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 'decode'. Sat, 03 Sep 2011 02:49:49 +0100 http://www.medworm.com/index.php?rid=4275541&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2010%2F12%2Fgenetic-test-may-refine-psa-or-it-may.html I am going to read this article for the seventh time and get back to you this week. In case you missed it, the PR Firm hired by DeCode pumped out a presser (press release), which I refuse to link to directly.....which essentially said "Analysis of Four SNPs, in Tandem With Genetic Risk Factors Detected by the deCODE ProstateCancer(TM) Test, Yields Substantial Improvement in Efficacy of PSA Screening"OK, 4 SNPs tells us whose PSA value is a bad 2.8 vs. good 5.8?Or at least that's what the Kari S. tells us"This is straighforward genetics with direct clinical utility." -Kari S. (Yes they rushed the release out with the misspelling of "straightforward")Ok, so tell me, how has this straightforward genetic test performed in a prospective analysis?What do you mean you haven't done that yet? So ho... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=4275541 Tue, 21 Dec 2010 13:26:00 +0100 4275541 http://www.medworm.com/index.php?rid=2469808&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F06%2Fconsumer-genomics-spin.html Thank God for Dan Vorhaus AKA @GenomicsLawyer on Twitter and a nice wrap up by Emily Singer But like a groupie believing everything one reads, I want to caution those who attend that conference.I heard major exaggerations and one might even say misstatements from the people presenting.......The biggest one upset me. I am a fan of Jeff Gulcher's. I think he is a great guy. And his 1 in 100,000 story about finding aggressive prostate ca because of his SNP risk is very real. But, he claimed something which had been proven incorrect.It had been proven incorrect months ago...... Maybe he did what DTC does best.....they imply things...... Jeff implied that their SNPs for CVD actually reclassify women's risk......In order to prove that he would need a cohort and he would have to control for all o... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2469808 Wed, 10 Jun 2009 11:38:00 +0100 2469808 http://www.medworm.com/index.php?rid=2260090&cid=t_126578_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=2074965&cid=t_126578_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=2067894&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F12%2Fsherpas-batting-average-for-2008.html I make some pretty outlandish predictions on this blog, including Francis Collins will become director of the NIH.....I am not afraid to be wrong. If I see a trend or a problem, I call it. What has gotten people's attention is that I tend to be right more often than I am wrong....at least for now.....I start out every year with some of these predictions, so I figure, why not look at the one's I made last year in 2008As I looked into my magic 8-ball/Complete Genomics Scanner. Which came true? Here are the predictions:1. Jim Watson will die.Well, only a few base pairs off on this one. The legend Victor McKusick did pass, God rest his soul.....Damn that 10x coverage.2. Mark Cuban would buy the rights to 23andMe's genome database.....I knew he would do something dastardly.....only it was not g... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2067894 Sat, 27 Dec 2008 19:51:00 +0100 2067894 http://www.medworm.com/index.php?rid=2061531&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F12%2Fwe-have-no-clue-what-it-really.html The scene, a roundtable of geneticists reviewing a case.Geneticist 1: Well, some one (Non geneticist) astutely ordered genetic testing for condition X before we saw them. When we saw them we ordered a Chromosomal Micro Array (CMA) and a karyotype....Geneticist 2: Well, did you ate least think of condition X?Geneticist 1: Not really, it was pretty atypical for condition X so we thought we might find something with a CMA. Geneticist 3: You'll certainly find things with a CMA. Now what the hell you will do with those rare deletions and duplication is another topic.Geneticist 4 and Training Geneticist 5: "Chuckle, Chuckle"Geneticist 1: Well, while we were waiting for the CMA, we were notified by the patient's family, they have condition X....Geneticist 2: Wow, I would have thought it was Condi... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2061531 Wed, 24 Dec 2008 11:17:00 +0100 2061531 http://www.medworm.com/index.php?rid=2040395&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F12%2Fraiding-medical-commons-pirates-life.html I just got back from Disney World the other day.....What a great trip.....my take is that if you keep believing and work hard enough your dream will come true....or at least Disney wants you to think that's true.....But I have a little problem......how can anyone believe without some evidence?....You can, but then it is not belief, it then becomes faith. Faith is belief with the absence of proof.....Unfortunately, that is how alot of blind individuals see personalized medicine....Too bad they are dead wrong. There is proof. For Pharmacogenomics all one has to do is scan the pharmacology literature.....but that's tough for scientists to do, even tougher for doctors, and toughest for genetic counselors...but it exists.....just take a look at the nearly 4000 papers published on CYP 2D6....Unf... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2040395 Tue, 16 Dec 2008 11:10:00 +0100 2040395 http://www.medworm.com/index.php?rid=1939661&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F11%2Fgenetic-test-or-family-history-which.html Conclusion:Positive family history of disease generated greater concern about parents’ own risk of inheriteddisease than did genetic test results.The Sherpa's Conclusion? People don't know what the hell they are doing when analyzing genetic risk. Nor do they know what the hell they are doing analyzing multifactorial disease risk in pedigrees....So I ask you....."Should we expect them to?" Isn't this the exact reason why we have geneticists and genetic counselors? Our job is to interpret family histories and genetic test results....in the doctors' case they interpret full medical history, perform physical examination and review of systems and evaluate other lab values oh, and medication history too.......Why should we expect patients to know or understand these concepts? Oh, I know why...... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1939661 Wed, 05 Nov 2008 17:12:00 +0100 1939661 http://www.medworm.com/index.php?rid=1930395&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F11%2Fdaniel-ballon-off-course-with-dtc.html I read an interesting article in the SF Chronicle today. It was entitled State off course on 'personal genomics' Authored by Dr. Daniel Ballon PhD...He raises some interesting points that I would like to highlight.Why would a state that regards itself as progressive and high-tech act to censor what we can know about ourselves? Though regulators may shut down unscrupulous firms, the services offered by Navigenics and 23andMe meet the highest standards of accuracy, validity and reliability. The laboratories employed by both companies are fully licensed and trusted by researchers around the world.First off....it didn't start that way with 23andMe.....Also, I just found out they came to Yale in '06 looking to database people and their samples.......hmmmmm California is progressive, but it is s... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1930395 Tue, 04 Nov 2008 10:25:00 +0100 1930395 http://www.medworm.com/index.php?rid=1873185&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F10%2Fdecode-versus-arthur-caplan-phd.html This study isolated 10 SNPs and only 2 SNPs replicated, I don't see the unreplicated ones in the paper. Importantly, this SNP did not replicate perfectly in the Swedes.... The SNP varied widely between ethnicities in the Multi-Ethnic Cohort in the US.......They observed no interaction between the 2 SNPs that replicated in Caucasians.....The effect seems that it could be recessive.....The study even acknowledges that this was a limited effort in finding risk SNPs....."However as the relative risks remain low, they (these SNPs) can only account for a small fraction of the familial clustering of this disease.2. rs4415084 guess what, the same thing happened with this SNP. Only one article, by guess who? deCode. This time in the Brief Communications of Nature Genetics......I look forward to the... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1873185 Mon, 13 Oct 2008 13:18:00 +0100 1873185 http://www.medworm.com/index.php?rid=1868564&cid=t_126578_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=1809929&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F09%2Flrrk2-and-parkinson-disease.html In this study, the Odds Ratio for developing PD in Ashkenazi patients with the LRRK2 G2019S mutation was 5.7 (CI 2.8 to 11.7). It is increases when you match age and sex to 8.6. Which has us thinking perhaps this is a sex effect? Not that sex, you perv!What is the percent of unaffected carriers in the general population of Ashkenazi? 2.2%That is a scary stat for my Jewish friends. That means this mutation is not nearly as common in the unaffected Ashkenazi Jewish population. This should be only interpreted for this Ethnicity! Not for Europeans or for Americans who do not have Ashkenazi ancestry!!It was crazy that none of the other mutations in LRRK2 were detected in this Ashkenazi cohort. That certainly speaks for a founder effect!! Similar to the founder mutations in BRCA1/2In dissecting ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1809929 Fri, 19 Sep 2008 12:28:00 +0100 1809929 http://www.medworm.com/index.php?rid=1616418&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F07%2Fnew-gene-in-atrial-fibrillation.html Did anyone see the New England Journal of Medicine? They published an article on a new gene involved in atrial fibrillation. Don't know what A-Fib is? You have 4 Chambers in your heart.....the top 2 are called atria.....Atrial fibrillation can put you at risk for heart failure, heart attack and stroke.The last of these is the most ominous. This is one of the major reasons people take Warfarin. Which BTW, can have up to 45% of your metabolism tested for by genetic analysis of CYP 2C9 and VKORC1....And recent studies support its use.You can get your testing through DNADirect......even if your physician says there is no reason to test for it(They are dead wrong).....Some physician with the company will order it.....The question is, "Whose responsibility is it to tell results to the doctor who... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1616418 Fri, 11 Jul 2008 00:53:00 +0100 1616418 http://www.medworm.com/index.php?rid=1596812&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F07%2Fyou-know-its-bad.html You know you are in for a grilling when the SACGHS says......"While we laud you for coming to participate in the conversation, part of that participation means that you may not like what you hear(More or less quoted from the webcast)"Then in an "Interesting" Move.......They ask "Would you be willing to sacrifice your bottom line to offer these services at say 100 USD?"Wha???? This is such a crazy question.....This Assumes that the data they are presenting is valid, actionable and worthwhile....... All of which.....are debatable...AND that the public would want such services....What am I talking about? I am talking about the opening of the 30 minute interrogation that was the end of the SACGHS meetingThey even asked the question "Do you have an IRB for all this 'research?'"The response........ Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1596812 Tue, 08 Jul 2008 19:07:00 +0100 1596812 http://www.medworm.com/index.php?rid=1526762&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F06%2Fkicking.html Whoah! I never thought that my blog would generate such response! I received over 100 emails today. Guess what. In a near 50/50 split they were pro or anti regulation. Some were so nasty and hate filled I began to question why I was even blogging about this. Luckily, none threatened my pets or family! They even asked me whose side I was on. I think I have been pretty clear on this one. I am on the side of safe and effective personalized medicine. That's the only side to be on. I am FOR the Genomic Medicine revolution. I am against anything that will hinder its' development. Some of these fly by night companies have been doing just that for years now!So I must sit back and look over the landscape. I knew this is where we were headed. Maybe we need a refresher course in history to understand... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1526762 Wed, 18 Jun 2008 00:09:00 +0100 1526762 http://www.medworm.com/index.php?rid=1485017&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F06%2Fken-and-senate.html "GINA is a laudable gain, but it is only half of the regulatory reform needed. We need to turn to genetic testing itself, which, surprisingly, has escaped comprehensive federal oversight. One of the cited needs for GINA has been the explosion of genetic testing by direct-to-consumer for-profit companies. Just last month, one testing company set up a storefront in New York to hawk its wares. Many physicians and genetic counselors feel that such direct-to-consumer marketing of genomic research information is premature at best, and dangerous at worst.""In response to a recommendation from an advisory panel to the secretary of Health and Human Services, the Food and Drug Administration, the Federal Trade Commission and the Centers for Disease Control and Prevention issued a joint warning to co... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1485017 Mon, 02 Jun 2008 01:04:00 +0100 1485017 http://www.medworm.com/index.php?rid=1478208&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fmind-your-ps-and-qs.html In another Hairbrained "We're not doing medicine" scheme I point your attention towardsQ-TraitFrom the siteWho shops for genetic tests?Genetic tests are not just for people with concern about disease or fighting crime on TV.These are people who have used QTrait: Families with history of allergies.Women who learned about their future pregnancies.Grandparents wishing to buy DNA tests for grandchildren. QTrait offers over 40 genetic tests. Mix and match tests to suit your needs.(Great....... just like pick and mix candy!!!!)Pregnancy & ChildbirthWe offer genetic tests to determine your propensity for:Codeine metabolism (for men AND women)High or low colostrum production (for women)Risk of preeclampsia (women only)Preterm birth (for men AND women) All 4 tests: $249Nutrition & Allergies... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1478208 Thu, 29 May 2008 18:23:00 +0100 1478208 http://www.medworm.com/index.php?rid=1439998&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fepi-genomic-canary.html So many people talk about guniea pigs as the research subject. I think this is a disservice for the pigs. Personally I think the Shaft Canary is a much better analogy. You see, the subtle changes from the human guinea pigs may not make big headlines or get the public to listen....But, the canary in the shaft always makes big press.If you don't know what I am talking about, let me explain. One of coal miners earliest and continuous problems was carbon monoxide. It can kill fairly quickly. But way back when, there were no gas detectors.....we had a vey limited ability to identify the dangerous gas. So what did they do? They carried a surrogate into the mine...The canary was a pretty easy to read detector. If the bird died, then you should leave the mine shaft. With our ever expanding set of ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1439998 Tue, 13 May 2008 13:51:00 +0100 1439998 http://www.medworm.com/index.php?rid=1437085&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fstuck-at-ritz.html I just received my itinerary for the Beyond Genome Conference in San Francisco? What's this conference? Well, in case you missed it.... The conference is the biggest organization of stakeholders and speakers of Genomic Technologies, Genomic Medicine and Policy Wonks. There are 4 themes which the conference is organized around. 1) Applying Sustems Biology 2)RNA Interference 3) Personal Medicine 4) Targeted Gene Therapy. It is a must attend conference. I will be speaking for approximately 20 minutes on Patient Centered Genomic Care. I will be bookended by Kari Steffanson and 23andMe.... The lead off is Misha Angrist of PGP fame and GenomeBoy distinction.That's not why I am writing. I am writing to tell you that if you want a room in San Fran from the 9th to the 12th you can forget about it. ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1437085 Mon, 12 May 2008 14:43:00 +0100 1437085 http://www.medworm.com/index.php?rid=1423653&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F05%2Fosteoporosis-and-gene-tests.html Osteoporosis, or porous bone, is a disease characterized by low bone mass and structural deterioration of bone tissue, leading to bone fragility and an increased susceptibility to fractures, especially of the hip, spine and wrist, although any bone can be affected.In simpler terms, osteoporosis is a condition in which the bones become weak and can break from a minor fall or, in serious cases, from a simple action such as a sneeze.About 85-90% of adult bone mass is acquired by age 18 in girls and 20 in boys. Building strong bones during childhood and adolescence can help to preventosteoporosis later in life.In the U.S. today, 10 million individuals are estimated to already have the disease and almost 34 million more are estimated to have low bone mass, placing them at increased risk for ost... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1423653 Tue, 06 May 2008 13:16:00 +0100 1423653 http://www.medworm.com/index.php?rid=1419316&cid=t_126578_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F283201430%2F   Osteoporosis  (Image source: www.soylabs.com)  An extensive genome-wide search has been undertaken to find the genes linked to osteoporosis and fracture. Five regions of interest have been identified that appear to warrant further scientific investigation. The Garvan Institute for Medical Research collaborated with the Icelandic genetics company, deCode, in a project that looked at 1500 women from Garvan’s Dubbo Osteoporosis Epidemiology Study as well as more than 12,000 women from Iceland and Denmark. The collaborative study examined more than 300,000 such markers and found 12 that were linked to bone mineral density and 6 linked to fragility fractures. Some of these SNPs are close to genes that are already known to be associated with osteoporosis. The next step will be identi... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1419316 Sun, 04 May 2008 09:18:35 +0100 1419316 http://www.medworm.com/index.php?rid=1349624&cid=t_126578_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F263545811%2F Icelandic company deCode Genetics has announced it has signed a Letter of Intent to offer its genetic testing products to US Preventative Medicine customers. US Preventative Medicine is a Dallas based company. The company has developed a suite of prevention, early detection and chronic condition management products and services that improve health outcomes while reducing health care costs.  It’s products are as follows: “The signing of the letter of intent with DeCode is significant because we will be the first entity in the US and internationally to offer a full continuum of geographically dispersed, comprehensive solutions for personalized medicine,” Christopher Fey, chairman and CEO of US Preventive Medicine, said in a statement. Elaine Warburton www.geneticsandhealth.com Ta... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1349624 Thu, 03 Apr 2008 20:24:25 +0100 1349624 http://www.medworm.com/index.php?rid=1311105&cid=t_126578_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=1286654&cid=t_126578_107_f&fid=36585&url=http%3A%2F%2Ffeeds.feedburner.com%2F%7Er%2FHighlightHEALTH%2F%7E3%2F247573921%2F Conclusion Thanks to everyone that contributed articles — it’s been a pleasure to host this months edition of the Cancer Research Carnival. Be sure to take a moment and let your fellow bloggers know this issue is available so that everyone’s hard work can be appreciated and enjoyed by all. You can find more information about the carnival as well as the hosting schedule and past editions at the Cancer Research Blog Carnival. References Cancer Facts & Figures 2008. American Cancer Society. Atlanta, Ga. 2008. Report Says Half a Million Cancer Deaths Have Been Averted Since Death Rate Drop. American Cancer Society Press Release. 2008 Feb 20. Vickers A. Cancer Data? Sorry, Can’t Have It. The New York Times. 2008 Jan 22. Apel et al. Blocked autophagy sensitizes resis... Highlight HEALTH blogs http://www.medworm.com/rss/comments.php?id=1286654 Fri, 07 Mar 2008 20:47:38 +0100 1286654 http://www.medworm.com/index.php?rid=1048565&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F11%2Fminding-shop.html With all of this hullabaloo about genome sequencing companies and what they might do with your genome, including possibly selling the "de-identified" data to pharma companies. A great business plan, but NOT personalized medicine. I actually received 3 emails pointing out the same idea. I do know a friend of mine who sold his plasmapheresis company to the British Government, not because of the need for products in the UK, but because Bayer was this company's biggest customer.So the whole selling data/product to pharma is a plan which can make tons of money. Which could be the reason why the"genome" service is so cheap. Last time I checked, the best bet at the craps table is the pass line, provided you are on a come out roll. It's the proverbial hook.With that being said, I want to come back... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1048565 Sat, 24 Nov 2007 23:43:00 +0100 1048565 http://www.medworm.com/index.php?rid=1034912&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F11%2Ffrom-wired-magazine-quote-from-anne.html From Wired Magazine, a quote from Anne Wojcicki regarding her Gene Journal and risk calculator"A lot of this is unknown. It's totally experimental," Wojcicki told me a few weeks before the science board meeting. "No one has looked at all eight diabetes markers together. They've all been identified individually, but they don't know exactly how they work together. So we've tried to make that clear."To crunch these numbers and determine one person's risk factor, 23andMe has opted to multiply the risks together. But a competing school of thought argues for adding the risk from SNP to SNP. The two approaches can result in wildly different tallies.Welcome to the first Google driven experiment in genetics, paid for by the customers......Unfortunately that poor author from the NYT demonstrated her... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1034912 Sun, 18 Nov 2007 15:15:00 +0100 1034912 http://www.medworm.com/index.php?rid=1034688&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F11%2Fnot-with-bangthe-death-of-personalized.html Today I plan to discuss where this magical field of personalized medicine is headed. A few things have changed over the week, and I think that this may change what I was originally going to discuss. But all in all the likely paths of personalized medicine could be up to 8-fold. Some are less likely and are therefore not discussed here. In order to really understand personalized medicine's future we must know 4 truths.1. Genotyping is getting cheaper and cheaper. Less than a penny a base pair. So in turn genetic testing should get cheaper and cheaper. This is the idea of a 1000 USD whole-genome. Unfortunately some tests still remain in the thousands of dollars. Therefore, I assume (unless these companies are paying their workers millions), that there is some significant money being made her... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1034688 Sun, 18 Nov 2007 00:45:00 +0100 1034688 http://www.medworm.com/index.php?rid=1034364&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F11%2Fcottage-industry-cottage-cheese-is-more.html Today in the NYT an article pops up which slightly disturbed me. The reporter had her genome sequenced by 23 and Me. What turns out is that indeed he is using his information for health. Surprise....when everyone was saying...."It looks as if 23 and me will only be doing ancestry analysis" WRONG.So why am I disturbed? Genomic Voyeurism is on. Without the standard interpretation and guidance....people are soon to be hopping on the genome train. What is not explained is the fact that most of these tests are mere party tricks. Data to support their use in healthcare and prevention is fishy at best. Just like the snake-oil salesman, we have these companies peddling a peek into the future.Even better I have thought of Miss Cleo as analogous to these companies.an example from the NYT"For instanc... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=1034364 Sat, 17 Nov 2007 18:47:00 +0100 1034364 http://www.medworm.com/index.php?rid=781702&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F08%2Ftcf7l2-strikes-again-this-time-its.html The Latest edition of Mendel's Garden is up at Scienceroll. If you haven't seen it, the Gregorian Rap All-Stars video is a must see! It's official. I can say without any doubt that the gene TCF7L2 is somehow implicated in diabetes. Another whole genome association study was performed and results were published in the American Journal of Human Genetics. The study which performed because there only exist a handful of genes that have been implicated in the genetics of diabetes. These include PPAR gamma, TCF7L2, KCNJ11, CPN10, FTO. And because GWAS is hot now. They selected 4 populations, all Caucasian. 200 Finns with diabetes and 200 without, similar numbers of Ashkenazi Jews, 100 soccer hooligans from Manchester and 99 affected Brits, as well as 100 Germans with diabetes and another 100 with... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=781702 Sun, 05 Aug 2007 23:43:00 +0100 781702 http://www.medworm.com/index.php?rid=745637&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F07%2Frestless-legs-and-decode.html In this study the research team conducted genome-wide scans of nearly 1,000 Icelanders and 188 Americans. A new chip technology was applied along with genome wide association methods. This approach allowed Drs. Rye and Stefansson to probe more than 300,000 small regions (single nucleotides) distributed across the entire genome for differences more common to RLS sufferers as compared to population-based controls.The expedition was to find a gene linked to Restless Leg Syndrome. Sleep is often interrupted in these patients and can lead to a terrible lifestyle. There is a high prevalence of this disease in North America and Europe. Seemingly a Caucasian disease it was natural to look for this linkage in the Icelanders.Here's what my Head Genomic Counselor had to say:"They found an intronic SN... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=745637 Thu, 19 Jul 2007 15:18:00 +0100 745637 http://www.medworm.com/index.php?rid=716853&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F07%2Fdiabetes-risk-model-without-help-from.html This study which was published in the journal Archives of Internal Medicine(a very respected academic journal for primary care physicians) showed that Parental diabetes, obesity, and a low good cholesterol were better predictors of diabetes risk than complicated algorithms and complex clinical models.The incidence of type 2 diabetes is skyrocketing and predicting onset can help us guide interventions. In the public health schema it can have tremendous effects when anticipation guides development of preventative strategies. This is the case with heart disease and cholesterol lowering modifications.Parental history of diabetes, obesity, HDL(good cholesterol) less than 40 predict diabetes onset at a greater rate than ANY GENETIC TEST OUT THERE!Most importantly, your insurance pays for the HDL... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=716853 Thu, 05 Jul 2007 21:26:00 +0100 716853 http://www.medworm.com/index.php?rid=714810&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F07%2Fsherpa-posts-total-100.html No I am not nearly as prolific as some of my contemporaries, but hey I have only been at this since March ;)I hit the milestone of my 100th post today. In my championing, flaming, arguing, almost getting sued (Thanks San Fran!), and just plain out bashing quacks I have discovered some amazing people and some amazing sites. The following is a running tally of blogs I love. Some genetic, Some medicine, Some not so much. Scienceroll by Bertalan Mesko soon to be MDBad Science by Ben Goldacre MDEye on DNA by Hsien Lei PhDHighlight Health by Walter Jessen PhDRevolution Health's CMO Jeff Gruen MDThe DNA Network and its littany of great blogs!Mashable the blog for social networksBuddhist thought by James RayThe Entrepreneurial MD Great Pics from around the World at CosmosThe latest and greatest at... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=714810 Wed, 04 Jul 2007 12:45:00 +0100 714810 http://www.medworm.com/index.php?rid=687106&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F06%2Fforbes-and-genetics-part-4.html This study was published before the Forbes article and they easily could have mentioned all of these genes in one part. But they did not. Why? I think it has to do with the ties to deCODE. But that's just the conspiracy theorist in me.I have an issue with this quote-"It is the strongest diabetes-promoting gene yet discovered."Wow!! In what population? There are other genes in populations not northern European that have higher risk. This statement is almost false!!! Frankly I think we should take a point away from Forbes for this. But I won't.Sherpa 4 .... Forbes 3The Sherpa Says: I love how the media mixes true things into their agenda. It is a sneaky way to appear factual and credible. If they would have to submit these things to peer review before publishing, then we would have a differe... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=687106 Mon, 18 Jun 2007 13:24:00 +0100 687106 http://www.medworm.com/index.php?rid=687107&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F06%2Fforbes-and-genetic-part-3the-genes.html So after that long and drawn out search I am most interested with the genes that these guys chose and why they chose them. I am surprised this article wouldn't have been written by a scientist or maybe a clinician. They would probably be in a better position to say how these gene polymorphisms/tests will perform.Complement Factor H LOC387715; In people with bad copies of these genes, chances of macular degeneration progressing from an early, mild form to a severe one increase 10-fold to almost 50%, according to a study in the Journal of the American Medical Association. Ok so this is true. There is another gene HTRA1 that should have been included. Together these two gene polymorphisms increase your risk of AMD by 40 fold! Also there should have been some mention of the fact that there is ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=687107 Sat, 16 Jun 2007 23:16:00 +0100 687107 http://www.medworm.com/index.php?rid=687110&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F06%2Fforbes-and-genetics.html Way back in 2004 Forbes published an excellent article on inflammation and heart disease. That article introduced me to deCODE. In fact, I was so impressed with their model I began to read about their founder voraciously. More importantly I began to see the wonderful role the media has to play in this new revolution. They can influence the demand just as much as Myriad spending 1 million in Denver to market to consumers. Granted these publications don't have the Oprah Effect (Did I mention that Dr Oz is going to meet the Sherpa?), but they do have some teeth!But I was also distressed when Forbes published an article that I had a tough time swallowing. In fact it brought me to tears. How can this publication blindly validate and promote these tests without any medical guidance, or suspect g... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=687110 Fri, 15 Jun 2007 01:29:00 +0100 687110 http://www.medworm.com/index.php?rid=687116&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F06%2Fdr-collins-reports-from-front-lines.html In the second of my 3 maybe 4 part post I will detail Dr Collins' report from the Front Lines of the Revolution!First some notable quotes"2007 is going to be a landmark year in Genomics and Medicine""We all have ticking timebombs in our genome, you could guess most of them from family history.........But not all of them""We shall have the major genetic risk factors for common diseases in 2-3 years or less"Without further ado I will break his talk down into sections. Dr Collins', feel free to correct anything in this."Notes From the Front Lines"DNA sequencing is undergoing a revolution. I almost felt that he had been reading The Sherpa prior to giving this lecture. I had commented on 454 recently. On powerpoint he showed the technology behind 454 and Illumina. he did not comment on nanopore... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=687116 Tue, 05 Jun 2007 15:15:00 +0100 687116 http://www.medworm.com/index.php?rid=687128&cid=t_126578_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2007%2F05%2Fpersonalized-medicine-and-prostate.html This study shows the heritability of prostate cancer, and more importantly aggressive prostate cancer. Perhaps by identifying those with the marker, then we can go after the tumor more aggressively as there are several ways to treat this Cancer based on "non-molecular" staging. (Source: Gene Sherpas: Personalized Medicine and You) Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=687128 Tue, 22 May 2007 11:34:00 +0100 687128 http://www.medworm.com/index.php?rid=547565&cid=t_126578_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F109481786%2F Knowing more about your risk of type 2 diabetes is just a keyboard click away at DNA Direct. Together with deCODE diagnostics, DNA Direct is now offering deCODE T2, a genetic test that examines the presence of the “T” allele of SNP rs7903146, located within the transcription factor 7-like 2 (TCF7L2) gene. Almost twice as many people with type 2 diabetes have two copies of the TCF7L2 gene variant. As far as I can tell, the SNP is not known to cause a functional change in the activity of the gene, but is associated with reduced insulin secretion. Kari Stefansson, CEO of deCODE: Understanding one’s risk of T2D is the first step toward enabling more effective prevention. The principal risk factors for T2D are well known - obesity, unhealthy diet and lack of exercise - and by addressi... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=547565 Tue, 17 Apr 2007 02:00:53 +0100 547565 http://www.medworm.com/index.php?rid=546288&cid=t_126578_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F109481786%2F Knowing more about your risk of type 2 diabetes is just a keyboard click away at DNA Direct. Together with deCODE diagnostics, DNA Direct is now offering deCODE T2, a genetic test that examines the presence of the “T” allele of SNP rs7903146, located within the transcription factor 7-like 2 (TCF7L2) gene. Almost twice as many people with type 2 diabetes have two copies of the TCF7L2 gene variant. As far as I can tell, the SNP is not known to cause a functional change in the activity of the gene, but is associated with reduced insulin secretion. Kari Stefansson, CEO of deCODE: Understanding one’s risk of T2D is the first step toward enabling more effective prevention. The principal risk factors for T2D are well known - obesity, unhealthy diet and lack of exercise - and by addressi... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=546288 Mon, 16 Apr 2007 15:34:57 +0100 546288