’ve built at 23andMe–the goal is to drive the formation of the world’s largest community of individuals with a family history of Alzheimer’s, empower them ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2768793 Fri, 04 Sep 2009 23:43:00 +0100 2768793 http://www.medworm.com/index.php?rid=2762088&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F09%2Fsome-confusion-exists.html I have a great comment string going on with Daniel MacArthur over at his blog Genetic Future I think there is some confusion going on here and I place blame on just about everyone in this space who has a mouthpiece.......But mainly I lay blame on the marketing teams for the Direct to Consumer Genomics companies.These companies have an interest in making you "think" that their products have some particular health relevance.Otherwise, no one in their right mind would waste their time with these tests.......Other than the HUGE field of ancestry buffs like Blaine Bettinger J.D. (woohoo) We need clarity here. From Daniel- "The American College of Medical Genetics is saying "Genetic tests of individuals or families for the presence of or susceptibility to disease are medical tests." The fine pri... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2762088 Thu, 03 Sep 2009 12:03:00 +0100 2762088 http://www.medworm.com/index.php?rid=2758015&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F09%2Fnational-academies-skeptical-at-best.html If you would like to watch the IOM conference you can check out day one here My take away from the first day. "Do you guys (DTC) know what you are doing?" "I wonder what kind of research and the quality you can provide?" "I can't believe you aren't regulated already." I think there are some really big issues here and there is some confusion. Questions that remain to be answered.......... 1. "Will these companies sell the customer/patient DNA/data?" 2. "Are these companies practicing medicine?" 3. "How do we quantify personal utility?" 4. "Will regulation really kill these companies?" 5. "What rigors and hoops will be required for these companies with research?" 6. "What will the GAO find about today's DTC companies?" The best thing these companies have done is raise the need for answers an... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2758015 Wed, 02 Sep 2009 14:47:00 +0100 2758015 http://www.medworm.com/index.php?rid=2758012&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F09%2F01%2Fpersonalized-genetics-dtc-genetic-tests-are-hype%2F Seven Reasons Why Home DNA Tests Are Hype (Genetics and Health): Very valid points by Grace Ibay. Next Up – Navigenics (Genome Alberta) Three weeks ago Medcan started offering the Navigenics direct-to-consumer test coupled with a family history and a follow-up once the results are in. If you order the test directly from Navigenics you also get access to counsellors, but in a clinical setting the options to really expand and act on the relevant information become much greater. According to Jill Davies only about 20% of those direct to Navigenics customers actually take the opportunity to follow up with the company and I found that somewhat surprising. Illumina Announces Delivery of the First Genome Through Its Individual Genome Sequencing Service My ‘non-human’ DNA... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2758012 Tue, 01 Sep 2009 21:18:38 +0100 2758012 http://www.medworm.com/index.php?rid=2752079&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F09%2Fiom-not-webcast-today-why-not.html The IOM conference "Direct-to-Consumer Genetic Testing: A Cross-Academies Workshop" will not be webcast today? I wonder why not? Was it supposed to be and then submarined after Muin Khoury quoted an email I wrote him while he was presenting?Why is there no webcast for this important conference today?Maybe I am just a conspiracy theorist.But I would like IOM and the National Academies to explain why the cover one day but not the second.The second day by the way has some great topicsFrom the AgendaSession 5: The Impact of DTC Genetic Tests on the Medical System"If the medical system is no longer required to mediate genetic testing, how will the system cope with losing oversight (and reimbursement) of these services while retaining the full responsibility of caring for patients the services a... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2752079 Tue, 01 Sep 2009 12:43:00 +0100 2752079 http://www.medworm.com/index.php?rid=2727338&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F08%2Fphg-foundation-and-my-point.html A long time ago I had a post entitled "Beware Doctors Bearing Genetic Tests" back in April of 2007. It was an interesting post where I point out that this wonderful GI doctor who was IVY league trained completely hashed genetic testing for HNPCC.I went on to explain the shortcomings with Internists in interpreting APC testing for familial adenomatoid polyposis coli. 1 in 3 misinterpret tests.....Wait till you see the DTC interpretation!Everyone who gets all in a huff when I say that these DTC genetic tests should be regulated. But I am here to say there is a good reason for it, and it has nothing to do with the people getting the tests.......There is now threat of public harm.....But first let me explain my frustration. Saturday I was on Twitter and Daniel MacArthur and I had a conversatio... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2727338 Mon, 24 Aug 2009 11:49:00 +0100 2727338 http://www.medworm.com/index.php?rid=2683954&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F08%2F09%2Fpersonal-genomics-in-second-life%2F Veteran Scienceroll readers may remember when 23andMe gave a presentation in Second Life at the Scifoo event organized by Jean-Claude Bradley and me. Click here to see the whole transcript. Joanna Scott of Nature.com just published something interesting: The next event in our regular series of events on Tuesdays in Second Life will be a presentation and discussion with Chia Hwu and Brian Naughton from personal genomics company 23andMe. Title: 23andMe Date: Tuesday 11th August, 10am PST / 1pm EST / 6pm BST Speaker: Brian Naughton and Chia Hwu, 23andMe Location: Nature Amphitheatre, Second Life Contact: Joanna Wombat / j.scott@nature.com (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2683954 Sun, 09 Aug 2009 11:54:00 +0100 2683954 http://www.medworm.com/index.php?rid=2667614&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F08%2F03%2Fanne-wojcicki-on-23andme-research-revolution%2F I’ve found this video on Eye on DNA. Anne Wojcicki, co-founder of 23andMe, talks about Research Revolution, a new project of them. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2667614 Mon, 03 Aug 2009 19:17:49 +0100 2667614 http://www.medworm.com/index.php?rid=2660868&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F07%2F31%2F23andme-on-video-meet-my-me-ome%2F Jen S. McCabe from Health Management RX shared her genomic results through a nice video. It’s a smart way to present how such a direct-to-consumer genetic company works, but I’m not sure Jen should publish such data. Here is how she collected the salive sample: I got a free kit from Navigenics a few months ago, and I shared my experiences, but not the results. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2660868 Fri, 31 Jul 2009 22:01:42 +0100 2660868 http://www.medworm.com/index.php?rid=2649197&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F07%2F28%2Fpersonalized-genetics-news-genetic-test-registry-and-profiling%2F I try to keep you really up-to-date about news and announcements focusing on personalized genetics on Gene Genie, but I must share some other articles with you now. Navigenics reduced the price of its kit to 999$. You may also be interested in seeing the Navigenics HQ of which I published some images I took myself in Redwood, CA. 23andMe Research Revolution: “23andMe wants to advance genetic research into diseases that affect countless people, and make healthcare more personalized. The Research Revolution program is a way of kicking off that effort by seeding an inaugural set of communities focused on diseases. These diseases were chosen in part because we have identified pre-existing communities that have developed around them — we are excited to expand this list, and welcome f... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2649197 Tue, 28 Jul 2009 13:00:33 +0100 2649197 http://www.medworm.com/index.php?rid=2641448&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F07%2F26%2Fthe-power-of-customer-service-in-genetic-testing-comparison%2F The biggest problem with direct-to-consumer genetic testing is that it’s extremely hard for laypeople (and their doctors) to analyze the results properly. That’s why they need a genetic counselor who can help with the analysis and the interpretation of genomic risk factors even if the majority of these results cannot be used in medical decision-making. I got a test kit from Navigenics a few months ago. I could call their genetic counselor if I need help or I could contact them through e-mail and Twitter. This made me think about the accuracy and speed of the customer services of these companies. According to my experiences, when I asked a question: Navigenics replied in less than an hour via Twitter or e-mail. 23andMe replied in less than a day via e-mail. (Update: and via T... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2641448 Sun, 26 Jul 2009 13:42:03 +0100 2641448 http://www.medworm.com/index.php?rid=2598412&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F07%2Fwhy-sb482-is-bust-i-am-amazed-by-smart.html If any of you were on the receiving end of my email blast, bear with me. I have a few points to make this morning. A coupla weeks ago, June 24th to be precise.......23andSergey reposted a tweet which really got my attention......The original tweet was "@23andMe BTW, you saved me $25 for a CF test - used my and spouse's 23 results instead. Thx!"The user is a really super smart CEO of a company.After Daniel MacArthur and I protested, 23andSergey pulled down the post........Normally not a big deal, but then came a tweet for me which really had me even further convinced of some issues with DTC"@hh Really, how so? Our fertility doc says "either of you been tested as a carrier of CF?", yes, both know status via our @23andme."Do they really know?No. Truth be told, the delta508 mutation is not ex... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2598412 Tue, 14 Jul 2009 11:41:00 +0100 2598412 http://www.medworm.com/index.php?rid=2561483&cid=t_112102_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_112102_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=2512311&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F06%2Fanne-wojicki-first-benadryl-doping-now.html I was actually watching the Charlie Rose interview with the 23andMx ladies....When Charlie Asks what the advantage of 23andMx is.Anne and Linda both say "The problem with the GWAS is that you aren't followed over time. You get one shot and people can't give you further information" What Anne and Linda are saying is: The Coriell Personalized Medicine Collaborative is the gold standard, we are merely trying to monetize something they are doing for FREE.In addition, we are not IRB approved and are unethically doing this business, which is ultimately research. Which IS being done by a Not For Profit Medical Institution, Who is charging nothing I.E. FREE, and we would like to do what they are, but charge you 399 and have the right to sell your data......Oh and did we mention that Google just pu... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2512311 Tue, 23 Jun 2009 16:44:00 +0100 2512311 http://www.medworm.com/index.php?rid=2512312&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F06%2Fwatch-out-corporate-bloggers-ftc-is-on.html Now not only am I bashing corporate bloggers (Some may even call me corporate) Now the Federal Trade Commission has gotten into the game. It turns out that the FTC is on to the game of freebies for good blogging.So to all of you who took free Navi or 23andMx or DeCodeme scans in hopes of them getting good press on your blog, you may have some issues. At least if you are in the US..... From the Yahoo News What some fail to realize, though, is that such reviews can be tainted: Many bloggers have accepted perks such as free laptops, trips to Europe, $500 gift cards or even thousands of dollars for a 200-word post. Bloggers vary in how they disclose such freebies, if they do so at all. The practice has grown to the degree that the Federal Trade Commission is paying attention. New gui... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2512312 Tue, 23 Jun 2009 12:15:00 +0100 2512312 http://www.medworm.com/index.php?rid=2512405&cid=t_112102_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FHEThPiK8Qy0%2F What does mega-search engine Google and mega-genome services company 23andMe have in common? Two actually, and maybe more… First – investments and second, spouses. This week, Google invested $2.6 million in 23andMe on top of the $7 million invested so far. No surprise there, since Google’s co-founder Sergey Bring is the spouse of 23andMe’s co-founder Anne Wojcicki. But as CNN remarked, it’s one the perks of marrying Google.   In another news, biotech giant Illumina has launched a personal genome sequencing service. That is, you can have your entire genome sequenced – all 3 billion DNA - for a hefty price of $48,000. Unlike 23andMe and other genome-testing services where only genotypes are provided, Illumina will provide your entire DNA sequence. But you need a prescr... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2512405 Sun, 21 Jun 2009 06:58:59 +0100 2512405 http://www.medworm.com/index.php?rid=2512316&cid=t_112102_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=2424350&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Fthanks-genome-web-challenge-to.html I have long thought about this and remain convinced that Personalized Medicine is the most powerful tool to improve patient outcomes. The paradigm is clear......In an interview I gave to Berci Mesko at Scienceroll a while ago.....I made clear that there is a difference between personalized medicine and personalized genetics.I know want to make another important distinction......until personal genomes can improve lives by altering current medical care or behaviors known to increase risk of disease, they remain NOT PERSONALIZED MEDICINE!!!So they should not be lumped into the same category as Personalized Medicine.They are what they are. Personal Genomics recreational testing.......Unless of course they are giving you data about disease, but that of course is a different animal....So when I... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2424350 Wed, 20 May 2009 17:51:00 +0100 2424350 http://www.medworm.com/index.php?rid=2424351&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Fauthor-smackdownsorry-dr-kari.html I just received an email from Annals of Internal Medicine and I see a letter to the Authors from Dr Gulcher and Dr Stefansson. I chuckled to myself because I just finished writing a letter to the editor and had another published in Nature Biotechnology entitled "In Need of a Reality Check"Why did I laugh? Letters to the author or editor are written to clarify issues or problems with articles in a NON-Peer Reviewed Manner. They are done to make points for the avid readers of the Journals.It turns out that Doctors Jeff and Kari have found fault with an Article published by Dr. Ridker and Dr. Paynter PhD.....this article showed that the addition of 9p21.3 SNP data to the reynolds risk predictive model, which already includes family history of early heart disease and CRP markers....This additi... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2424351 Tue, 19 May 2009 18:16:00 +0100 2424351 http://www.medworm.com/index.php?rid=2415610&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Fwolfram-alpha-destroys-23andm-strategic.html One of the good things that I thought existed with 23andMe is that they have a nice agnostic platform which aggregates information on certain SNPs, similar but not the same as SNPedia........Let's face it, any knuckle head can do the social networking. But the hard work was the data aggregation......Either way, what I like about SNPedia and Prometheus is it is sort of free......You do have to dump some data into it......As opposed to paying 399 USD to have access to it and your Million SNPs.But now I have seen the death of these sorts of company models......Really? How?Something called Wolfram Alpha....You can watch it being brought on line Today Friday the 15thYou can watch the screencast into as well....Very simple, semantic web stuff.But what is amazing is the possibility of "Wolframmin... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2415610 Fri, 15 May 2009 12:31:00 +0100 2415610 http://www.medworm.com/index.php?rid=2405802&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Fwicked-witch-or-not.html Ok, so everyone knows now that ACMG et.al. is suing Myriad for patents on BRCA1 and BRCA2 testing...........Let me be the first to say that patents stifle research. At the same time patents don't stifle innovation. In fact they actually reward it. And they also give lawyers a job.....aside from Congress, these days this may actually be the only business lawyers can get steady work from......Myriad has built quite a company out there in Utah in case you have missed it. The stock is trading at a decent 32 dollars a share, they have money in the bank and are most importantly delivering a very needed service. In addition, they are helping patients discover risk and have some very useful sets of information and patient support. They also do philanthropy BTW.....So I have to ask myself, should w... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2405802 Thu, 14 May 2009 12:23:00 +0100 2405802 http://www.medworm.com/index.php?rid=2405803&cid=t_112102_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_112102_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_112102_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=2390157&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Feasy-way-to-find-overconfident-and.html I always wonderd who would admit to using the cliniclaly unvalidated SNP chips into their medical practice as if it were standard practice, without having any training at all in genetics.Do you remember my blog post 2 years ago entitled "Beware Physicians Bearing Genetic Tests"Basically I state that if you have not had any training interpreting genetic testing, you are likely to make a hash of it. This is especially true with the highly probabilistic and non-clinically validated SNP scans.So just when I wonder who in their right mind would admit to using this as a clinical tool without any validation......Navigenics makes it easy to find the krazies!!! From the site."Find a physician"A growing number of doctors have collaborated with Navigenics to integrate genetic testing into their medic... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2390157 Wed, 06 May 2009 19:34:00 +0100 2390157 http://www.medworm.com/index.php?rid=2390158&cid=t_112102_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=2390159&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F05%2Fin-my-inbox.html I think maybe the government of Germany has been receiving the same emails as myself. You see, in case you missed it, Germany is banning Direct To Consumer testing of DNA. This is something that I have been covering for almost 2 years now.....not the Germany thing but the whole regulation of what could be construed to be the practice of medicine. Why do I think Angie Merkel has been getting the same emails as me? Well, take a look at my inbox-"There is a new comment on the post "How to Fake a DNA Test".http://www.eyeondna.com/2008/04/13/how-to-fake-a-dna-test/Author: Scooter Jones Comment:If someone wants to fake a DNA test would it work if he put someone elses saliva, sperm or blood in his mouth prior to being tested.?"A while back I said that people could potentially "fake" a DNA test, p... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2390159 Tue, 05 May 2009 12:16:00 +0100 2390159 http://www.medworm.com/index.php?rid=2365310&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F04%2Fargument-maybe-defused-quacksalvers.html Ok,So what happened in the DTC market was a fractionating of services with different "legal" arguments for what they were doing in attempts to avoid regulations which comes with all sorts of health care practice. At that time I argued that these firms WERE DOING healthcare and should be regulated as such.Astute legal times from Navigenics and 23andME said.....we aren't doing medicine. We are only using algorithms to process results of biospecimens .....Despite receiving cease and desistsThey even said, we don't NEED CLIA because we aren't doing clinical testing.......Yes, in hindsight these arguments did seem silly......they seemed silly to me at the time as well. But then these businesses fell in line, sort of..... Paired with CLIA labs and then we all moved on. But what they didn't do is... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2365310 Thu, 23 Apr 2009 12:42:00 +0100 2365310 http://www.medworm.com/index.php?rid=2353989&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F04%2Fsurprise-surprise-genetic-risks-in.html The Annals of Internal Medicine has a great article this week on genetic risks so does the ACMG Genetics in Medicine Journal for May.The take home point is something which people may find interesting and it is something I feel is very real. I have begun to think that these Genomic tests act a lot like a placebo. They often don't add anything clinically. Hell, they may not even do anything to guide therapy (Pgx and high penetrance genes aside)But they often act psychologically, either for good, or for bad.First in the Annals of Internal Medicine; People have been arguing that perhaps testing only ONE snp and representing its risk is for disease is silly and in fact taht the REAL way to represent these risks is with a multiSNP panel. In Fact, this is what has been perhaps the selling point o... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2353989 Tue, 21 Apr 2009 12:00:00 +0100 2353989 http://www.medworm.com/index.php?rid=2349208&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F04%2Fgenome-app-store.html I was reading an article in the economist the other day, a good article mind you. It turns out that Drew Yates was correct. It appears that the hype for DTC Genome scans is waning......That being said, in the article George Church says something which sticks with me:"Dr Church even argues that genome sequencing “will in effect be available free” because companies will give away sequencing to sell other services, such as genetic interpretation—much as mobile operators “give away” handsets to get customers to sign up for lucrative service plans. And when this happens, he reckons, “it will be just like the internet: once all this information is floating around, a lot of creative people with PCs will nose around and develop applications.”Daniel over at Genetic Future put this out... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2349208 Mon, 20 Apr 2009 12:08:00 +0100 2349208 http://www.medworm.com/index.php?rid=2349209&cid=t_112102_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_112102_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=2295293&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fyales-healthcare-2009-conference-and.html I am preparing to speak at Yale School of Management's Healthcare 2009 conference. It looks to be quite a conference. The theme this year will be "Where is the Value? Managing Cost and Quality in a Healthcare System Facing Reform."From the site:The Yale Healthcare Conference is a joint effort between the School of Management and the Health Professions Schools at Yale University that aims to bring together professionals, academics, and students to engage in an instructive interdisciplinary conversation concerning current healthcare issues. This will be the 5th consecutive year and we expect the conference to continue growing to over 400 participants. The planned title and theme for Healthcare 2009 is Where is the Value? Managing Cost and Quality in a Healthcare System Facing Reform. This co... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2295293 Fri, 27 Mar 2009 15:34:00 +0100 2295293 http://www.medworm.com/index.php?rid=2295294&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Ftruth-in-advertising-hello-navigenics.html "San Jose Mercury News writer Chris O’Brien recently featured Navigenics in his write-up of Bay Area companies that are succeeding during this global economic downturn. His profile is a pleasant acknowledgement of all the hard work that has gone into creating the genetic testing service that is most recommended by physicians."That from the Navigenics Corporate Blog.Are corporate blogs a form of advertising? Because if they are I would love to see the statistical research done to prove that Navigenics' testing is the service most recommended by physicians...... I am certain there are many other clinically useful laboratories out their who would beg to differ with Navigenics' assessment of what physicians want. Sorry, Vance.Can I get a little help from the FTC here? The FTC is charged with... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2295294 Thu, 26 Mar 2009 12:09:00 +0100 2295294 http://www.medworm.com/index.php?rid=2295295&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fso-good-that-you-have-to-break-law.html I was asked today by a reporter if I ever gave the thought to the argument that the DTC tests were so groundbreaking, so very vital a technology that the LAWS HAD TO BE BROKEN. For the betterment of society, these DTC companies HAD to break the law. It was their Moral imperative.Really? Hmmm......let me see. Francis is glad these companies are out there raising awareness about genetics. I don't share his thoughts.1) These companies put their genetic data out as fact. Not exactly raising awareness in the right way.23andME does rate articles, but that being said, it isn't exactly and independent evaluation. Navigenics gives you rates or likelihoods, which people often don't get. I say the awareness is often hype and confusion, not a true understanding. The recent Cogent study presented at SA... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2295295 Wed, 25 Mar 2009 13:00:00 +0100 2295295 http://www.medworm.com/index.php?rid=2295301&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2F23andme-says-we-have-no-use-for-your.html In an age where no one trusts anyone and we see defiance of laws for the sake of profit I am still shocked and awed that companies that are formed to "Not be Evil" or to "Benefit Mankind" choose to ignore laws.In healthcare, imagine if your doctor was found to be breaking the law. Stole from Medicare? Non-Compliance with State regulations? Spousal Abuse? Selling Drugs? Most of these are career killers. In fact in CT we just had a large group of GI doctors who are now not doing so well because one of their partners was just charged with endangering a minor.Why is it so vital that physicians, nurses and others in the healthcare field try to stay above the law? Because patients lose trust in the system. They begin to think that their care givers are reckless criminals. And WHO would trust the... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2295301 Mon, 23 Mar 2009 10:23:00 +0100 2295301 http://www.medworm.com/index.php?rid=2295303&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fnavigenics-has-labnys-will-likely.html Navigenics now is the proud owner of a laboratory. Congratulations! Now New York State has some hefty regulations for you. Otherwise, you can't test people in New York.....Pay close attention to numbers 4 and 5....NYS Clinical Laboratory Permit Requirements1. Qualified Director, PhD, 4 yrs post doc work.2. Application and fee 1100 USD3. Inspection4. Assay validation5. Compliance with all applicable statutes and rulesAssay Validation?????1. Assay description Suitable to guide authorized person in ordering the test 2. Consent processConsistent with NYS CRL s 79-l 3. Analytical validityAbility to detect and/or measure analytical target 4. Clinical validityDocumented association of analytical target with clinical condition or outcome 5. Reporting formatInterpretation suitable for non-geneticis... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2295303 Fri, 20 Mar 2009 12:39:00 +0100 2295303 http://www.medworm.com/index.php?rid=2295305&cid=t_112102_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=2274478&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fdtc-genomic-tests-whos-that.html The American College of Physicians is perhaps getting the act together.....Recently I sent an article to the ACP President Jeffrey Harris, I scolded him about how short sighted it was not to include topics on Genetics at the ACP conference in April. I still have received no response back from him......BUT......It appears the ACP is looking for Internists who have experiences with DTC Genomic testing.Your thoughts exactly: direct-to-consumer genetic testsACP Internist is assessing how often internists are asked by patients about direct-to-consumer genetic tests.Tell us about your experiences.Learn more about the impact of direct-to-consumer genetic tests here and here.They link to an article from Greg Feero. In which he says:"This amounts to DTC marketing of the genetic equivalent of a full... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2274478 Tue, 17 Mar 2009 12:19:00 +0100 2274478 http://www.medworm.com/index.php?rid=2267514&cid=t_112102_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_112102_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_112102_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=2260097&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F03%2F11%2Fgenetic-testing-with-23andme-and-navigenics%2F Blaine Bettinger from the great The Genetic Genealogist blog shared his experiences with us about the genetic testing service of 23andMe. I shared my thoughts with you about the service of Navigenics a few days ago. Now you can compare the two reviews and please do let us know what you think about these services if you are a customer. Navigenics: What my genome tells me to do Genetic Testing With 23andMe (The Genetic Genealogist) (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2260097 Wed, 11 Mar 2009 18:15:03 +0100 2260097 http://www.medworm.com/index.php?rid=2260090&cid=t_112102_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_112102_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_112102_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_112102_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_112102_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_112102_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_112102_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=2200894&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F02%2Fi-am-not-man.html As I post in the "southern command" I want to announce.....I AM Not a Man.I repeat.I Am Not a Man.I know, I have man parts. I may have a hairy chest like a man.I may have an X and a Y.But I repeat, "I Am Not a Man!"I am dead serious. I AM NOT A MAN.In a statement to Pharmacogenomics Reporter, 23andMe stressed that offering BRCA testing does not mean the firm is moving into the medical genetic-testing space. It sounds just as silly, doesn't it?BRCA testing is NOT A MEDICAL GENETIC TEST.......BRCA testing is NOT A MEDICAL GENETIC TEST......I think Myriad will beg to differ. A whole bunch of Geneticists and Counselors would as well......Just ask Ellen Matloff CGC, Research Scientist at Yale......"Only a doctor can provide a medical diagnosis and we report information that the current state of... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2200894 Fri, 20 Feb 2009 12:40:00 +0100 2200894 http://www.medworm.com/index.php?rid=2195069&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F02%2Fwhy-facebook-and-not-23andme.html Ok, so I am certain you are all aware of the big hulabaloo surrounding good 'ol Mark Zuckerberg and Facebooks' plans to sell user provided content to companies.........The FacebookOSphere was up in arms!!!!!What happened? He backed down. Here's my question? Why in the hell do you care about that Drunk Photo more than you care about the information contained in your genome. That Drunk Photo is only a snapshot of your poor decisions at 21, easily explained away. But your genome? How do you explain away an APOE e4 genotype? What about a Huntington's Genotype? Familial Hypercholesterolemia?I hope you see where I am going. Once your information is online and once you sign a terms of service which says I'm ok, you can end up with this.To be clear, it's your choice. "We never sell data" without c... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2195069 Wed, 18 Feb 2009 15:10:00 +0100 2195069 http://www.medworm.com/index.php?rid=2188228&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F02%2F23andme-enters-clinical-medicine-realm.html As I had postulated before, in order to move towards a profitable direction the DTC companies would have to choose "Medically Relevant" or "Novelty Testing" From this recent email sent to me by a reader it is clear, 23andME is Choosing to become a clinical service, without accepting the clinical responsibility.Hello Patient X,There's a wealth of new information in your 23andMe account. Our scientists have recently added a number of new articles to our Personal Genome Service, including two that may be of special interest.If you take cholesterol-lowering statin drugs, be sure to check the new article for Statin Response, which deals with rare but serious side effects that may be influenced by genetics. And for our members who have the data> from our v2 chip, we've added important informatio... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2188228 Sat, 14 Feb 2009 18:45:00 +0100 2188228 http://www.medworm.com/index.php?rid=2173430&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F02%2Fdont-take-my-kodachrome-away.html Do you remember when you had to send your film to Rochester NY or Ohio to get developed......you would stop by the store check your last name.........Nope......sorry no pictures yet!! Even the thought of keeping that little tear off tag drove me nutty!It was exciting, but it also was a huge pain in the a$$......What if the pictures were screwed up, you would have to send your negatives back so that they could get run again.........That being said, Kodachrome is the gold standard of photo film, but that is so 1980s. In fact, there is only one processor of Kodachrome in the entire US left other than Kodak of course......These guys had a great economy of scale with the processing centers and in fact it made a very nice business model for a while until Kodak discontinued Kodachrome......Well i... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2173430 Mon, 09 Feb 2009 02:42:00 +0100 2173430 http://www.medworm.com/index.php?rid=2167992&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F02%2Frecessionary-discretionhotcoupons4u.html Yes, I am a big fan of the race to the bottom. At least in the case of SNP scanning. We have seen Navigenics drop their price, deCode drops off the earth and 23andMe???? Well, in a discretionary move they show use the true value of SNP scans.....I give you HotCoupons4U.....The 23andMe special, pay close attention...From the website.....Featured Savings & Discount DealsWin $5000 A Week For Life (Expires 2/26/2009)Win $25,000 Room A Day (Expires 3/6/2009)Dicks Sporting Goods Coupon: $10 OFF (Expires 4/30/2009)Win a Smart Fortwo Car or $14,000 Cash (Expires 10/31/2009)Get Free Nutrish Dog Food Sample (On Going)Honey Baked Big or Small Ham Feast (On Going)$3 Off Disney DVD in The Store (On Going)ToysRUs Free Shipping on Select Toys (On Going)Victoria's Secret December $10 off Any Purchase ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2167992 Fri, 06 Feb 2009 12:22:00 +0100 2167992 http://www.medworm.com/index.php?rid=2149663&cid=t_112102_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FOYsK0PypSK4%2F I hear so much about genetic testing these days that I’ve always wanted to find out what that experience is like for people who had the test done. Sure, it’s painless (just a saliva or cheek scrape will do). But more than the test itself, I want to know what your life is like these days. What was it like to know you are at risk for this X disease? What did you do with your results? Are you now eating, living better? Do you feel trapped, empowered, confused? I do want to know. Maybe I’m the coward who can’t face the mortality of my future. I don’t know that if I knew, I would do something about it, or I would be scared stiff to change. (What’s the point, right?) So hearing from other people who are more adventurous than me would probably help. It turns out, I’m not the only... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2149663 Sat, 31 Jan 2009 15:02:12 +0100 2149663 http://www.medworm.com/index.php?rid=2141593&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F01%2Fnavigenics-does-market-research-finally.html First, I hate blogging about this when so many people have, including Daniel over at Genetic Future.....I probably wouldn't have posted if he hadn't blocked my comment with an error message which states "too many comments have been posted by you in a short period of time"Funny, I have commented on his blog in over 2 weeks.......That being said, at The Sherpa, you can comment a zillion times a day if you want to. No matter whether you want to flame me or praise....Now back to Navi. Who didn't know this was coming? I sure as hell did when I sat with their marketing team and they asked why I wasn't ordering their test....I told them that I had patients paying less for our services for the year than for their test....Prior to that I saw their marketing survey on Gerson Lehman Group....thank fo... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2141593 Thu, 29 Jan 2009 12:03:00 +0100 2141593 http://www.medworm.com/index.php?rid=2116137&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F01%2Fi-am-for-medcos-snow.html I was sent this article by a reader and I have to tell you, I see both sides of this argument. Have you heard? Dave Snow, CEO of MEDCO the largest pharmacy-benefits manager has stated emphatically"I have no patience for a doctor who says, ‘I’m above it all, I don’t want to practice cookbook medicine" He says this when doctors use the excuse that algorithms dumb medicine down and are only needed for PAs ans NPs. Snow is pushing for pay for performance and uses physicians' lack of knowledge against them. Recently MEDCO polled 1000 physicians about the CYP 2C9 genotype test approved by the FDA for Warfarin dosing.....guess how many knew about the test? 3....Yes, that is correct......3 physicians. Do you see how this could infuriate someone who is not a doctor or who has trained in the s... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2116137 Tue, 20 Jan 2009 11:31:00 +0100 2116137 http://www.medworm.com/index.php?rid=2110825&cid=t_112102_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=2092766&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F01%2Fattention-lab-directors-fda-is-coming.html I have been mentioning this several times to several VC firms and to several small companies. If your business plan or investment does not have a section devoted to getting FDA approval, you will soon see that business do 1 of 3 things.1. Be sold to a commercial lab who can get FDA approval quicker2. Become extinct3. Struggle to create a plan to attain FDA approval and be 6 months to 1 year later to launch.Why am I saying this today???? Did anyone look at the NY Times yesterday?Quest admits problems with the Vitamin D test???On Good Morning America Diane Sawyer said "I didn't know that the tests which my doctor ordered are not FDA approved"Translation: A huge amount of public demand on an already strapped organization to regulate and assure the quality of laboratory testing, just as they d... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2092766 Fri, 09 Jan 2009 15:55:00 +0100 2092766 http://www.medworm.com/index.php?rid=2074965&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F12%2F2009-kansas-is-going-bye-bye.html Ok, So last year I closed with a joke from Francis Collins, who by the way, I predict to be the next head of the NIH....The Joke?"There is this woman who is married to a research geneticist......... He keeps telling her how great their sex life WILL be." That certainly was the hype from 2008. As we finally begin to wash ourselves off from the greatest hype and over-selling ever committed in Genomics, we may be a little skeptical...Even the FDA has now jumped on the regulation bandwagon. That's ok. But please don't dismiss Personalized Medicine as dead. Trust me, We've only just begun....To prove this works.....First, I am proud to announce that Helix Health is the newest member of the Personalized Medicine Coalition. In addition, I will be serving on their Clinical Science Committee. I am ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2074965 Thu, 01 Jan 2009 05:13:00 +0100 2074965 http://www.medworm.com/index.php?rid=2074966&cid=t_112102_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=2061532&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F12%2Fcopy-number-variation-epigenetics-bio.html I was watching National Geograpghic HD last night. Yes, I do have a few minutes to watch TV. I always love to watch their in the womb specials. This time it was Twins.What I love is the way they tell the story and teach the science (very lightly). I have to say, I have tried to teach doctors these subjects for a while now and most of what I get are these blank stares.NatGeo has these wonderful graphic animations and weave a story around the animations with real clinical examples that bring the science to life.Maybe we need to start having physicians watch NatGeo. We could scrub NCHPEG and anything EMedicine or UpToDate has to offer (which are average tools and topics).Why? In one brief 60 minutes episode of NatGeo, they covered1. Twins have epigenetic differences, explained epigenetics inc... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2061532 Mon, 22 Dec 2008 12:02:00 +0100 2061532 http://www.medworm.com/index.php?rid=2018091&cid=t_112102_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=1968910&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F11%2F18%2F23andme-poem-enough-to-make-you-spit%2F A reader (beerbelliesuk) just left a comment on one of my posts. It’s a poem about 23andMe, the Google-sponsored genetic company. I have no idea who wrote it but is quite ironic. Psst, you want eternal life? On Sale Now: from Sergey and his wife. All you need to do is pay For them to own your DNA. In return they’ll give you back Information that you lack Genetic risk for this and that: You won’t know what you’re looking at. Some of it will be plain wrong Or else you knew it all along: But you can bet they’ll make it pay Now they have your DNA. If you’re at risk of getting fat You’ll soon be clicking on an ad: There’s always something you can buy To treat you so you will not die. It’s personalised marketing: The latest trend, the hottes... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1968910 Tue, 18 Nov 2008 20:43:52 +0100 1968910 http://www.medworm.com/index.php?rid=1924526&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F10%2F31%2Fbest-invention-in-2008-23andme-or-hype%2F TIME magazine published the complete list of the top 50 best inventions of 2008. The winner is 23andMe, the Google sponsored genetic company that provides SNP genotyping. Spittoon, the official blog of 23andme also covered the subject. While I think their service is important, Medgadget shared some major points with us and I must say they were right. These are the truest words I’ve ever read about direct-to-consumer genetic testing. We say, TIME was probably sucking up to people whose lives have become a never ending effort to hype things onto the common man. You see, whether you take 23andme’s Anne Wojcicki and her husband Sergei Brin (co-founder of a website Google.com, an advertising agency with no customer service), or 23andme’s investor movie mogul Harvey Weinstein, ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1924526 Fri, 31 Oct 2008 17:50:51 +0100 1924526 http://www.medworm.com/index.php?rid=1921019&cid=t_112102_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FlJ_NKmdC8Bk%2F Just two years since conception and personal genome services company 23andMe’s Personal Genome Service™ has earned TIME Magazine’s Best Invention of the Year for "its exceptional work in making personal genomics accessible and affordable". Dubbed the Pioneer in retail genomics, 23andMe is able to provide genetic risk and predisposition for more than 90 traits and conditions to clients for only $399.00 and a saliva kit. Clients don’t even have to leave home to do it, and they can access it all in their personal website/database. If they so wish, clients can even compare their genomes with other family members who are also 23andMe participants. This award makes the point that genomics revolution is here faster than we thought possible when the human genome... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1921019 Fri, 31 Oct 2008 04:17:29 +0100 1921019 http://www.medworm.com/index.php?rid=1868564&cid=t_112102_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FIQlSHm8IJGM%2F With genetic testing companies sprouting everywhere, people now have the resource to know their risks for certain types of disease. Companies like Navigenics, 23andme Inc. and DeCode Genetics all offer genetic tests to their consumers to show whether certain genetic mutations make them more likely to develop diseases such as heart disease, cancer or diabetes. But is it enough to know? Or will knowing what the inherent risks are motivate a person to make changes to his lifestyle to prevent the disease from developing? Surprisingly, no research has been performed that answers this question. "There are a lot of anecdotes about this, and the question is, What is the impact? It’s been dangling for a while and no one has really orchestrated a project like this until now to study it... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1868564 Sat, 11 Oct 2008 07:46:03 +0100 1868564 http://www.medworm.com/index.php?rid=1862816&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F10%2F08%2Fpersonalized-genetics-on-the-train-again%2F I’ve got a huge backlog now, but will try to keep sharing interesting genetic articles and posts with you regularly. So here is this week’s collection: One of the main issues in the blogosphere is the 1000$ genome, the aim is to let everyone access their genomic data for 1000$. We thought we could reach that goal in the next couple of years, but according to Blaine Bettinger’s post, it might be done by the end of 2009. The Genomic Revolution and the Future of Medicine and Health: A nice lecture about an essential subject Do you have any idea how much your genome will cost? Mailund on the Internet has a great post with graphs. Do you remember the post Steve Murphy wrote and my thoughts on how Brin helped promoting his wife’s genetic service? Sergey Brin ju... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1862816 Wed, 08 Oct 2008 18:50:03 +0100 1862816 http://www.medworm.com/index.php?rid=1856402&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F10%2Ftranslated-yet.html I am posting in response to Drew at ThinkGene. He says no one will follow mandates unless they have the history to understand those rules. To lay some background for why medical researchers have policies, rather than gunsling it out I will give some background. From HHS.....The modern story of human subjects protections begins with the Nuremberg Code, developed for the Nuremberg Military Tribunal as standards by which to judge the human experimentation conducted by the Nazis. The Code captures many of what are now taken to be the basic principles governing the ethical conduct of research involving human subjects.In case you may have not learned in school or just forgot this lovely wikipedia article will refresh your memory. So will this list:1 Experiments1.1 Experiments on twins1.2 Freezin... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1856402 Mon, 06 Oct 2008 12:33:00 +0100 1856402 http://www.medworm.com/index.php?rid=1785996&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F09%2F11%2F600%2F My dear friends, I told you before… You just lost 600$ for being less patient than us. 23andme lowered the price of their service from 999$ to 399$. Even if I still think it’s not worth it, more patients will get access to their genetic background because of the lower barriers. An excerpt from the New York Times report: The move might touch off a price war in the nascent business. The company’s main competitors, Navigenics and deCODE Genetics, charge about $2,500 and $1,000, respectively. Mari Baker, chief executive of Navigenics, said the company would not be reactive to what its competitor did, saying that “cheapest wasn’t always best.” She expressed some surprise at 23andMe’s new price, saying, “I know what our costs are. They are many times greater than that.”... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1785996 Thu, 11 Sep 2008 18:32:02 +0100 1785996 http://www.medworm.com/index.php?rid=1782864&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F09%2Flot-to-chew-and-then-spit.html As my friends and I work furiously to get the Sherpa's Plan to public(BTW it will be released in parts, and no I didn't spend a T.Boone Pickens like 1.2 billion dollars on it.) , some things have happened in the blogosphere. Let's recap.Last month I receive an emailer about price point from Navigenics. My friends who took the test did too.This had me wondering......what is the market for a test? I delved back into my business plan from 2005. You know...the one where I actually created 23andMe but called it HelixHealthcare. I looked at the stats on who would pay what for a test and it hit me.......they're gonna drop their price and service. And switch to a full subscription model. BTW, in my old model the feds don't get us, but the customers do b/c they aren't trusting what we are doing wit... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1782864 Thu, 11 Sep 2008 11:39:00 +0100 1782864 http://www.medworm.com/index.php?rid=1726391&cid=t_112102_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2008%2F08%2F22%2Fnavigenics-and-23andme-cleared-for-sale-in-california%2F We are very pleased to see that Navigenics and 23andMe have reached a resolution with the State of California that allows their businesses to move forward with clarity offering their personal genome services to California residents. It’s great news for all– for consumers, the industry, and best of all– for innovation. (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=1726391 Fri, 22 Aug 2008 19:32:41 +0100 1726391 http://www.medworm.com/index.php?rid=1607018&cid=t_112102_118_f&fid=36984&url=http%3A%2F%2Ffeeds.feedburner.com%2F%7Er%2FHealthManagementRx%2F%7E3%2F330860404%2Fis-it-all-in-genes-part-i-us-dhhs.html *Blogger's notes:1. Commentary crossposted @nexthealth.nl.2. This is a long post. To skip the running panel transcript, scroll down the page for thoughts on the current state of consumer-direct genomics and where the sector may be headed. Matthew Holt is up next at the Ronald Reagan International Center in DC (July 6, 2008), where the US DHHS has arranged today’s “Understanding the Needs of Consumers in the Use of Genome-based Health Information Services” workshop. Michael Cowan, Bearing Point and former Navy Surgeon General – opens the panel with a bang, comparing the healthcare sea change taking place courtesy of genomic advances to the recent release of Manhattan Project data. This area of medical investigation is high-impact, no doubt about it. To Matthew’s left on... Health Management Rx blogs http://www.medworm.com/rss/comments.php?id=1607018 Wed, 09 Jul 2008 14:53:00 +0100 1607018 http://www.medworm.com/index.php?rid=1575471&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F07%2F03%2Fgenetic-companies-in-trouble-in-california%2F Months before, Steve and I, we both said it would happen. And now look at this announcement: The California Department of Public Health has issued notices to 13 laboratories to cease and desist performing genetic testing for California residents until the laboratories meet the requirements specified in state law.  Any laboratory offering genetic tests to California residents must be licensed as a clinical laboratory in California. The tests must be ordered by a licensed physician and validated.  Tests for paternity and genealogy are not subject to these laws. Just an example from one of the letters: 23andMe must immediately Cease and Desist offering genetic tests to citizens of California until a license has been issued by the Department. Any advertising for genetic services, whether it... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1575471 Thu, 03 Jul 2008 09:56:55 +0100 1575471 http://www.medworm.com/index.php?rid=1543322&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F06%2F24%2F23andme-in-second-life-live%2F 23andMe, one of the (if not the) most famous companies focusing on personalized genetics, presented a slideshow today in Second Life in the latest session of the Scifoo Lives On series. The speakers were Erin Davis (science writer) and Joyce Tung (human geneticist). The title was 23andMe and 23andWe. Details here. Live coverage starts (Pacific Time): 9:30: The poster is up, everything seems to be ready. The first speaker, Erin, just arrived. The other residents are having a rest… 9:40: The audience is slowly bigger and bigger. You can also follow us on Twitter. Our speaker, Joyce, just arrived. Here are both speakers: 9:55: A few more people and some weird creatures arrived. 9:58: Here is the crowd. We are really thankful to Second Nature for the place. 10:05: I launche... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1543322 Tue, 24 Jun 2008 16:34:52 +0100 1543322 http://www.medworm.com/index.php?rid=1543323&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F06%2F24%2F23andme-in-second-life-today%2F Just a quick reminder. 23andMe, one of the (if not the) most famous companies focusing on personalized genetics, will present a slideshow in Second Life in the next session of the Scifoo Lives On series. Time: the 24th of June at 10:00 AM Pacific Time (= 17:00 GMT). The speakers: Erin Davis (science writer) and Joyce Tung (human geneticist) The title: 23andMe and 23andWe If you would like to participate, here is the teleport link and some details as well. I already set the poster up: (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1543323 Tue, 24 Jun 2008 11:45:05 +0100 1543323 http://www.medworm.com/index.php?rid=1535796&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F06%2F21%2F23andme-in-second-life-2%2F Just a quick reminder. 23andMe, one of the (if not the) most famous companies focusing on personalized genetics, will present a slideshow in Second Life in the next session of the Scifoo Lives On series. Time: the 24th of June at 10:00 AM Pacific Time (= 17:00 GMT). The speakers: Erin Davis (science writer) and Joyce Tung (human geneticist) The title: 23andMe and 23andWe If you would like to participate, here is the teleport link and some details as well. I’m looking forward to meeting you inside Second Life. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1535796 Sat, 21 Jun 2008 12:18:31 +0100 1535796 http://www.medworm.com/index.php?rid=1508489&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F06%2F09%2F23andme-in-second-life%2F After months of e-mails and talks, now it is official: 23andMe, one of the (if not the) most famous company focusing on personalized genetics, will present a slideshow in Second Life in the next session of the Scifoo Lives On series on the 24th of June at 10:00 AM Pacific Time (= 17:00 GMT). I’m really happy because they have the potential to prove the advantages of Second Life in global communication. And 23andMe will be the first genetic company to give a talk in the virtual world. They seem to be quite open to the web 2.0 world as they will be one of the sponsors for the BioBarCamp that is a more than interesting unconference organized be Attila Csordás (unfortunately, I live in the other side of the world…). If you would like to participate: Register at Secondlife.com Do... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1508489 Tue, 10 Jun 2008 05:54:18 +0100 1508489 http://www.medworm.com/index.php?rid=1480722&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F05%2F30%2Fnew-genome-browser-from-decodeme%2F I’ve already analyzed the genome browser of 23andMe, one of the best known personalized genetic companies. Now here is the new genome browser of DecodeMe, another famous company. You open the browser: Then you can choose which SNPs you are interested in: It looks impressive. Give it a try and let me know your feedback. Further reading: Demo Account at 23andMe: Analyze Your Demo Genes! Personal Genome Explorer at Home: How to analyze the results of your genome? What you have to know about personalized genetics! Personalized Medicine: Real Clinical Examples! (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1480722 Fri, 30 May 2008 19:09:12 +0100 1480722 http://www.medworm.com/index.php?rid=1467131&cid=t_112102_107_f&fid=36585&url=http%3A%2F%2Ffeeds.feedburner.com%2F%7Er%2FHighlightHEALTH%2F%7E3%2F297549151%2F Conclusion That concludes the 32nd edition of Gene Genie. My thanks to everyone who submitted an article. You can find more information about the carnival as well as the hosting schedule and past editions at the Gene Genie Website. The next edition will be hosted at Neurophilosophy on June 8th. References Google Backs Harvard Scientist’s 100,000-Genome Quest (Update2). Bloomberg.com 2008 Feb 29. Pearson H. Genetics: what is a gene? Nature. 2006 May 25;441(7092):398-401. View abstract Gotlib et al. HPA axis reactivity: a mechanism underlying the associations among 5-HTTLPR, stress, and depression. Biol Psychiatry. 2008 May 1;63(9):847-51. Epub 2007 Nov 19. View abstract McGowan et al. Promoter-wide hypermethylation of the ribosomal RNA gene promoter in the suicide brain. PLoS ... Highlight HEALTH blogs http://www.medworm.com/rss/comments.php?id=1467131 Sun, 25 May 2008 04:01:35 +0100 1467131 http://www.medworm.com/index.php?rid=1418607&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2F2-women-one-prize-oprah-and-new.html The Albany Medical Center Prize in Medicine and Biomedical Research was recently awarded to 2 scientists for their work on snRNPs and Telomerase. Oh yes, that magical molecule that will allow us to live as long as Methusaleh, or some would claim. What is telomerase?The "clock" of cellular life was once a mystery to scientists. But soon they found that telomeres, the tips of chromosomes. Or as Dr Oz loves to say, the wrapping at the end of the shoelace, becomes progressively shorter over the life of a cell and when they become too short, cells die.Dr. Blackburn one of the 2 scientists showed that telomerase can add DNA back to the ends of telomeres and effectively turn back the clock. enabling cells, and theoretically us, to live longer.This has allowed Oprah and Dr Oz to give quite a show ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1418607 Sat, 03 May 2008 13:48:00 +0100 1418607 http://www.medworm.com/index.php?rid=1389191&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F04%2Fare-you-serious.html While I was lauding Misha ( One of the 10 PGP'ers) and correcting some misconceptions about the PGP informed consent process....something much bigger was happening. I don't know how I missed it...but I did...Google Buys Into Navigenics!!! That's right...Google now has a stake in 2 of the big 3.......Me? I am the 4th...merely a little guy. Our humble abode is now protected thanks to the NYS and CT Attorney Generals...for Now, well at least until Google can buy New York State.From Business Week!!Size of Investment Not DisclosedCalling 23andMe an example of a company "generating a whole new batch of information of interest to a broad range of people," Pederson says Google wants to extend its capabilities into genetic testing. The precise path and business contours of the emerging gene-testing... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1389191 Mon, 21 Apr 2008 15:45:00 +0100 1389191 http://www.medworm.com/index.php?rid=1349625&cid=t_112102_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F263534364%2F   (Courtesy of WAMU 88.5 FM American University Radio, Washington, USA) This is a really interesting radio clip from The Diana Rehm Show on WAMU radio on the whole issue of personal genetics. http://wamu.org/programs/dr/08/04/01.php#20091 and click on either the real audio or windows media buttons “A growing number of people are turning to personalized genetic testing to learn about possible predisposition to some diseases, inherited behavioral traits, and clues to their family heritage. We’ll talk about what these tests can tell us and some of the new questions they raise.” Guests Dr. Francis Collins, director of the National Human Genome Research Institute Beth Peshkin, senior genetics counselor, Lombardi Comprehensive Cancer Center, Georgetown University Medical Cen... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1349625 Thu, 03 Apr 2008 19:59:28 +0100 1349625 http://www.medworm.com/index.php?rid=1340653&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F03%2F31%2Fwhat-you-have-to-know-about-personalized-genetics%2F Genes load the gun. Lifestyle pulls the trigger. By Dr. Elliot Joslin I’ve written at least a hundred times about personalized medicine so it’s the perfect time to come up with a short description of what individualized medicine is about. In this new world of medicine, you get a treatment that is not only based on the epidemiological data of your population, but your own genetic background. But let’s start with a more appropriate definition: Personalized medicine is use of information and data from a patient’s genotype, level of gene expression and/or other clinical information to stratify disease, select a medication, provide a therapy, or initiate a preventative measure that is particularly suited to that patient at the time of administration. Personalized medicin... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1340653 Tue, 01 Apr 2008 07:12:26 +0100 1340653 http://www.medworm.com/index.php?rid=1317796&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F03%2F20%2Fpersonalized-genetics-the-user-aspect%2F As personalized genetics is still rising, users start to write more and more posts about these genetic services. And this user aspect should and will play a major role in the future of genomic medicine. Spit Challenge: Fill Tube With 2.5ml of Saliva in Under 146sec: He just recieved the 23andMe saliva kit. Hsien at Eye on DNA had an important message for us: Do not trust any genetic testing company that does not make it clear what genetic variants they are analyzing. Never let anyone take your DNA unless they are clear about what they plan to do with it, what information they will give you from the analysis, and what they’ll do with the DNA after all the testing is complete. You are the consumer. You have the right to choose and the right to say no. Steve Murphy asks an interestin... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1317796 Thu, 20 Mar 2008 22:32:53 +0100 1317796 http://www.medworm.com/index.php?rid=1311105&cid=t_112102_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F253626281%2F In January, The New England Journal of Medicine published an article criticizing the popularization of genetic testing by companies such as 23andme, deCode, Navigenics and Knome who doctors believe are introducing genetic testing prematurely into a commercial setting and confusing public and medics alike.  The authors of this article coined the phrase ‘recreational genomics’ for this type of testing. While all of these companies claim that their tests should not be used as the basis for medical decisions, some physicians are concerned that customers for these tests will nevertheless begin seeking medical direction based on their results.  Doctors have been unprepared for the genetic advice they need to give their patients.  The British Medical Journal has also publi... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1311105 Tue, 18 Mar 2008 13:16:53 +0100 1311105 http://www.medworm.com/index.php?rid=1296094&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F03%2F11%2Fdemo-account-at-23andme-analyze-your-demo-genes%2F I thought I should create an account at 23andMe and see what happens with my demo genes. Of course, you cannot analyze your own genes (or you can, if you ordered their service), but the genetic background of the Mendel-family. I started with the Gene Journal where you can check whether you have elevated risk for some specific medical conditions. It’s not so easy to tell you your exact risk, because even if some single nucleotide polymorphisms (SNP) in your genome indicate an elevated risk for heart disease for example, there might be some others SNPs we don’t know yet which lower your risk. So it’s really hard to give you a reliable result. That’s why it would be so important to talk with a geneticist about your genomic data. As your doctor won’t send you you... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1296094 Tue, 11 Mar 2008 22:06:50 +0100 1296094 http://www.medworm.com/index.php?rid=1252850&cid=t_112102_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F240296501%2F Family Tree DNA advises it is now offering DNA Traits a personal genomics service that specializes in DNA testing for specific diseases. This company offers individual tests, group tests, and even a membership plan, all for relatively cheap prices compared to the other companies offering genome-wide SNP scans. The difference between them and their competitors, they claim, is that the patient has to meet with a genetic counselor before he or she can directly access resulting data. Sorry, not a new service - Opaldia has been doing this for a number of years.  Opaldia’s difference is that customers also meet with a Consultant Specialist as well as a Genetic Counselor.  Also, if genetic variations are discovered and a customer’s risk of developing a disease is increased, a cu... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1252850 Sun, 24 Feb 2008 09:40:55 +0100 1252850 http://www.medworm.com/index.php?rid=1179936&cid=t_112102_132_f&fid=35006&url=http%3A%2F%2Fnsaunders.wordpress.com%2F2008%2F01%2F27%2Fthe-23andme-blog%2F 23andme have been blogging for a while, but activity has recently picked up. Entitled “The spittoon” (tagline: more than you’ve come to expectorate…nice one), a recent post is bluntly headed “Why science can’t share” and points us to this NYT article by a cancer biostatistician on the difficulties in accessing raw biomedical data. The 23andme post is filed, quite appropriately and correctly, under “big questions”. A blog worth keeping an eye on. (Source: What You're Doing Is Rather Desperate) What You're Doing Is Rather Desperate blogs http://www.medworm.com/rss/comments.php?id=1179936 Sun, 27 Jan 2008 08:24:30 +0100 1179936 http://www.medworm.com/index.php?rid=1169773&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F01%2F22%2F23andme-in-europe-donation-makes-sense%2F Today, Hsien-Hsien Lei at Eye on DNA shared an important announcement with us. 23andMe services are now available in Canada and Europe (press release). It means my donation campaign just makes sense now. Please donate to have my genome sequenced. Anyway, we have an other blog to follow,  The Spittoon from the 23andMe team. Further reading: Personal Genome Explorer at Home: How to analyze the results of your genome? Navigenics, 23andMe and Helix Health: The Review 23andMe: The Re-Review 23andMe’s animated guides to genetics Collection of Personalized Genetics-related articles (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1169773 Tue, 22 Jan 2008 20:25:24 +0100 1169773 http://www.medworm.com/index.php?rid=1167219&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F01%2F22%2Fpersonal-genome-explorer-at-home-how-to-analyze-the-results-of-your-genome%2F The Idea of the Month Award should certainly be given to Andrew Scheidecker who created a personal genome explorer tool in order to analyze his own data from 23andMe. But let’s read his explanation: At the time, 23andme’s website didn’t allow you to download the data they gathered from your DNA; my first goal was to write a tool that would allow you to do that. The tool connects to their website via HTTP and parses the raw data from the HTML pages. This doesn’t violate their terms of service and shouldn’t overload their servers; a maximum of 2 simultaneous connections is used by the tool. The raw data it reads is in the form of a mapping from Single Nucleotide Polymorphisms that 23andme tests (around 600,000 SNPs) to the genotype of that SNP that you matched. It will take a f... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1167219 Mon, 21 Jan 2008 23:23:00 +0100 1167219 http://www.medworm.com/index.php?rid=1122161&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F12%2F30%2Fpersonalized-genetics-the-last-words-in-2007%2F I promise these will be the last words about personalized genetics thiy year. The “hypest” topic of 2007 was individualized medicine, no doubt about it. When I first read the announcement of 23andMe, I wanted to use their service, but as a European, it’s still impossible. So here are others who have recently recieved their results. Personal Genome Results from 23andMe and deCODEme (Eye on DNA) Everything you need to last you two lifetimes (Free Association) Have you been thinking about the medical breakthroughs of the year? Well, Science described some of them: It’s All About Me: Personal Genomics Human Genetic Variation Individualized medicine has serious scientific aspects: Personalized molecular medicine may revolutionize treatment of genetic disorders Imp... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1122161 Sun, 30 Dec 2007 21:14:05 +0100 1122161 http://www.medworm.com/index.php?rid=1060033&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F11%2F30%2Fknome-the-review%2F As today is the day when Knome launches the first commercial whole-genome sequencing and analysis service for individuals, I thought it’s time to write the review about them. If you want to read the review about 23andMe, Navigenics or Helix Health, check out this post. Website: Design: Too simplified. It looks like the site of 23andMe in the old days, so I’m pretty sure it’ll change a lot soon. Informativeness: An About me page that mentions the founders; and a FAQ page that aims to answer all the important questions. Anyway, they fail to mention the details of their “comprehensive” analysis and the other team members like clinicians or geneticists. They don’t tell us how they predict disease-associated risks neither. Team: The main advisor is un... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1060033 Thu, 29 Nov 2007 23:18:36 +0100 1060033 http://www.medworm.com/index.php?rid=1060142&cid=t_112102_147_f&fid=35750&url=http%3A%2F%2Ffeeds.feedburner.com%2F%7Er%2FHealthCareVox%2F%7E3%2F192638470%2Fas_the_genetic_pandoras_box_op.html Earlier this week while conducting Sunday morning errands, I turned on my local NPR station and listened to an interview with the founders of 23andMe, a new “web-based service that helps you read and understand your DNA.”  In addition to the NPR feature, the company, co-founded by Linda Avery and Anne Wojcicki, has enjoyed a burst of positive media coverage, including a feature article in The New York Times.  I first learned about 23andMe while attending the Health 2.0 conference earlier this year, as Esther Dyson is a board member.  After reading a lengthy Wired Magazine article about the company, I was struck by the fact that while there is great excitement about new genetic technologies, there is also a lot of uncertainty.  For example, according to Wired... HealthCareVox blogs http://www.medworm.com/rss/comments.php?id=1060142 Thu, 29 Nov 2007 22:39:34 +0100 1060142 http://www.medworm.com/index.php?rid=1049017&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F11%2F26%2Fpersonalized-genetics-decode-me-or-not-decode-me%2F Discussions Following the Launch of deCODEme and 23andMe (The Genetic Genealogist) 23andme Party (How to Change the World) My Genome, Myself: Seeking Clues in DNA (The New York Times): Was this the first sign that I had inherited the arthritis that gnarled my paternal grandmother’s hard-working fingers? Logging onto my account at 23andMe, the start-up company that is now my genetic custodian, I typed my search into the “Genome Explorer” and hit return. I was, in essence, Googling my own DNA. I had spent hours every day doing just that as new studies linking bits of DNA to diseases and aspects of appearance, temperament and behavior came out on an almost daily basis. Stay tuned for tomorrow’s collection! (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1049017 Sun, 25 Nov 2007 23:04:57 +0100 1049017 http://www.medworm.com/index.php?rid=1045944&cid=t_112102_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2007%2F11%2F22%2F23andmes-animated-guides-to-genetics%2F The “hypest” topics of these days in the whole blogosphere are 23andMe and the rising of personalized genetics. Here are the animations created by 23andMe for their patients to help them with the basic concepts of genetics. What are genes? What are SNPs? Where do your genes come from? What is phenotype? Related articles: Personalized Genetics: It has officially begun! 23andMe: The Re-Review Navigenics, 23andMe and Helix Health: The Review (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1045944 Thu, 22 Nov 2007 20:25:10 +0100 1045944 http://www.medworm.com/index.php?rid=1040110&cid=t_112102_97_f&fid=35050&url=http%3A%2F%2Ffeeds.feedburner.com%2F%7Er%2FPharmaGazette%2F%7E3%2F187756874%2Fyour_dna_profile_online_for_999.html Social networking is getting a little scientific starting on Monday when the Google funded company 23andMe launches. 23andMe will be an online genetic database stocked with data points from users who submit their DNA for profiling.The process is simple, sign up, receive the DNA saliva test and return it. Four to six weeks later 23andME will upload the results and allow you to learn about what makes you unique and what traits you share.Most likely, with the help of a professional DNA profiler, users will be able to learn about inherited traits, ancestry and possibly some of the risks they carry for disease and illness. 23andMe, which takes its name from the 23 pairs of chromosomes in a person's genome, will display results in a way that users can visualize and understand their personal ... PharmaGazette blogs http://www.medworm.com/rss/comments.php?id=1040110 Tue, 20 Nov 2007 15:00:16 +0100 1040110 http://www.medworm.com/index.php?rid=1034608&cid=t_112102_132_f&fid=35006&url=http%3A%2F%2Fnsaunders.wordpress.com%2F2007%2F11%2F18%2Ffrom-hype-to-reality-just-like-that%2F If you’ve been wondering whether personalised genomics startup 23andMe were for real, the wait is over. Details of their service are now available. Simply pay USD 999, spit in a tube and mail it to them (in the US only so far) and they promise a personal web-based genome browser with information about disease susceptibility, ancestry and (if your relatives join in), genealogy. The technology used is SNP genotyping - basically DNA is amplified from your sample and hybridised to an Illumina array, generating ~ 600 000 data points. All the details are available here. Some reactions (first 2 articles by people who have trialled the service): Welcome to the Age of Genomics at Wired Magazine My Genome, Myself: Seeking Clues in DNA - NYT article Expect frequent posts from Pimm - Partial im... What You're Doing Is Rather Desperate blogs http://www.medworm.com/rss/comments.php?id=1034608 Sun, 18 Nov 2007 08:19:52 +0100 1034608 http://www.medworm.com/index.php?rid=965927&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F10%2Ftake-antibiotic-lose-your-hearing.html Before I jump into the headlines I want to make mention of a few things. First, you know that there is something to these warnings I give about DTC testing when "in the Oct. 19 issue of Science, Bolnick and 13 researchers from universities across the nation call upon the scientific community to better educate the public about the limitations of the tests, and urge consumers to approach the tests with caution." But here's the kicker. This Article.....It has nothing to do with disease testing. The buyer beware editorial is entitled "The Science and Business of Genetic Ancestry Testing"Did you know that close to half a million people have taken ancestry testing. With 23 and Me lauching soon, I am certain that number will double in a year. The problems with these tests are the same that come a... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=965927 Sun, 21 Oct 2007 00:03:00 +0100 965927 http://www.medworm.com/index.php?rid=915411&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F09%2Fabout-helix-health.html Well, I have been getting alot of questions regarding our personalized medical practice on Park Avenue in New York City. I have been reluctant to tell everyone, but I figure that I might as well let everyone in on our "secret"My philosophy is the power of genomics should empower patients and providers. Together as a team we can prevent some horrible diseases and avoid some horrible adverse drug reactions. How do we do this? We take the skills from a multidisciplinary team and identify risk. We feel that the most powerful genomic tool out there is family history (Sorry Hsien). This has been validated over and over again in epidemiological studies. In fact when Mike Leavitt indicate in his foreward of his Personalized Health Care report"One part of the foundation for such a change is our rap... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=915411 Sun, 30 Sep 2007 23:03:00 +0100 915411 http://www.medworm.com/index.php?rid=906258&cid=t_112102_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F09%2Fcan-you-fix-typos.html The Sherpa would like to thank all of the readers who have tolerated the foray into mobile blogging that I have undertaken. I have had a few posts which have been hard to read as well as full of typos. Lately given my schedule I have had little time to revise these. I will take more time from now on I promise. Now Back to some interesting stuff!!! Recently in The Journal of the American Medical Association a study was published linking Coronary Artery Disease and Colorectal Cancer. Why am I, a gene guy, posting this study? Several reasons, but first let me talk about the study. Patients in Hong Kong were recruited for screening colonoscopy after cardiac catheterization (a procedure where they look for disease in your heart blood vessels.)Right there I think I several confounders. Aspirin c... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=906258 Wed, 26 Sep 2007 14:54:00 +0100 906258