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 'genetic testing'. Sat, 03 Sep 2011 01:52:29 +0100 http://www.medworm.com/index.php?rid=5140181&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2011%2F08%2F18%2Fu-k-researchers-launch-clinical-trial-of-mercaptopurine-6-mp-in-women-with-hereditary-breast-and-ovarian-cancer%2F A Cancer Research UK-funded clinical trial of a new drug for patients with advanced breast or ovarian cancer due to inherited BRCA gene mutations has been launched at the Experimental Cancer Medicine Centre at the University of Oxford. A Cancer Research UK-funded trial of a new drug for patients with advanced breast or ovarian cancer [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=5140181 Thu, 18 Aug 2011 21:07:56 +0100 5140181 http://www.medworm.com/index.php?rid=5130962&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F1055-Early-sex-determination-test-turns-an-embryo-into-a-boy-or-girl.html No longer just an embryo, but a boy or girl.Photo: Westside Pregnancy ClinicThe Journal of the American Medical Association has reported that early prenatal sex determination tests are accurate.  These tests are non-invasive looking for minute pieces of fetal DNA in the mother's blood.  They report that the sex determination is 95 to 99% accurate as early as 5 to 7 weeks gestation!  This procedure will likely replace amniocentesis for all kinds of prenatal genetic testing, not just for sex determination, which greatly lowers the risk for the growing fetus. At the news, there was a collective groan from both sides of the abortion debate.  Prolifers and prochoicers alike realize that this test will make sex selective abortions much easier.  I am encouraged to see tha... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=5130962 Sat, 13 Aug 2011 17:14:12 +0100 5130962 http://www.medworm.com/index.php?rid=5107829&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2011%2F08%2F07%2Finherited-mutations-in-rad51d-gene-confer-susceptibility-to-ovarian-cancer%2F Cancer Research UK-funded scientists have discovered that women who carry a faulty copy of a gene called RAD51D have almost a 1-in-11 chance of developing ovarian cancer. The finding that inherited mutations in the RAD51D gene confer susceptibility to ovarian cancer was reported in a study published online in Nature Genetics on August 7, 2011. Cancer [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=5107829 Mon, 08 Aug 2011 01:57:32 +0100 5107829 http://www.medworm.com/index.php?rid=5086441&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F1048-Court-Rules-that-DNA-Patentable-if-Removed-from-Your-Body.html For decades the U.S. Patent Office has been issuing patents for naturally occurring genes.  This affects you directly whether you know it or not.  Because a company legal "owns" a gene sequence, they control who is able to test or research that gene.  In the case of genetic testing, labs are limited on what genes they can offer tests for because of gene patents, which limits the choices they can offer patients. Labs that are allowed to test a patented gene pay royalties to the companies that own the genes which drives up the cost of the genetic test.  Many labs, like ones I have worked in, just chose not to offer the test at all.In the case of some genes like the breast cancer genes BRCA I and BRCA II, one company, Myriad, owns the gene and only Myriad offers ... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=5086441 Mon, 01 Aug 2011 16:54:44 +0100 5086441 http://www.medworm.com/index.php?rid=4934653&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F1029-State-supported-eugenics-in-France.html It has been estimated that 96% of fetuses with Down Syndrome in France are aborted.  Most of the cases are detected in older women whose physicians offer prenatal testing.  As in the United States, offering prenatal testing for Downs in France is not a government mandated practice for obstetricians.  The American Congress of Obstetricians and Gynecologists simply recommends that doctors offer it.  Lawmakers in France are considering making it mandatory for physicians to offer prenatal testing for Down Syndrome.Why is this significant?  Because mandating that doctors offer prenatal testing completely changes the game.  It is not that the prenatal testing is inherently evil.  In most cases it is simply a way to get more information about the life growing inside the womb.  It is what ... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=4934653 Tue, 14 Jun 2011 18:36:41 +0100 4934653 http://www.medworm.com/index.php?rid=4911737&cid=t_103614_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=4902644&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2011%2F06%2F04%2F2011-asco-women-with-brca-gene-mutations-can-take-hormone-replacement-therapy-safely-after-ovary-removal%2F Women with the BRCA1 or BRCA2 gene mutations, which are linked to a very high risk of breast and ovarian cancer, can safely take hormone-replacement therapy (HRT) to mitigate menopausal symptoms after surgical removal of their ovaries, according to new research from the Perelman School of Medicine at the University of Pennsylvania Women with the BRCA1 or BRCA2 gene mutations, which are linked [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=4902644 Sat, 04 Jun 2011 20:16:50 +0100 4902644 http://www.medworm.com/index.php?rid=4742592&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2011%2F04%2F22%2Fvisiting-direct-to-consumer-genetic-companies%2F When I had a free test at Navigenics and Pathway Genomics, I had a chance to visit the Navigenics HQ as well in San Francisco. Now Daniel MacArthur visited the 23andMe and Complete Genomics HQs. I was graciously received by Shirley Wu, who gave me the grand tour, and various members of the 23andMe science team (especially Nick Eriksson and Tom Do) then uncomplainingly put up with my questions for what must have seemed like hours. The visit reinforced my overall impression of the company: this is a group of very smart people working with an increasingly impressive customer data-set on some seriously interesting problems. Their recently announced discovery of two novel genetic regions associated with Parkinson’s disease (due for publication in the near future) is a taste of what’s to com... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=4742592 Fri, 22 Apr 2011 08:19:37 +0100 4742592 http://www.medworm.com/index.php?rid=4592642&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2011%2F03%2F15%2F2011-nccn-conference-new-treatment-options-lead-to-steady-progress-against-ovarian-cancer%2F Recommendations stemming from recent clinical trials highlight notable updates to the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines™) for Ovarian Cancer at the National Comprehensive Cancer Network® (NCCN®) 16th Annual Conference. Although finding effective screening tools remains a priority, new treatment options for women with ovarian cancer, such as the ones outlined in the [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=4592642 Wed, 16 Mar 2011 01:20:30 +0100 4592642 http://www.medworm.com/index.php?rid=4560519&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2011%2F03%2F07%2F2011-sgo-annual-meeting-ovarian-cancer-abstracts-selected-for-presentation%2F The March 2011 supplemental issue of Gynecologic Oncology sets forth the ovarian cancer and ovarian cancer-related medical abstracts selected by the Society of Gynecologic Oncologists for presentation at its 42nd Annual Meeting on Women’s Cancer™, which is being held in Orlando, Florida from March 6-9, 2011. The Society of Gynecologic Oncologists (SGO) is hosting its 42nd Annual [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=4560519 Tue, 08 Mar 2011 05:39:54 +0100 4560519 http://www.medworm.com/index.php?rid=4394661&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2011%2F01%2F25%2Fpsychological-effects-of-personal-genetic-testing%2F Direct-to-consumer genetic testing is becoming more and more apparent even though its clinical validity and utility are pretty questionable regarding medical decisions. Eric Topol and his team now studied over 2000 patients who had genomic tests (Navigenics) and reported if there was any changes in symptoms of anxiety, intake of dietary fat, and exercise behavior. The results are not surprising therefore they raise the question whether these tests can be used for anything at all. The study was published in NEJM. From a cohort of 3639 enrolled subjects, 2037 completed follow-up. Primary analyses showed no significant differences between baseline and follow-up in anxiety symptoms (P=0.80), dietary fat intake (P=0.89), or exercise behavior (P=0.61). Secondary analyses revealed that test-relat... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=4394661 Tue, 25 Jan 2011 14:41:15 +0100 4394661 http://www.medworm.com/index.php?rid=4386271&cid=t_103614_87_f&fid=39187&url=http%3A%2F%2Fgetbetterhealth.com%2Fthe-peddling-of-genetic-tests%2F2011.01.22 In a recent issue of the British Medical Journal (BMJ), journalist Ray Moynihan wrote: “Beware the fortune tellers peddling genetic tests.” (Subscription required for full access.) Excerpts: “For anyone concerned about the creeping medicalisation of life, the marketplace for genetic testing is surely one of the latest frontiers, where apparently harmless technology can help mutate healthy people into fearful patients, their personhood redefined by multiple genetic predispositions for disease and early death. … Again a tool that’s proved useful in the laboratory has escaped like a virus into the marketplace, incubated by entrepreneurs, lazy reporters, and the power of our collective dreams of technological salvation, this time in the form of personalised medici... Better Health blogs http://www.medworm.com/rss/comments.php?id=4386271 Sat, 22 Jan 2011 23:00:22 +0100 4386271 http://www.medworm.com/index.php?rid=4164524&cid=t_103614_87_f&fid=39187&url=http%3A%2F%2Fgetbetterhealth.com%2Ftalk-to-patients-before-running-tests%2F2010.11.14 The Associated Press ran a provocatively-titled piece recently, “Family health history: ‘best kept secret’ in care”, which noted how a geneticist at the Cleveland Clinic discovered that asking about family members and their history of breast, colon, or prostate cancer was better than simply doing genetic blood testing. Surprising? Hardly. This is what all medical students are taught. Talk to the patient. Get a detailed history and physical. Lab work and imaging studies are merely tools that can help support or refute a diagnosis. They provide a piece of the puzzle, but always must be considered in the full context of a patient. They alone do not provide the truth. (more…) *This blog post was originally published at Saving Money and Surviving the H... Better Health blogs http://www.medworm.com/rss/comments.php?id=4164524 Sun, 14 Nov 2010 15:00:00 +0100 4164524 http://www.medworm.com/index.php?rid=4159395&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F991-Where-the-Catholic-Church-and-Obamas-Department-of-Justice-Agree.html Is there an issue where the current federal administration and the Catholic Church agree?  Yes.  The granting of patents for naturally occurring human genes. Many people are not aware that about 25% of all human genes are patented.  This means that a company or university owns the genetic code that makes up that gene.  They own genes that you have and use in your body everyday.You may be surprised to find out that the patenting of your genes affects you directly. Because a company legal "owns" a gene sequence, they control who is able to test or research that gene.  In the case of genetic testing, labs are limited on what genes they can offer tests for because of gene patents, which limits the choices they can offer patients. Labs that are allowed to test a patented gene pay... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=4159395 Fri, 12 Nov 2010 16:50:55 +0100 4159395 http://www.medworm.com/index.php?rid=4023092&cid=t_103614_136_f&fid=36032&url=http%3A%2F%2Fwww.everydayhealth.com%2Fblog%2Flife-with-breast-cancer%2Freal-men-face-their-breast-cancer-risk%2F Breast Cancer Awareness Month always reminds me of my responsibility to promote awareness and early detection to my girlfriends and the women that I know. I seldom consider the possibility of breast cancer affecting the men in my life, although I should, because it is very real. My boys and their cousin (Sister’s son) are at risk for breast cancer for the same reason as my nieces — their mothers are carriers of the breast cancer gene. Breast cancer in men is rare, but it does happen, and there are men at risk who may never get tested. It generally occurs in older men (between the ages of 60 and 70), and it can be due to abnormal estrogen levels or a family genetic predisposition. Breast cancer can also develop in men who have been exposed to radiation. Male breast cancer also comes... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=4023092 Fri, 01 Oct 2010 19:48:09 +0100 4023092 http://www.medworm.com/index.php?rid=3976639&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F09%2F16%2Fpersonal-genomics-in-the-news%2F There are 4 articles focusing on personalized medicine I would like to share with you today. Personal Genotyping Course Progress Report At the Stanford School of Medicine’s Scope blog, Lia Steakley recounts student participation in the school’s summer elective course that offered the physicians-in-training the option to study their own genotype data. “Overall, 33 students in the class of 60 … opted for personal genotyping. Ten others analyzed their genetic background using commercial services before the class,” Steakley reports, adding that a Stanford task force will deliberate to determine whether to offer the course again. Our sister publication Genome Technology spoke with Stuart Kim, one of the course organizers, and professors at other medical schools who&#82... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3976639 Thu, 16 Sep 2010 15:58:51 +0100 3976639 http://www.medworm.com/index.php?rid=3938460&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F09%2F07%2Fpersonalized-genomics-in-the-news%2F I would like to share three papers, articles that focus on the personalized genomics market with you. Almost 3 years ago, I wrote about that FDA had suggested two genetic markers to be used to determine the minimal starting dose of Coumadin. Later, in a paper, Rosove et al. said that “The value and cost-effectiveness of genetic testing to reduce bleeding or thrombosis rates remain unknown.” Well, now it seems there is the answer. Patients who received a test of two genes connected to warfarin sensitivity were 28 percent less likely to be hospitalized for a bleeding episode or blood clot than those whose safe and effective warfarin dosing was determined by traditional trial and error method. Also researchers have provided the first published example of genome-scale RNA and DNA... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3938460 Tue, 07 Sep 2010 07:52:18 +0100 3938460 http://www.medworm.com/index.php?rid=3925055&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2010%2F09%2F01%2Fu-s-president-barack-obama-proclaims-september-2010-as-national-ovarian-cancer-awareness-month%2F Yesterday, U.S. President Barack Obama designated September 2010 as National Ovarian Cancer Awareness Month.  During National Ovarian Cancer Awareness Month, we honor all those lost to and living with ovarian cancer, and we renew our commitment to developing effective screening methods, improving treatments, and ultimately defeating this disease. The White House Office of the Press [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=3925055 Wed, 01 Sep 2010 15:36:36 +0100 3925055 http://www.medworm.com/index.php?rid=3921011&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F08%2F31%2Fpersonalized-genomics-on-slideshows%2F When preparing for this year’s Researchers’ Night (details below), I was trying to collect some information and updates about the consumer genomics market for my presentation and found great slideshows. Enjoy! If you thought that research was all about lab coats and Bunsen burners, think again. Like everyone else, researchers come from numerous backgrounds, have diverse interests and pursue a spectrum of hopes and dreams. One thing they all have in common is a passion for research – and they want to share it with you. The European Commission’s ‘Researchers in Europe’ (RIE) initiative allows citizens to get closer to our researchers and gives a face to European research. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3921011 Tue, 31 Aug 2010 19:42:35 +0100 3921011 http://www.medworm.com/index.php?rid=3891656&cid=t_103614_87_f&fid=34470&url=http%3A%2F%2Fwww.thehealthcareblog.com%2Fthe_health_care_blog%2F2010%2F08%2Fits-my-life-its-now-or-never.html By LISA SUENNEN You can walk into a pharmacy any day and buy a test kit to find out if you are ovulating so that you can undertake family planning activities. You can buy home testing kits to screen for... (Source: The Health Care Blog) The Health Care Blog blogs http://www.medworm.com/rss/comments.php?id=3891656 Sat, 21 Aug 2010 23:00:00 +0100 3891656 http://www.medworm.com/index.php?rid=3885345&cid=t_103614_87_f&fid=39187&url=http%3A%2F%2Fgetbetterhealth.com%2Fthe-dna-dilemma%2F2010.08.19 Mary Carmichael of Newsweek had a great series of articles focusing on direct-to-consumer genetic testing. An excerpt: I’ve been following DTC genetics since 2007, when wide scanning first became available to the public. Since then, a number of writers have gotten wide-scale genetic tests and expounded on the results. Indeed, I sometimes wonder if I’m the last science reporter on earth with virgin genes. (Technical virgin: My doctor gave me a cystic fibrosis carrier test when I was pregnant.) Initially, I put off getting a full-genome scan because I wasn’t sure how useful such a test would be. I had no particular reason to take one, save curiosity. I wouldn’t expect to find anything serious and potentially life-altering like the Huntington’s disease gene in my results, because ... Better Health blogs http://www.medworm.com/rss/comments.php?id=3885345 Thu, 19 Aug 2010 16:00:08 +0100 3885345 http://www.medworm.com/index.php?rid=3876833&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F08%2F17%2Fdna-dilemma-on-newsweek%2F Mary Carmichael at Newsweek had a great series of articles focusing on direct-to-consumer genetic testing. An excerpt: I’ve been following DTC genetics since 2007, when wide scanning first became available to the public. Since then, a number of writers have gotten wide-scale genetic tests and expounded on the results. Indeed, I sometimes wonder if I’m the last science reporter on earth with virgin genes. (Technical virgin: My doctor gave me a cystic fibrosis carrier test when I was pregnant.) Initially, I put off getting a full-genome scan because I wasn’t sure how useful such a test would be. I had no particular reason to take one, save curiosity. I wouldn’t expect to find anything serious and potentially life-altering like the Huntington’s disease gene in my results, because... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3876833 Tue, 17 Aug 2010 12:57:08 +0100 3876833 http://www.medworm.com/index.php?rid=3862193&cid=t_103614_150_f&fid=35777&url=http%3A%2F%2Ffeedproxy.google.com%2F%7Er%2FPharmalot%2F%7E3%2Fmn94xwkWAbU%2F Hello, everyone, nice to see you again. There is a cool and welcome breeze wafting across the Pharmalot corporate campus this morning. And so what better way to greet such inviting weather than with a steaming cup of stimulation? Please join us. Meanwhile, here are some tidbits from around your world. We hope your day is productive and pleasant, and do stay in touch… Indian Supplier Of Gelatin Capsules To Double Output (Bloomberg News) Former Sirtris Execs Sell Resveratol Anti-Aging Supplement Online (Xconomy) Medco And CVS Are Giving A Gene Test To Millions (Bloomberg News) Antibiotic Use Rises After Part D (MedPage Today) New Superbug From India Causes Alarm In The UK (PharmaTimes) FDA Panel Backs Epilepsy Drug From Glaxo And Valeant (Reuters) Sanofi And Genzyme In A Game Of Chicke... Pharmalot blogs http://www.medworm.com/rss/comments.php?id=3862193 Thu, 12 Aug 2010 12:07:49 +0100 3862193 http://www.medworm.com/index.php?rid=3858309&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F08%2F11%2Fhealth-2-0-news-centrifuge-for-labor-and-behind-healthcare-gov%2F Measuring Hospital Quality: The data presented is from The Joint Commission’s 2009 Annual Report on Quality and Safety Database of peer-reviewed articles related to the coverage of medicine on Wikipedia The Facts About Heart Disease through data visualization Centrifuge for Helping Women in Labor: An unbelievable patent How well can a screening test predict disease risk? At the moment the sensitivity and specificity of a lot of genetic tests for complex, polygenic disorders (for which we haven’t yet identified all the genetic variants that increase risk) are unlikely to match those of standard diagnostic or screening tests.  What’s likely is that the predictive capacity of these tests will improve as more variants are identified, and/or if additional non-genetic infor... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3858309 Wed, 11 Aug 2010 15:55:45 +0100 3858309 http://www.medworm.com/index.php?rid=3827020&cid=t_103614_87_f&fid=34470&url=http%3A%2F%2Fwww.thehealthcareblog.com%2Fthe_health_care_blog%2F2010%2F08%2Fshould-we-fear-genetic-testing.html By THOMAS GOETZ Though the prospect of learning about our DNA might seem wrapped in mystery and intrigue, genetic information is not so different from any other metrics we know about ourselves: Our age, our weight, our blood pressure. With... (Source: The Health Care Blog) The Health Care Blog blogs http://www.medworm.com/rss/comments.php?id=3827020 Wed, 04 Aug 2010 23:00:00 +0100 3827020 http://www.medworm.com/index.php?rid=3816657&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2010%2F08%2F03%2Flargest-study-matching-genomes-to-potential-anticancer-treatments-releases-initial-results%2F The largest study to correlate genetics with response to anticancer drugs released its first results on July 15. The researchers behind the study, based at Massachusetts General Hospital Cancer Center and the Wellcome Trust Sanger Institute, describe in this initial dataset the responses of 350 cancer samples (including ovarian cancer) to 18 anticancer therapeutics. U.K.–U.S. [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=3816657 Wed, 04 Aug 2010 03:43:59 +0100 3816657 http://www.medworm.com/index.php?rid=3813143&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F08%2F02%2Fnational-society-of-genetic-counselors-interview-with-elizabeth-kearney%2F Elizabeth Kearney, the President of the National Society of Genetic Counselors in the US, gave me an interview this weekend, and commented on how direct-to-consumer (DTC) genomic companies should provide their customers with genetic counseling, which is a crucial part in the whole process. As President of NSGC, Liz Kearney is responsible for leading the association and serving as the chief spokesperson. Liz is committed to promoting the many benefits genetic counselors bring to other healthcare professionals and patients.  Liz received her genetic counseling degree from the University of Michigan in 1996 and practiced in a variety of settings, including prenatal diagnosis centers, a general genetics department, and a diagnostic laboratory.  She also earned an MBA from Northwestern Uni... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3813143 Mon, 02 Aug 2010 16:25:48 +0100 3813143 http://www.medworm.com/index.php?rid=3805966&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F07%2F30%2Fpersonalized-genomics-dtc-companies-are-in-huge-trouble%2F Federal ‘Sting’ Slams Gene Tests (New York Times): Watch this video A sad day for personal genomics (Genetic Future): Today’s US Congress Committee on Energy and Commerce hearing into the direct-to-consumer genetic testing industry was a vicious affair. Representatives from testing companies 23andMe, Navigenics and Pathway faced a barrage of questions about the accuracy and utility of their tests, made all the worse by the fact that many of the Committee’s members seemed unable to distinguish between the more responsible companies in the field and the scammers and bottom-feeders. Consumer Genetics Needs More Transparency, Not Excessive Regulation: Daniel MacArthur and Daniel Vorhaus provide potential solutions. What If Your Genetics Defined Your Community? How I go... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3805966 Fri, 30 Jul 2010 11:36:35 +0100 3805966 http://www.medworm.com/index.php?rid=3790886&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2010%2F07%2F26%2Fyale-identifies-kras-gene-variant-in-ovarian-cancer-patients-with-non-brca-family-history-of-breastovarian-cancer%2F A team of Yale researchers have identified a genetic marker that can help predict the risk of developing ovarian cancer, a hard to detect and often deadly form of cancer. A team of Yale researchers have identified a genetic marker that can help predict the risk of developing ovarian cancer, a hard to detect and [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=3790886 Tue, 27 Jul 2010 05:00:00 +0100 3790886 http://www.medworm.com/index.php?rid=3767235&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F07%2F19%2Fnumber-of-genomes-sequenced%2F I remember when Hsien-Hsien Lei tried to list all the people who had their genomes sequenced. Here is a more comprehensive list from SNPedia. Now the FuturePundit blog shared some interesting projections about the number of people who would have their genomes sequenced in the future: 2001-2009: A Human Genome 2010: 1,000 Genomes – Learning the Ropes 2011: 50,000 Genomes – Clinical Flirtation 2012: 250,000 Genomes – Clinical Early Adoption 2013: 1 Million Genomes – Consumer Awareness 2014: 5 Million Genomes – Consumer Reality 2015-2020: 25 Million Genomes And Beyond – A Brave New World The cost of sequencing is still decreasing, but the cost of data analysis and whether it can affect medical decision-making are different questions. Even if many of us thought we would be quite ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3767235 Mon, 19 Jul 2010 13:54:59 +0100 3767235 http://www.medworm.com/index.php?rid=3740787&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2010%2F07%2F09%2Fesmo-clinical-practice-guidelines-regarding-brca-gene-mutations-ovarian-cancer-supportive-cancer-care%2F The European Society for Medical Oncology (ESMO) is the leading European professional organization committed to advancing the specialty of medical oncology, and promoting a multidisciplinary approach to cancer treatment and care. …  The ESMO Clinical Practice Guidelines include coverage of  (i) BRCA gene mutations in breast and ovarian cancer, (ii) gynecologic tumors, and (iii) supportive [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=3740787 Fri, 09 Jul 2010 22:27:51 +0100 3740787 http://www.medworm.com/index.php?rid=3714362&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F06%2F30%2F5949%2F 23andMe is a direct-to-consumer genetic company that also launched the 23andWe project in which they tried to use the data they obtain from patients in studies. Now the results are published in PLoS Genetics. Despite the recent rapid growth in genome-wide data, much of human variation remains entirely unexplained. A significant challenge in the pursuit of the genetic basis for variation in common human traits is the efficient, coordinated collection of genotype and phenotype data. We have developed a novel research framework that facilitates the parallel study of a wide assortment of traits within a single cohort. The approach takes advantage of the interactivity of the Web both to gather data and to present genetic information to research participants, while taking care to correct for the... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3714362 Wed, 30 Jun 2010 15:47:23 +0100 3714362 http://www.medworm.com/index.php?rid=3691023&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F06%2F23%2Fginahelp-org%2F Have you ever had problems with understanding what GINA, the Genetic Information Nondiscrimination Act, is really about? Anyway, this is a U.S. federal legislation that protects Americans from discrimination on the basis of genetic information. According to Spittoon: The Genetic Alliance, the Genetics and Public Policy Center at the Johns Hopkins University, and the National Coalition for Health Professional Education in Genetics have created an online resource to help people better understand the protections GINA provides.  This information is available in English and Spanish at www.GINAhelp.org. You can find out more about genetic information, GINA and health insurance; also GINA and employment. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3691023 Wed, 23 Jun 2010 17:11:27 +0100 3691023 http://www.medworm.com/index.php?rid=3687297&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F06%2F22%2Fpersonalized-genetics-fda-dtc-and-gina%2F Here are some interesting news and announcements to keep you absolutely up-to-date regarding the improvements of personalized medicine. Why 23andMe’s Sample Swap is Actually an Argument In Favor of DTC Genetic Testing There are a number of reasons why DTC genetic testing may soon find itself subject to increased federal regulatory oversight. However, 23andMe’s widely publicized data error should not be one of those reasons. In fact, the sample swap, while unfortunately timed, actually presents a compelling argument in favor of the direct-to-consumer model for genetic testing. Challenging the FDA: A History Lesson for DTC Genetics A Positive Response to Genetic Testing A personalized medicine study from the Coriell Institute for Medical Research suggests that patients who underg... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3687297 Tue, 22 Jun 2010 15:58:44 +0100 3687297 http://www.medworm.com/index.php?rid=3676833&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F06%2F18%2Festher-dyson-about-genomics%2F Esther Dyson answers questions about the direct-to-consumer genome market at the recent New York City Quantified Self Show&Tell meetup: (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3676833 Fri, 18 Jun 2010 10:23:47 +0100 3676833 http://www.medworm.com/index.php?rid=3658922&cid=t_103614_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=3644932&cid=t_103614_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_103614_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=3603755&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F05%2F27%2Fdiygenomics-on-smartphones%2F In personal or direct-to-consumer genomics, what we need is reliable, scientifically correct smartphone applications. Here is DIY Genomics, and Android app, which performs a side-by-side comparison of consumer genomic services such as deCODEme, Navigenics and 23andme by loci and variants for 20 conditions. It also does the same for drug responses and health risks. What can you do? Select 1 of 20 top conditions covered by consumer genomic services Side-by-side locus, gene and SNP comparison of deCODEme, Navigenics and 23andme Selecting any SNP row, comparison of underlying studies cited by company Click-through to PubMed study listing Actually it provides the user with reliable pieces of information that might help interprete the data. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3603755 Thu, 27 May 2010 10:23:06 +0100 3603755 http://www.medworm.com/index.php?rid=3573863&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F05%2F18%2Fpersonal-genomics-comes-to-us-drugstores%2F I’ve been writing about personal genomics for years. The standard concept of it is that you can order such genetic tests online, send your saliva or buccal swab to the lab where they analyze your DNA, then you can check online what kind of diseases you have elevated or lowered risk for. That’s how Navigenics, 23andMe or Pathway Genomics works. Now Pathway had a major announcement: San Diego based startup Pathway Genomics announced today that it will begin selling its DNA collection kits at Walgreens drugstores beginning in mid-May, for about $20 to $30. Unlike a pregnancy test, users won’t be able to get results immediately. They will have to send in their saliva sample and then go to Pathway’s website to select the particular test they want. Users choose from drug ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3573863 Tue, 18 May 2010 13:03:07 +0100 3573863 http://www.medworm.com/index.php?rid=3569782&cid=t_103614_87_f&fid=35052&url=http%3A%2F%2Ffeedproxy.google.com%2F%7Er%2FWomensBioethicsBlog%2F%7E5%2FNhh_F7xpU4c%2FPR_AJHG_ANCESTRY_TESTING.pdf I met Cynthia in a van from the airport, headed to the annual meeting of Family Tree DNA (familytreedna.com), where I was to speak about genetic testing. A beautiful blonde who looked decades younger than her 60 years, she’d led a painful life, with type 1 diabetes since childhood, just like her father, brother, and grandfather. The family, so they thought, was 100% European, mostly Polish. My talk did not go over well. Genetic testing companies and their customers do not like to hear that a geneticist thinks their tests should be regulated, for reasons of both privacy and accuracy. Cynthia, intrigued despite my warnings, sent off a spit sample to 23andme (23andme.com), to learn about her ancestry. She got that, and more – health information, including a “lower than average” risk o... Women's Bioethics Blog blogs http://www.medworm.com/rss/comments.php?id=3569782 Mon, 17 May 2010 15:19:42 +0100 3569782 http://www.medworm.com/index.php?rid=3563958&cid=t_103614_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=3563935&cid=t_103614_87_f&fid=36050&url=http%3A%2F%2Fblisstree.com%2Flive%2F178201%2F According to The New York Times, Walgreens pharmacies are holding off selling a new at-home genetic test, because the FDA just challenged legal issues surrounding the test. Post from: BlissTree (Source: Breastfeeding 1-2-3) Breastfeeding 1-2-3 blogs http://www.medworm.com/rss/comments.php?id=3563935 Fri, 14 May 2010 01:00:02 +0100 3563935 http://www.medworm.com/index.php?rid=3501581&cid=t_103614_111_f&fid=39123&url=http%3A%2F%2Ffeedproxy.google.com%2F%7Er%2Fnursingcomments%2Ftdtc%2F%7E3%2FfTeyILguohY%2F           Huntington’s disease (HD) is a progressive, inherited and degenerative brain disorder that produces physical, mental and emotional changes.  Named after George Huntington, the physician who first described the illness in 1872, Huntington’s disease was formerly known as Huntington’s chorea, from the Greek for choreography, or dance.  The name refers to the involuntary, jerky movements that can develop in later stages of the illness.  Approximately 30,000 people in the United States have Huntington’s disease, which affects men and women equally across all ethnic and racial lines.  While more common in adults, juvenile Huntington’s accounts for about one-sixth of all cases.  Every child of a parent who carries the HD gene has a 50% chance... Nursing Comments blogs http://www.medworm.com/rss/comments.php?id=3501581 Sat, 24 Apr 2010 14:29:03 +0100 3501581 http://www.medworm.com/index.php?rid=3501683&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2010%2F04%2F23%2Fparp-inhibitor-olaparib-benefits-women-with-inherited-ovarian-cancer-based-upon-platinum-drug-sensitivity%2F Olaparib (AZD2281), a new type of cancer drug known as a “PARP inhibitor,” produced promising results in patients with platinum-refractory, platinum-resistant, and platinum-sensitive ovarian cancer linked to an inherited BRCA1 or BRCA2 gene mutation. A new type of cancer drug — known as a “PARP inhibitor” — produced promising results in patients with ovarian cancer linked [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=3501683 Sat, 24 Apr 2010 00:38:57 +0100 3501683 http://www.medworm.com/index.php?rid=3499284&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2010%2F04%2F22%2Fincreased-ovarian-cancer-metastases-identified-in-women-with-brca-gene-mutations-may-shed-light-on-new-treatment-approach%2F U.K. researchers have found that patients with hereditary ovarian cancer – whose tumors are caused by faulty BRCA1 or BRCA2 genes – are more likely to experience metastases of the liver, lung, spleen, and viscera. … [T]he researchers suggest that ovarian cancer patients whose tumors spread to the solid organs … should be tested for [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=3499284 Thu, 22 Apr 2010 22:32:44 +0100 3499284 http://www.medworm.com/index.php?rid=3494508&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2010%2F04%2F21%2Fresearchers-identify-a-new-breast-ovarian-cancer-susceptibility-gene%2F German researchers identify a new breast and ovarian cancer susceptibility gene known as “RAD51C.”  The risk for breast cancer in women with the RAD51C mutation is 60 to 80 percent, while the risk for ovarian cancer is 20 to 40 percent. The discovery 15 years ago that the genes BRCA1 and BRCA2 confer high risks for [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=3494508 Thu, 22 Apr 2010 03:46:29 +0100 3494508 http://www.medworm.com/index.php?rid=3487290&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F959-Update-on-gene-patents.html Believe it or not there is one issue  out there where the mainstream media and the Catholic Church do not collide.  What is it?  The granting of patents for naturally occurring human genes.  You are probably not aware that about 25% of all human genes are patented.  This means that a company or university owns the genetic code that makes up that gene.  They own genes that you have and use in your body everyday.You also may not be aware that the patenting of your genes affects you directly. Because a company legal "owns" a gene sequence, they control who is able to test that gene or research that gene.  In the case of genetic testing, labs are limited on what genes they can offer tests for because of gene patents, which limits the choices they can offer patients. Labs that ... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=3487290 Mon, 19 Apr 2010 17:58:00 +0100 3487290 http://www.medworm.com/index.php?rid=3471783&cid=t_103614_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=3399104&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F03%2F24%2Fpersonalized-genomics-genetic-testing-registry-and-next-gen-sequencing%2F I know I have not been updating you about the improvements of personalized genomics lately, but here are the most interesting and important news focusing on this emerging field of medicine. When DNA means do not ask (TIME): Quite a negative (but partly valid) article from Camilla Long about genetic testing and DTC companies. And the answer for this piece by Genetic Future point by point. If Long wishes to stay ignorant of her own genetic risks – just as she has managed to remain ignorant of the entire field of genetics, even while writing an op-ed piece about it – that should be her choice. But her criticism of others who choose to pursue a greater understanding of their own genetic risk is entirely, horrendously misplaced. Next-Gen Sequencing in 2010 (Mass Genomics): Ever... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3399104 Wed, 24 Mar 2010 01:10:39 +0100 3399104 http://www.medworm.com/index.php?rid=3385501&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F03%2F19%2Fpathway-genomics-lets-see-my-genes%2F As I’m doing PhD in clinical genomics and I’m really interested in the connection between internet and medicine, so I was very happy when Pathway Genomics, one of the newest direct-to-consumer genetic companies, offered me a free genetic test. After an interview I did with them, I sent my saliva sample back and 3-4 weeks later, I received an e-mail that my results were ready. This is just an entry about my experience and the things I found interesting. As I got a free test from Navigenics a year ago, I plan to compare these services in a future entry. The reason why I was very interested in the service of Pathway Genomics is what they analyze: Risk markers for 70+ diseases Maternal and paternal ancestry Drug responses Carrier status 1) Sampling: It was quite an easy process... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3385501 Fri, 19 Mar 2010 19:17:47 +0100 3385501 http://www.medworm.com/index.php?rid=3363771&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F03%2F13%2F23andme-medical-advice%2F ThinkGene reported that Myriad and 23andMe perform the same breast cancer genetic test on the BRCA gene. The problem is 23andMe cannot provide medical advice. The conclusion is interesting and it would be great to hear what 23andMe has to say about this. The objections to this claim are that this same test is already defined for use as “health ascertainment or disease purposes” and that the use of this test is already included in standard medical practices in the United States. One implementation of this test for use as “health ascertainment or disease purposes” includes the Myriad “Multisite 3 BRACAnalysis” test. Thus, either the 23andMe “BRCA Cancer Mutations (Selected)” test is medicine, or the the Myriad “Multisite 3 BRACAnalysis” test is not medicine. And the seco... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3363771 Sat, 13 Mar 2010 20:56:52 +0100 3363771 http://www.medworm.com/index.php?rid=3302547&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F945-Genetic-testing-doesnt-kill%2C-abortion-does.html I am reluctant to write this post simply because I greatly admire the woman who I am about to comment on.  More importantly, I feel her outrage.  But I feel it is important to put the blame for eugenic abortion where it truly belongs.  Kristan Hawkins, a pro-life mother of a child with cystic fibrosis, writes at LifeNews.com about how prenatal genetic testing is killing babies: As I have written before, I have become deeply involved with the current healthcare reform debate arguing that the system desired by the President and Democratic Congressional leaders will lead to rationing of care and slower development of potential life-saving treatments for children like Gunner. Recently my research into this issue has led me down another path: pre-natal genetic testing.Doing a simple Google s... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=3302547 Wed, 24 Feb 2010 00:38:52 +0100 3302547 http://www.medworm.com/index.php?rid=3276041&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2010%2F02%2F15%2Flibbys-hope-to-present-at-nocc-6th-annual-womens-health-expo-rejuvenate-finding-balance%2F On March 20, 2010, the National Ovarian Cancer Coalition (Maryland Chapter) will hold its 6th Annual Women’s Health Expo entitled, REJUVENATE Finding Balance (NOCC Rejuvenate), at the Sheraton Annapolis Hotel. … On behalf of Libby’s H*O*P*E*™, I will conduct a seminar as part of Session II entitled, A Patient Advocate’s Perspective on the Importance of [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=3276041 Mon, 15 Feb 2010 21:53:26 +0100 3276041 http://www.medworm.com/index.php?rid=3254632&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F935-Does-the-government-have-your-childs-DNA-Updated..html **It seems like the practice of saving newborn screening cards by state governments is getting more and more attention.  This entry is becoming very popular, so I decided to update it a bit with a link to a document that lists which states are saving newborn cards and for how long.**HealthofChildren.comI hate to be so sensational, but I think it is important for parents to understand that your child's DNA maybe stored in a state government facility and you have no idea. Impossible you say? You know that heel stick that your child got in the hospital right after birth?  Some states keep and catalog that blood for use in further research and some envision a time when a whole genome scan is performed on that sample.  There are real concerns that the information provided by that seemingly i... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=3254632 Mon, 08 Feb 2010 21:05:51 +0100 3254632 http://www.medworm.com/index.php?rid=3216774&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F01%2F28%2Fpathway-genomics-i-spit-again%2F Last year, I got an offer from Navigenics to analyze my salive sample and of course, I gladly accepted it and shared the results with you. I also visited Navigenics HQ in Redwood City. Now, after an interview with Pathway Genomics, I got a chance to send my saliva sample to Pathway Genomics as well. I’m very interested to see the ancestry, carrier status and drug responses. Here are some pictures I took: I plan to share my experiences and also compare the results and the sampling processes which is going to be quite exciting. I will keep you posted. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3216774 Thu, 28 Jan 2010 17:22:46 +0100 3216774 http://www.medworm.com/index.php?rid=3212502&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F01%2F26%2Fsmartphone-as-a-personal-genome-assistant%2F A few months ago, I wrote about a press release: Using the Google Phone’s built-in bar code reader, Dr. Pellionisz demonstrated how personal genome computing can detect genome-friendly and genome-supportive products from foods to cosmetics to building materials and beyond. You upload data from personal health record system such as Microsoft Healthvault or Google Health; genomic data from 23andMe or Navigenics to your smartphone and then by using the bar code reader, you can find products that are probably good for you based on your genomic and health profiles. Though the system has several limitations (e.g. how useful genomic data is right now regarding medical decisions), it sounds quite interesting. Here is the process on video: (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3212502 Tue, 26 Jan 2010 21:15:32 +0100 3212502 http://www.medworm.com/index.php?rid=3201860&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F01%2F23%2Festher-dyson-on-personalized-medicine%2F Esther Dyson is a catalysist of start-ups in the IT field, and also a director of 23andMe, the popular direct-to-consumer genetic testing company. She was now interviewed about personalized medicine. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3201860 Sat, 23 Jan 2010 17:13:25 +0100 3201860 http://www.medworm.com/index.php?rid=3149250&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F918-Can-a-simple-genetic-test-tell-you-your-childs-natural-talents.html I just came upon the website My Gene Profile via one of my favorite genetics bloggers Daniel MacArthur.  My Gene Profile claims that your children have inborn talents and they can discover them for you with a simple genetic test.  They insist that they can tell you what your child's talents are "immediately after birth" with their Inborn Talent Genetic Test.  My Gene Profile claims that you can find out about your child's IQ, athletic ability, creativity, musical ability and social aptitude while they are still an infant because these are genetically determined traits.  Their information comes from the Human Genome Project which sequenced the entire human genome.My Gene Profile says that with their Inborn Talent Genetic Test your parenting woes are over.  You can customize t... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=3149250 Wed, 06 Jan 2010 21:18:16 +0100 3149250 http://www.medworm.com/index.php?rid=3044941&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F11%2F30%2Fpathway-genomics-interview%2F Some months ago, I wrote about the importance of customer service in the life of direct-to-consumer genomic companies. After the post, Pathway Genomics contacted me and said they were excited to speak more openly about their service. They also want to educate the community on genetic testing services and what these test results will and will not tell you. Here is the interview they have recently given to me. Pathway Genomics is one of the newest competitors in the DTC genomics market. How do you aim to make a difference? Quality. Pathway has a wholly owned federal CLIA and California State licensed laboratory. This onsite lab removes any “middle-man” issues. DNA samples are collected in Pathway’s custom-designed DNA collection kits and shipped directly to Pathway’s laboratory in... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3044941 Mon, 30 Nov 2009 20:46:15 +0100 3044941 http://www.medworm.com/index.php?rid=3008306&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F11%2F18%2Fagenda-for-personalized-medicine-answers%2F A few weeks ago, Pauline C. Ng, Sarah S. Murray, Samuel Levy and J. Craig Venter published a quite an interesting piece  in the October 8, 2009 issue of Nature. In this publication, they had really relevant suggestions for Direct-to-consumer genomics companies such as Navigenics or 23andMe. Now, surprisingly, they two giants published an answer together: Dear Editor: We read with interest the Opinion piece entitled “An agenda for personalized medicine” in the October 8, 2009 edition of Nature. Our two companies, though commercially distinct with differentiated products, would like to respond to this piece jointly to show our commitment to working together in an open, transparent fashion. Our companies agree with most of the recommendations Ng and colleagues made.  Without doubt, geno... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3008306 Wed, 18 Nov 2009 20:06:21 +0100 3008306 http://www.medworm.com/index.php?rid=2993889&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F11%2F15%2Feuropean-personalised-medicine-diagnostics-association%2F We all know about the Personalised Medicine Coalition: The Personalized Medicine Coalition (PMC) is an independent, non-profit group that works to advance the understanding and adoption of personalized medicine for the ultimate benefit of patients. Our diverse members work together to educate opinion leaders and the public about the issues that will shape how personalized medicine develops — and how quickly all of us can benefit from it. Now I was glad to see the European Personalised Medicine Diagnostics Association just launched as reported by GenomeWeb. Made up of biotechnology firms, academic and institutional researchers, small and large businesses, and patient advocacy groups, the European Personalised Medicine Diagnostics Association (EPEMED) announced its board of directors this ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2993889 Sun, 15 Nov 2009 13:22:05 +0100 2993889 http://www.medworm.com/index.php?rid=2923405&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F10%2F23%2Fpersonalized-medicine-exposes-a-gap-in-medical-education%2F Do you remember the report focusing on how young physicians at Beth Israel Deaconess Medical Center test their own DNA in search of genes linked to various illnesses? I’ve now just come across a great article in PLoS Medicine about how the dawning era of personalized medicine exposes a gap in medical education. As personal genetic information becomes an increasingly frequent component of the patient medical record, it is crucial that medical students be trained to use and interpret this information appropriately and responsibly. Here, I argue the need for medical education reform that equips physicians with the knowledge, skills, and attitudes required to practice personalized medicine. In my university credit course, “Web 2.0 in Medicine“, I cover partly this issue ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2923405 Fri, 23 Oct 2009 18:07:41 +0100 2923405 http://www.medworm.com/index.php?rid=2920446&cid=t_103614_136_f&fid=36032&url=http%3A%2F%2Fwww.everydayhealth.com%2Fblog%2Flife-with-breast-cancer%2Fdr-kristi-funk-on-breast-cancer-and-genetic-testing%2F I was so blessed to get some time to talk with Dr. Kristi Funk in a phone interview. In my last blog I shared the first part of our interview when I asked her about choosing a lumpectomy over a mastectomy. While she was willing to put forth her thoughts on my questions, Dr. Funk is very supportive of her profession as a whole, indicating that a woman needs to discuss all her options with her own surgeon. Genetic testing for the BRCA gene mutation is one of the biggest advancements recently that we have made in the battle against breast cancer in my mind. So this was definitely an issue I wanted to explore further with Dr. Funk. I know that genetic testing is now being examined by oncologists to help determine the types of treatment to prescribe for a patient with breast cancer, but I wante... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=2920446 Fri, 23 Oct 2009 15:49:29 +0100 2920446 http://www.medworm.com/index.php?rid=2881287&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FFccxlRW8-qg%2F Couples at high risk for genetic disorders would prefer to have pre-implantation genetic diagnosis (PGD) rather than risk terminating a pregnancy later, a study from Fertility and Sterility Journal showed. Preimplantation genetic diagnosis (PGD) is performed after in-vitro fertilization where an embryo is tested for mutations that can lead to genetic defects, before being implanted into the uterus. Obviously, PGD reduces the need for prenatal genetic testing in the middle of a pregnancy, and avoid having to choose between terminating or continuing on with the pregnancy. The study showed that among 210 Dutch couples with genetic disorders, 60% would prefer diagnostic testing and, of these 74% preferred PGD over prenatal testing. Couples who are high risk for specific disorders and where ... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2881287 Sun, 11 Oct 2009 03:50:00 +0100 2881287 http://www.medworm.com/index.php?rid=2879737&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F10%2F09%2Fpersonalized-genetics-in-the-news-3d-structure-and-bar-code-reader%2F Scientists Decipher The 3-D Structure Of The Human Genome The researchers report two striking findings. First, the human genome is organized into two separate compartments, keeping active genes separate and accessible while sequestering unused DNA in a denser storage compartment. Second, at a finer scale, the genome adopts an unusual organization known in mathematics as a “fractal.” The specific architecture the scientists found, called a “fractal globule,” enables the cell to pack DNA incredibly tightly – the information density in the nucleus is trillions of times higher than on a computer chip — while avoiding the knots and tangles that might interfere with the cell’s ability to read its own genome. Moreover, the DNA can easily unfold and refol... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2879737 Fri, 09 Oct 2009 19:02:09 +0100 2879737 http://www.medworm.com/index.php?rid=2852016&cid=t_103614_136_f&fid=36032&url=http%3A%2F%2Fwww.everydayhealth.com%2Fblog%2Flife-with-breast-cancer%2Fwhen-young-women-have-to-alter-family-planning-because-of-breast-cancer%2F Along with genetic counseling comes the discussion for young women about having children. If someone tests positive for a genetic mutation that makes them predisposed to breast cancer, thoughts immediately turn to treatment and prevention. For women who are younger and have never been pregnant, those thoughts also include how to reduce risks of breast cancer while protecting fertility. I mentioned last week that my niece Nicole is expecting her first child. A couple of years ago she tested positive for the BRCA II mutation, putting an added burden on this childhood survivor of leukemia. While we wait with joy for her baby, we also think about all that that young woman has endured to have this life. She is married to a wonderful, incredibly intuitive and talented young man. They are a beaut... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=2852016 Thu, 01 Oct 2009 17:53:12 +0100 2852016 http://www.medworm.com/index.php?rid=2834394&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F886-Will-Babies-with-Down-Syndrome-Disappear.html I feel a rant coming on.  Oh here it comes.  This piece Will babies with Down syndrome disappear? has all of the elements that simply drive me crazy.  From the euphemisms to the pointless open ended questions, this has it all.  Where do I begin?  How about here:Pregnant women have access to more prenatal tests than ever before with numerous options available to determine the likelihood of genetic disorders. What if those tests slowly led to fewer babies being born with Down syndrome and if the disorder eventually disappeared?Let us be honest.  Down Syndrome will NEVER disappear.  It will always be around.  What may "disappear" are the people who have it.  Fewer babies being born with Downs does not mean that Downs is being eliminated.  Downs just does not "disappea... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2834394 Fri, 25 Sep 2009 18:51:26 +0100 2834394 http://www.medworm.com/index.php?rid=2758012&cid=t_103614_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=2752087&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FkDNsa2XdrJs%2F Testing for one’s genetic risk has become increasingly popular in recent years with the mapping of the human genome. Now, you have the opportunity to know if you carry the BRCA genes, or know your risk for Alzheimer’s, other cancers, heart diseases and other diseases and traits, and even one’s genetic ancestry, based on the presence of certain DNA segments in your genome. Direct-to-Consumer (DTC) DNA testing, also known as personal genome services, allows a person to get his genetic profile just simply by swabbing one’s cheeks or spitting into a test tube and sending the sample back to the genetic testing company. In a few weeks you have your results back in print and at a password-controlled website. Pretty nifty, right? Actor Ernie Hudson swabs cheek for African Ancestry DNA ... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2752087 Tue, 01 Sep 2009 03:59:12 +0100 2752087 http://www.medworm.com/index.php?rid=2730325&cid=t_103614_136_f&fid=36032&url=http%3A%2F%2Fwww.everydayhealth.com%2Fblog%2Flife-with-breast-cancer%2Fhealth-care-reform-and-breast-cancer%2F Too many women are still finding breast cancer too late only because they don’t have insurance and can’t afford regular check-ups. Even with the best hospitals, treatment facilities, medicine, doctors and follow up care in the world, it is not helping those who don’t have access to it. Several of the comments that were posted to my blog last week on genetic testing were from people desperate for the test, needing it, but not able to afford it. It may appear that I have been silent about health care but the truth is that I have been discussing it on another forum. I have had the opportunity to participate in a panel to discuss health care reform on The Washington Post’s Web site. As a member of the panel I get to give my views on a weekly question concerning health c... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=2730325 Mon, 24 Aug 2009 18:46:37 +0100 2730325 http://www.medworm.com/index.php?rid=2725165&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F08%2F22%2Ftrugenetics-gives-up%2F I subscribed to the newsletter of TruGenetics to see whether they can change the personalized genetics market. And yesterday, I received this e-mail: Dear Registrant, Thank you for participating in TruGenetics’ pre-registration Beta. We wanted to inform you that despite our best efforts and contrary to our expectations, our funding sources did not come through and to date, we have been unable to secure funding for launching our genome scanning program. Given the current economic climate, we are also unsure how long the funding process will take. We understand that some of you may want to seek genome scanning services from other companies. Therefore, we are offering you the option to remove your information from our database. Using your username and password, you can log on to www.tru... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2725165 Sat, 22 Aug 2009 20:13:17 +0100 2725165 http://www.medworm.com/index.php?rid=2702485&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2009%2F08%2F14%2Fwomen-often-opt-to-surgically-remove-their-breasts-ovaries-to-reduce-cancer-risk%2F Many women at high risk for breast or ovarian cancer are choosing to undergo surgery as a precautionary measure to decrease their cancer risk, according to a report in Cancer Epidemiology, Biomarkers & Prevention, a journal of the American Association for Cancer Research. PHILADELPHIA – Many women at high risk for breast or ovarian cancer are [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=2702485 Fri, 14 Aug 2009 21:45:23 +0100 2702485 http://www.medworm.com/index.php?rid=2688868&cid=t_103614_136_f&fid=36032&url=http%3A%2F%2Fwww.everydayhealth.com%2Fblog%2Flife-with-breast-cancer%2Fconcern-for-your-family-if-you-are-a-brca-gene-carrier%2F Being diagnosed with the BRCA II gene mutation for breast cancer answers a lot of questions for me. For one thing it helps me to understand how I could have been so careful with my health and yet developed breast cancer. I don’t have to wonder what I should have done to prevent it. To some extent we all ask that question after diagnosis wondering how we could have avoided developing the disease, but as my surgeon said “Cancer is not your fault.” I never believed it was, but nonetheless having a predisposition to the cancer still provides me with some insight. It also gives me something more to consider. I have been considering how the hereditary factor may affect my children. I wrote a couple of weeks ago about “the Big Guy” asking me if the cancer I had was ran in th... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=2688868 Mon, 10 Aug 2009 18:08:57 +0100 2688868 http://www.medworm.com/index.php?rid=2683957&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F08%2F08%2Fstudy-on-consumer-genomics%2F A study is being performed for a sociology doctoral thesis on consumer experiences of Direct To Consumer genomic testing. It consists of an open-ended survey in which participants describe their account in their own terms. Click here to do the survey. The site is part of the (secure) Australian National University website. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2683957 Sat, 08 Aug 2009 20:41:30 +0100 2683957 http://www.medworm.com/index.php?rid=2678802&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FYb3TdyGz7yU%2F This is common with most infections, but especially scary when it comes to the flu. You may have already passed the virus to someone even before you showed signs that you were sick. Case in point – the swine flu: the range of transmission is one day before showing symptoms up to seven days after getting sick.  Until your fever spiked you will have no idea that you’re sick with the flu, or any infection for that matter. But scientists from Duke University say that may all change in the future. Geoffrey Ginsburg and his colleagues have developed an experimental genetic test that can detect infections before symptoms appear. Now that’s a landmark discovery don’t you think? You can just go to your doctor’s office and get yourself tested and find out if you are before you show ... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2678802 Fri, 07 Aug 2009 11:35:00 +0100 2678802 http://www.medworm.com/index.php?rid=2678796&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F08%2F07%2Fmore-and-more-spits-on-video%2F Health 2.0 Intern Lauren Verrilli tried out the Navigenics HealthCompass that I also tried a few months ago. Jen S. McCabe from Health Management RX shared her genomic results through some nice videos as well. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2678796 Fri, 07 Aug 2009 05:47:04 +0100 2678796 http://www.medworm.com/index.php?rid=2671018&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F08%2F05%2Fdna-test-for-chinese-children-to-find-genetic-gifts%2F I couldn’t believe what I read in the newest CNN headline. Let’s see what happened: At the Chongqing Children’s Palace, experts are hoping to revolutionize child-rearing with the help of science. About 30 children aged 3 to 12 years old and their parents are participating in a new program that uses DNA testing to identify genetic gifts and predict the future. The test is conducted by the Shanghai Biochip Corporation. Scientists claim a simple saliva swab collects as many as 10,000 cells that enable them to isolate eleven different genes. By taking a closer look at the genetic codes, they say they can extract information about a child’s IQ, emotional control, focus, memory, athletic ability and more. Source: CNN.com Let’s be clear here, they analyze 11 genes fo... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2671018 Wed, 05 Aug 2009 06:01:48 +0100 2671018 http://www.medworm.com/index.php?rid=2667619&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F7khS1a0Yh10%2F Here’s a news that would have made it to the Maury Show. Actor Jude Law (36) wanted to get DNA test to make sure that the baby that girlfriend Samantha Burke (24) is really his. Burke and Law had a summer fling while he was working on the movie “Sherlock Holmes”, and when she became pregnant, Law wanted a DNA test on the unborn child. Hollywood actor Jude Law wants DNA test for unborn child. So I guess Jude Law isn’t sure he’s the father? Oh well, that’s not my business. One usually wants to establish paternity (among other things) because it settles legal and social benefits for the child, as well as give the child an accurate medical history. But prenatal DNA testing does not come without risks. Testing for chromosome abnormalities are the usual reasons for wanting to do DNA... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2667619 Tue, 04 Aug 2009 12:28:30 +0100 2667619 http://www.medworm.com/index.php?rid=2667652&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2009%2F08%2F03%2Fbeyond-brca1-brca2-u-k-researchers-identify-genetic-defect-that-could-increase-risk-of-ovarian-cancer-up-to-40%2F Scientists have located a region of DNA which – when altered – can increase the risk of ovarian cancer according to research published in Nature Genetics today. An international research group led by scientists based at the Cancer Research UK Genetic Epidemiology Unit, at the University of Cambridge and UCL (University College London) searched [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=2667652 Mon, 03 Aug 2009 21:59:29 +0100 2667652 http://www.medworm.com/index.php?rid=2660868&cid=t_103614_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=2660943&cid=t_103614_150_f&fid=38374&url=http%3A%2F%2Ffeedproxy.google.com%2F%7Er%2FePharmaSummit%2F%7E3%2F0YjhcZsMGnY%2Freactions-to-receiving-results-from.html (Source: ePharma Summit) ePharma Summit blogs http://www.medworm.com/rss/comments.php?id=2660943 Fri, 31 Jul 2009 17:02:00 +0100 2660943 http://www.medworm.com/index.php?rid=2653941&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FuEqydlj8BvI%2F Pain is a good thing. The sensation helps us know that bumping our heads on the table edge hurts. Pain tells us when something is wrong in our body, and warns us to do something about it. And in most people, pain comes with tears. Whereas most of us would cry in pain when hurt, children like Avigail Eshet do not feel the pain, or shed a tear. Avigail suffers from a rare genetic disorder that numbs her sense of pain and reaction to temperature. Avigail is in danger of hurting herself from accidents and she would not even feel it. And when the 8-year old girl gets upset or stressed, she produces excess adrenalin that drives her blood pressure and heart rate through the roof. She also suffers from frequent lung infections and pneumonia and has trouble swallowing her food. I wouldn’t even ... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2653941 Thu, 30 Jul 2009 06:59:48 +0100 2653941 http://www.medworm.com/index.php?rid=2649197&cid=t_103614_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_103614_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=2630337&cid=t_103614_136_f&fid=36032&url=http%3A%2F%2Fwww.everydayhealth.com%2Fblog%2Flife-with-breast-cancer%2Fexplaining-hereditary-cancer-to-your-children%2F Yesterday my youngest son, “The Big Guy,” asked me if the cancer I had ran in the family. He is only 18 so we have not alarmed him about the possibility that he could test positive for the BRCA 2 gene mutation for breast cancer. Since Sister and I inherited it from my Dad, there is the possibility that my future grandchildren can inherit it from my sons. My niece Nicole tested positive and is expecting her first child, her younger sister refuses to get tested. I hadn’t expected the question, so I answered as best I could telling him that as he gets older we will get him tested and I would like to start him on a vitamin regime to ensure he has a strong immune system. He could develop prostate or breast cancer if he is predisposed with the gene mutation. It reminds me why w... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=2630337 Wed, 22 Jul 2009 22:16:34 +0100 2630337 http://www.medworm.com/index.php?rid=2576793&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FD5S2fA1tR_8%2F Do you know that for as little as a $100 and a DNA swab of your cheeks, a company can reveal your family tree and ancestral homeland? Well, don’t believe them! Don’t believe a company who will tell you you’re descended from Genghis Khan, or Napoleon Bonaparte or some (in)famous person in history.   According to researchers who analyzed genetic ancestry testing, it’s a common misconception that the test can reveal information about an individual’s ancestry. In reality, genetic tests will only tell you that there are people in the world who share your DNA pattern, but these tests can not tell you where your ancestors lived or the ancient somebody you’re related with. Unless of course, they have DNA on those people too. In fact, genetic ancestry test can not also tell you... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2576793 Tue, 07 Jul 2009 10:04:27 +0100 2576793 http://www.medworm.com/index.php?rid=2576794&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FpqcH3R1sUrw%2F DNA testing on the deceased is hard enough, but on 3,000 year-old mummies?! Burial mask of mummy King Tutankhamun. Image: Newscom But that’s exactly what Egypt hopes to do with its most famous mummy King Tutankhamun and the two fetuses found in his tomb. After ten years of refusal, Egypt’s chief of antiquities Zahi Hawass finally allowed DNA tests to discover the lineage of King Tut. King Tut only lived for 19 years in ancient Egypt and reigned for nine years, but he became famous for the mysteries surrounding his life and abrupt death. His discovery in 1922 was a magnificent surprise. His secret tomb remained untouched by thieves, and with him were buried more treasures than any royal tomb ever found. The identity of his parents were never known. He supposedly married the daughter of ... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2576794 Mon, 06 Jul 2009 19:43:00 +0100 2576794 http://www.medworm.com/index.php?rid=2561490&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FPPrMZHXnyEw%2F Will a new prenatal genetic test create designer babies? That’s one of the questions raised as news that a universal embryo test could be available next year. The current method for prenatal genetic testing involves either amniocentesis or chorionic villus sampling (CVS) to get embryo fluids or placenta cells from a pregnant woman’s abdomen. The placenta or placental fluids contain cells generated by the fetus. These cells are used to identify chromosomal abnormalities that can affect a baby’s survival or capacity at birth. Prenatal genetic tests are mainly used to provide information to the parents about their unborn child’s genetic condition before birth, so they can make informed decisions and manage the pregnancy better. Unfortunately, the current methods are invasive and te... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2561490 Wed, 01 Jul 2009 07:34:17 +0100 2561490 http://www.medworm.com/index.php?rid=2512326&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F06%2F20%2Fpersonalized-medicine-genetic-tests-for-drugs%2F Pharmacogenetics of warfarin – is testing clinically indicated?: A must-read about warfarin and Coumadin issues. This page catalogues drugs with pharmacogenomic information in the context of FDA-approved drug labels and lists drugs with mounting pharmacogenomic evidence. Have you ever seen a Promethease Report? Promethease is a tool to build a report based on SNPedia and a file of genotypes. Customers of testing services (23andMe, deCODEme, Navigenics, …) can use it to learn more about their DNA. It can also pool the data from multiple testing services. The program runs for approximately 2 hours. If you make an optional $2 payment via Amazon.com the program runs faster. Actually, I cannot download my genomic data from Navigenics, but will be able to do so after the summer. Any... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2512326 Sat, 20 Jun 2009 07:15:10 +0100 2512326 http://www.medworm.com/index.php?rid=2512348&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F827-Is-the-over-the-counter-prenatal-gender-test-ethical.html Intelligender has a product on the market that they say can tell a woman whether she is having a boy for girl as early as 10 weeks after conception (which is really 12 weeks in OB/GYN time.)  And it is sold over the counter at your local pharmacy.The test works by testing proteins in a woman's urine that are different depending on the sex of the fetus.  As you can imagine pro-lifers everywhere are wary and already dislike this OTC test because it will make it that much easier for a woman to abort her child if it isn't the sex she wants.  I get this sense that pro-lifers are all too ready to blame the makers of this test for any sex selection abortions that are a result of any information their product provides.  I believe this is wrong thinking.Ethically, I don't think there is anythin... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2512348 Fri, 12 Jun 2009 18:36:24 +0100 2512348 http://www.medworm.com/index.php?rid=2473871&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F06%2F11%2Fillumina-newest-member-of-the-personalized-genetics-market%2F After Navigenics, 23andMe, DecodeMe, Knome or the recently described Pathway Genomics, Illumine joins the direct-to-consumer genetic testing market. Illumina, Inc. today unveiled a service program to provide high-quality personal genome sequencing for consumers. This is the first service to offer complete coverage of the human genome sequence for under $50,000. The offering includes sequencing of an individual’s DNA to 30 times depth, providing information on SNP variation and other structural characteristics of the genome such as insertions, deletions and rearrangements. “Rapidly decreasing costs have made sequencing a pervasive technology that can begin to be accessed at the consumer level,” said Jay Flatley, CEO and president of Illumina. “We are entering a new era in genomi... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2473871 Thu, 11 Jun 2009 20:21:41 +0100 2473871 http://www.medworm.com/index.php?rid=2474070&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2009%2F06%2F10%2Fone-in-three-billion-found-single-mutation-in-the-foxl2-gene-may-cause-granulosa-cell-ovarian-cancer%2F “… Vancouver scientists from the Ovarian Cancer Research (OvCaRe) Program at BC Cancer Agency and Vancouver Coastal Health Research Institute have discovered that there appears to be a single spelling mistake in the genetic code of granulosa cell tumours, a rare and often untreatable form of ovarian cancer. This means that out of the three [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=2474070 Thu, 11 Jun 2009 06:05:16 +0100 2474070 http://www.medworm.com/index.php?rid=2452975&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F816-Does-the-State-have-your-childs-DNA-on-file.html As a follow up to Does the Government Have Your Child's DNA, I found this chart put together by Citizen's Council on Health Care.  It lists State by State government newborn blood & baby DNA retention practices. Going back to 2001, it lists whether or not your state stores your child's blood from a newborn screening card, and for how long.  And remember, the blood and DNA on those cards are considered the property of the state.If you have children 8 years or younger, I would recommend finding out if your child's blood is being stored by your state.  Two of my children will have their newborn screening cards stored until they are adults.  If the information on this chart bothers you, I suggest contacting your state representatives and let them know.  As parents we should be fully i... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2452975 Wed, 03 Jun 2009 13:13:36 +0100 2452975 http://www.medworm.com/index.php?rid=2447969&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F05%2F30%2Fpathway-genomics-a-new-contestant%2F There already are plenty of companies offering direct-to-consumer genetic testing such as Navigenics, 23andMe, DecodeMe or Knome. Now, here is Pathway Genomics that aims to offer “the fastest, easiest and most secure DNA testing available, providing information that can save your life” for $249. Quite a brave mission statement, but the service seems to be promising. You can order the test online, send your salive sample back and then they will share the genomic results of your sample with you through a secure form. You can get information about: Risk markers for 90+ diseases Maternal and paternal ancestry Drug responses including statins and warfarin. Carrier status (pre-pregnancy) Personal inheritable traits for eye color and back pain, among others. Here they discuss priva... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2447969 Sat, 30 May 2009 20:44:27 +0100 2447969 http://www.medworm.com/index.php?rid=2442555&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2009%2F05%2F24%2Fgenetic-testing-for-hereditary-breast-and-ovarian-cancers-greatly-underutilized-by-high-risk-women%2F A women’s lifetime breast cancer risk is approximately 13 percent, and her ovarian cancer risk is less than 2 percent.  But women with BRCA1 (BReast CAncer 1) or BRCA2 (BReast CAncer 2) gene mutations may be 3 to 7 times more likely to develop breast cancer, and 9 to 30 times more likely to develop [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=2442555 Mon, 25 May 2009 01:03:00 +0100 2442555 http://www.medworm.com/index.php?rid=2442435&cid=t_103614_134_f&fid=35187&url=http%3A%2F%2Ffeedproxy.google.com%2F%7Er%2FDiabetesDaily%2F%7E3%2FsLy4A0D4a40%2Fsorry-you-cant-test-your-genes.php I detest the idea that someone can patent specific genes. In principle, I am less opposed to patenting a unique test to identify a genetic sequence. However, when you use your patent to block others from making advances, then you cross an ethical line. Can you imagine dying of a treatable disease because the folks at Myriad Genetics don't feel like licensing their technology? Many readers have probably heard that... (Source: Diabetes Daily) Diabetes Daily blogs http://www.medworm.com/rss/comments.php?id=2442435 Fri, 22 May 2009 19:24:23 +0100 2442435 http://www.medworm.com/index.php?rid=2415617&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F05%2F15%2Fnavigenics-customers-speak%2F I’ve found two videos about Navigenics in which their customers share their experiences with personal genetic testing. Navigenics is a company focusing on direct-to-consumer genetic testing. I analyzed their service in details a few weeks ago. (Via HumanGeneticsDisorders.com) (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2415617 Fri, 15 May 2009 21:50:41 +0100 2415617 http://www.medworm.com/index.php?rid=2405976&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2009%2F05%2F13%2Faclu-challenges-patents-on-genes-responsible-for-hereditary-breast-and-ovarian-cancers%2F “The American Civil Liberties Union and the Public Patent Foundation at Benjamin N. Cardozo School of Law (PUBPAT) filed a lawsuit … charging that patents on two human genes associated with breast and ovarian cancer stifle research that could lead to cures and limit women’s options regarding their medical care. Mutations along the genes, known [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=2405976 Wed, 13 May 2009 20:24:47 +0100 2405976 http://www.medworm.com/index.php?rid=2390175&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FNEmnSTQkrV4%2F Last month I told you about an innovative partnership that brings community healthcare into the 21st century. The Genomic Medicine Institute was launched at Silicon Valley’s El Camino Hospital together with DNA Direct to enable physicians and their patients access to leading-edge genomic services. Physician studying DNA radiograph. Image: Newscom Genomic Medicine Institute was created so that patients can be better directed in their decisions about their medical conditions, especially when it comes to using genetic tests and counseling. For example, when someone finds out she has breast cancer, one of the questions that is asked is will she pass it to her daughter? Should she tell her sisters about it? Should she have mastectomy? Should her daughter have mastectomies? Difficult quest... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2390175 Wed, 06 May 2009 17:42:41 +0100 2390175 http://www.medworm.com/index.php?rid=2381062&cid=t_103614_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2009%2F04%2F30%2Fwomen-of-diverse-ethnic-ancestry-have-similar-risk-of-carrying-brca-mutations-as-those-with-western-european-ancestry%2F ” …The study, performed by researchers at Philadelphia’s Fox Chase Cancer Center and Myriad Genetics, Inc., analyzed the prevalence of BRCA1/BRCA2 gene mutations in patients of different ethnicities at risk for hereditary breast and ovarian cancer. The study included test results of 46,276 women during the ten-year period from 1996 to 2006. Study subjects encompassed [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=2381062 Thu, 30 Apr 2009 23:12:40 +0100 2381062 http://www.medworm.com/index.php?rid=2349271&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FKh3crT2YFwY%2F In recent years, more and more genetic tests and therapies have become available for patients, physicians and the interested individual. But how does one know which tests to take or are appropriate for one’s condition? And what do we do after we have the test results on our hands? Can our physician help us? Image: Newscom This March, the Genomic Medicine Institute was launched at El Camino Hospital in Monterey, California in response to the emerging opportunities and challenges that the genomic era has introduced. El Camino partnered with DNA Direct to become the first community hospital to integrate genomic medical services into its routine healthcare and provide El Camino physicians and their patients with access to leading edge genomic-based technologies. I had the pleasure of talking... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2349271 Mon, 13 Apr 2009 03:40:00 +0100 2349271 http://www.medworm.com/index.php?rid=2323387&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F779-The-Genome-Revolution-Feminism-2.0.html Daniel MacArthur at Genetic Future has a hilarious, yet important, post on the genetic testing company 23andMe's marketing to pregnant women.  23andMe has recruited "mommy bloggers" to experience a genome scan as a way to "explore the genetic legacy your child will inherit from you and your partner."  Daniel writes: What's in it for the mommy bloggers? I don't know if they're being paid, but I can tell you that many of them were invited on a grand tour of 23andMe and Google HQ back in January, where they were exposed to the full force of Google coolness combined with the poise and charm of 23andMe's famously pink-toned girl power brigade. Here's one of those bloggers gushing immediately after the meeting:The last thing I'll say about the trip is this--the two co-found... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2323387 Wed, 01 Apr 2009 16:31:10 +0100 2323387 http://www.medworm.com/index.php?rid=2306835&cid=t_103614_87_f&fid=35052&url=http%3A%2F%2Ffeedproxy.google.com%2F%7Er%2FWomensBioethicsBlog%2F%7E3%2FJ_sUIO-wdP0%2Fwhy-i-love-designer-babies-part-deux.html Last month, Kathryn Hinsch started a lively discussion in her post, "Why I Love Designer Babies" -- this month, New Scientist editor Michael LePage adds fuel to the debate on genetic selection:Fears over 'designer' babies leave children suffering MADELINE Kara Neumann, age 11, died of diabetes because her parents prayed rather than taking her to doctors. Caleb Moorhead, age 6 months, died after his deeply religious vegan parents refused a simple vitamin injection to cure his malnutrition. The list of children killed by their parents' superstition or wilful ignorance is a long one. Most people are rightly appalled by such cases. How can parents stand by and let their children die instead of doing all in their power to get the best medical care a... Women's Bioethics Blog blogs http://www.medworm.com/rss/comments.php?id=2306835 Tue, 24 Mar 2009 12:27:46 +0100 2306835 http://www.medworm.com/index.php?rid=2274489&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F768-Trisomy-13-Incompatible-with-Life.html Trisomy 13 is a genetic condition that often causes death either in utero or shortly after birth.  It is a devastating diagnosis for parents and my heart and prayers go out to all families who have dealt with trisomy 13 or will have to in the future.But, there is always hope.  There are children that survive with trisomy 13.  I found the Living with Trisomy 13 website yesterday and was encouraged and sickened all at the same time. The photo album of angelic faces of children with trisomy 13 is amazing.  And the testimonies of parents who have loved and lost children with trisomy 13 are truly beautiful.  I was encouraged by the strength and love of these families and sickened by the stories of the so-called "medical professionals" that they had to encounter.  On the Conside... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2274489 Wed, 18 Mar 2009 17:55:02 +0100 2274489 http://www.medworm.com/index.php?rid=2274498&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F762-Reporter-ponders-his-genetic-testing-results.html Randy and his spitI was sent this two part series on the Scripps Genomics Health Initiative by the author himself (Signed "Self-promotionally yours".  Thats a good one. I'll have to remember that.)  Randy Dotinga, along with 2,600 other people spit, a lot, into a tube and had their DNA tested for their risk for developing eighteen diseases.  I will let you peruse his thoughts but I wanted to point out something that often gets overlooked when a person get their test results.  In Part I, Randy muses: My genes don't know about my Ben & Jerry's addiction, the countless hours I've spent on the couch instead of a treadmill, or my aversion to tobacco.Sorry Randy, I think your genes probably do know.  Because it isn't just about what genes you have, it is about which genes are ... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2274498 Tue, 17 Mar 2009 00:12:29 +0100 2274498 http://www.medworm.com/index.php?rid=2260097&cid=t_103614_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=2249293&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F03%2F07%2Fnavigenics-what-my-genome-tells-me-to-do%2F A few months ago, Navigenics.com offered me to analyze my saliva sample and genome. I happily accepted the offer and was curious to see what they could tell me. After graduating from medical school, I will start PhD training in personalized genetics this September so I’m quite into this emerging field of medicine. I sent my saliva sample back to their laboratory this January and received the results in about 3-4 weeks. I clicked on View my results and saw what kind of risks I have for certain medical conditions such as glaucoma, heart disease, prostate cancer, Crohn’s disease or osteoarthritis (9 conditions all together). When I check one medical condition, I see something like that: They tell me my risk compared to the whole population. And how that medical condition is af... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2249293 Sat, 07 Mar 2009 19:15:28 +0100 2249293 http://www.medworm.com/index.php?rid=2249065&cid=t_103614_87_f&fid=34825&url=http%3A%2F%2Fwww.wesleyjsmith.com%2Fblog%2F2009%2F03%2Fpusing-eugenics-as-smart-science.html Bioethicist Jacob M. Appel, who has written that mentally ill people should not be denied the "opportunities" to commit assisted suicide, now pushes mandatory pre-implatation genetic testing in all IVF fertility treatments in order to weed out the unfit (my term) and for whom care would be expensive. But don't call it eugenics! From his column:The most obvious advantage of mandatory screening is that it will reduce the long-term suffering of the children who are spared disease. At the same time, preventing future cancers will certainly save tax dollars. These savings could be redirected toward researching new therapies and providing quality care for current patients. The money might also help to defer the enormous public costs of fertility therapy, coverage for which a growing number of st... Secondhand Smoke blogs http://www.medworm.com/rss/comments.php?id=2249065 Fri, 06 Mar 2009 18:00:00 +0100 2249065 http://www.medworm.com/index.php?rid=2240585&cid=t_103614_87_f&fid=34825&url=http%3A%2F%2Fwww.wesleyjsmith.com%2Fblog%2F2009%2F03%2Fpusing-eugenics-as-smart-science.html Bioethicist Jacob M. Appel, who has written that mentally ill people should not be denied the "opportunities" to commit assisted suicide, now pushes mandatory pre-implatation genetic testing in all IVF fertility treatments in order to weed out the unfit (my term) and for whom care would be expensive. But don't call it eugenics! From his column:The most obvious advantage of mandatory screening is that it will reduce the long-term suffering of the children who are spared disease. At the same time, preventing future cancers will certainly save tax dollars. These savings could be redirected toward researching new therapies and providing quality care for current patients. The money might also help to defer the enormous public costs of fertility therapy, coverage for which a growing number of st... Secondhand Smoke blogs http://www.medworm.com/rss/comments.php?id=2240585 Fri, 06 Mar 2009 18:00:00 +0100 2240585 http://www.medworm.com/index.php?rid=2241032&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F754-Using-genetics-to-personalize-cancer-treatment.html Cancer is a genetic disease.  Not the kind of genetic disease that you are thinking.  Cancer is caused by an accumulation of errors in DNA that take out a cell's natural growth control mechanism.  The cell divides out of control and cancer is the result.  Depending on which errors a tumor has, determines the genetic make-up of the cancer and the treatment that will yield the best result.  Testing the genetics of a tumor and tailoring the treatment accordingly is a new approach to cancer treatment.Massachusetts General Hospital has announced that they will do extensive genetic testing on nearly all tumors in new patients.  From Boston.com:Cancer doctors at Massachusetts General Hospital plan within a year to read the genetic fingerprints of nearly all new patients' tumors, a novel str... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2241032 Fri, 06 Mar 2009 15:56:54 +0100 2241032 http://www.medworm.com/index.php?rid=2222617&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F751-Is-early-genetic-test-for-Downs-good-or-bad.html Like all areas of genetic testing, it would be nice if the answer was a simple yes or no.  Unfortunately, this early genetic test, that looks at small amounts of fetal DNA floating around in the mother's blood, has some good and some bad.  Before we get to the ethical implications, let us look at the test itself.  Currently, the prenatal screening for Down Syndrome is not very reliable.  It consists of checking the mother's blood for levels of certain factors that can predict if she is carrying a Down Syndrome child.  This blood test is combined with ultrasound.  If both indicate that the fetus may have Down Syndrome then an amniocentesis can be done.  Amniocentesis can cause miscarriage and some doctors estimate that for every three Downs babies that are detected with amniocentesis... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2222617 Thu, 26 Feb 2009 17:29:43 +0100 2222617 http://www.medworm.com/index.php?rid=2210600&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F750-So-you-want-a-genetic-test.html There are more and more companies offering genetic tests directly to you without a visit to the doctor.  There will be more.  I expect that like drug ads on television, soon there will be ads selling you genetic tests while you are sitting on your couch, munching on chips and watching home improvement shows.  The American College of Medical Genetics (ACMG) has some recommendations for you if you decide to get a genetic test direct from a genetics company.  I have discussed all of these in some aspect on this blog, but I will add some more commentary and some links for those of you that want to read more.  From the Washington Post (recommendations of the ACMG in italics and bulleted):A knowledgeable health-care professional should be involved to reduce the risk of inappropriate testing... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2210600 Tue, 24 Feb 2009 23:31:47 +0100 2210600 http://www.medworm.com/index.php?rid=2205275&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F02%2F21%2Ffree-genetics-testing%2F Kevin Kelly at The Quantified Self informed us about a new opportunity for those who want to have their genomes at least partially sequenced for free: You can now get your genome sequenced (partially) for free by participating in a large-scale research program to try to correlate genes with disease. The Coriell Personalized Medicine Collaborative (CPMC) is being funded by charitable foundations, and they have money at present to sequence 10,000 volunteers. To get your genes sequenced for free there are several caveats. 1) You need to be over 18 2) You need to attend an educational session. At the moment these are only offered in Camden, New Jersey (near Philadelphia). They claim to be working on a mail-in version later. 3) You won’t get your gene code back. Instead you will only rece... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2205275 Sat, 21 Feb 2009 14:59:53 +0100 2205275 http://www.medworm.com/index.php?rid=2207706&cid=t_103614_167_f&fid=38271&url=http%3A%2F%2Frebeccascritchfield.wordpress.com%2F2009%2F02%2F21%2Fgenetic-testing-for-heart-attack-risk%2F Soon you’ll get your cholesterol and your genes tested for heart attack risk. Myocardial Infarction Consortium researchers looked at about 1 million different spots in the genomes, the frequency of the letters in the genomes in cases and controls. The genome-wide study identified nine spots associated with an increased risk of heart attack, six of which had been previously described. They showed that when you combined the information from the nine different spots, the 20 percent of the people who had the most unfavorable profile had a 2.25-fold greater risk of having a heart attack, compared to the 20 percent with the best genetic profile. This simple test could be use to determine if statins should be perscribed earlier in life. I also would like to think an unfavorable test would m... Balanced Health and Nutrition Rebecca Scritchfield's Blog blogs http://www.medworm.com/rss/comments.php?id=2207706 Sat, 21 Feb 2009 02:52:22 +0100 2207706 http://www.medworm.com/index.php?rid=2194940&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F740-Careers-in-Genetic-Counseling.html In case you are interested in a career in genetic counseling, (a profession that will become more and more in demand as the era of genetic testing continues) the Wall Street Journal has a great career profile: For Some Counselors, It's in the Genes  (Source: Mary Meets Dolly) Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2194940 Tue, 17 Feb 2009 16:09:58 +0100 2194940 http://www.medworm.com/index.php?rid=2182625&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F736-Oldest-human-hair-found-in-fossilized-poop.html I just could not pass this one by, because today, I need a laugh.  From National Geographic:National GeographicThe oldest known human hairs could be the strands discovered in fossil hyena poop found in a South African cave, a new study hints.Researchers discovered the rock-hard hyena dung near the Sterkfontein caves, where many early human ancestor fossils have been found.Each white, round fossil turd, or coprolite, is roughly 0.8 inch (2 centimeters) across. They were found embedded in sediments 195,000 to 257,000 years old.Until now, the oldest known human hair was from a 9,000-year-old Chilean mummy.The sizes and shapes of the coprolites and their location suggest they came from brown hyenas, which still live in the region's caves today.It's not clear which species the newfound human h... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2182625 Thu, 12 Feb 2009 16:23:25 +0100 2182625 http://www.medworm.com/index.php?rid=2150842&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FniC0Uc_RKKA%2F   After describing himself as an “unemployed geneticist”, Francis Collins now reveals that he has been “working night and day” with the White House transition for health and human services with Tom Daschle.  Now that that’s over, he is ready to discuss the progress that personalized medicine needs for it to move forward in a responsible way. Francis Collins, the public face of the human genome research and former director of the National Human Genome Research Institute, spoke to biomedical researchers, biotech execs and policy people at a meeting in Washington DC organized by the Personalized Medicine Coalition. "If we’re serious about preventive medicine, and using personalized genomics to inform that, we’re not going to change the genome," he s... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2150842 Sun, 01 Feb 2009 14:54:00 +0100 2150842 http://www.medworm.com/index.php?rid=2149663&cid=t_103614_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=2147605&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FnqZEs6b_tto%2F Red hair is among the rarest of hair colors, with only 1% of the population having that natural hair. I personally think red hair makes heads turn. Check out these natural red-heads: Julianne Moore, Lindsay Lohan, Sarah Ferguson, Marcia Cross and of course, Prince Harry (and great grannie Queen Elizabeth I). Auburn, ginger, bright orange, carrot-top:  they are all the same red hair, and most would be sharing the same gene. Some variants of the melanocortin 1 receptor (MC1R) gene are strongly associated with red hair. The gene codes for a receptor that is expressed on pigment cells in the skin (melanocytes). This receptor responds to a hormone that stimutats the production of the dark pigment eumelanin. So, if you have a variant of the MC1R gene that turns off the receptor, the pigm... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2147605 Fri, 30 Jan 2009 09:09:00 +0100 2147605 http://www.medworm.com/index.php?rid=2141405&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F01%2F28%2Fnavigenics-interview-annual-insight%2F In my post about the predictions for 2009 in genomics, I said Navigenics would rule the market even if its service was more expensive than the kit of 23andMe. Now I had a chance to do an interview about the scientific background of the service and I have already sent my saliva sample back to their lab so the results should arrive soon. Now, they came up with a totally new website, a new product and a lower price (read the press release). I’m always saying such genetic tests should be ordered by physicians. Well, here is an excerpt from the press release: Accessible through Navigenics’ website, the secure portal empowers physicians with a suite of tools including a single access point to all of their participating patients’ genomic information, along with learning tools and case s... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2141405 Wed, 28 Jan 2009 21:17:30 +0100 2141405 http://www.medworm.com/index.php?rid=2138220&cid=t_103614_136_f&fid=36032&url=http%3A%2F%2Fblog.healthtalk.com%2Fbreast-cancer%2Flife-with-breast-cancer%2Fthe-other-side-of-embryonic-stem-cell-research%2F It is hard to watch people suffer. I think most people are sensitive and empathetic to the pain of others. When something is available that can alleviate that suffering, or reverse a traumatic injury, or eliminate a condition that is debilitating, we want to support and grasp for it. That is the promise that our society is looking for in embryonic stem cell research. I truly understand that. As much as I want to see people healed and perfected, I personally struggle with that outcome coming at the expense of human life. I personally wonder about the ethics of sacrificing the one we have not seen for one we love. For me as a Christian that question has been answered; we treasure all life in all forms, including the unborn. My equality of man then extends to the point of conception. That mea... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=2138220 Mon, 26 Jan 2009 16:59:09 +0100 2138220 http://www.medworm.com/index.php?rid=2128970&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F720-Do-it-yourself-genetic-diagnosis.html Photo: Ye Rin MokAny reader of this blog knows that I am no fan of direct-to-consumer genetic testing.  It is great that we can know all kinds of things about our genetics by just sending a few hundred bucks and a Q-tip to a genetics company.  The problem lies in what those genetic sequences MEAN.  Unfortunately, in many cases even medical professionals have no idea.  Any genetic testing should be accompanied by credentialed genetic counseling, so bypassing your doctor's office in search of genetic answers may not always be wise.  I have written before about the pitfalls of only having part of the genetic puzzle and how that effects patients.Of course there are exceptions and this story of a father personally sifting through his daughter's genetic code looking for answers to her rare ... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2128970 Sat, 24 Jan 2009 03:58:34 +0100 2128970 http://www.medworm.com/index.php?rid=2104562&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FrWjz8N5fr_g%2F   Genetic tests for common medical conditions and disorders have become more in demand in the past years. The popularity increased even more when celebrities and universities began publishing their genetic information online, and direct-to-consumer genetic companies sprouted like mushrooms. Soon, genetic tests could become a common diagnostic tool at the doctor’s office. Getting access to our risk information is relevant to making informed decisions about our lifestyle. The hope is that if a person will understand his risk, say, for certain cardiovascular diseases, then he will take better care of himself to avoid getting the disease. And that’s where the shortcomings lie. Sue Friedman, executive director of the patient advocacy group Facing Our Risk of Cancer Empowered ... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2104562 Wed, 14 Jan 2009 19:01:03 +0100 2104562 http://www.medworm.com/index.php?rid=2096039&cid=t_103614_87_f&fid=35052&url=http%3A%2F%2Ffeeds.feedburner.com%2F%7Er%2FWomensBioethicsBlog%2F%7E3%2F507678575%2Fblog-post.html So: today's news reports that the first "cancer-free" baby has been born."What's this?" you ask. "Isn't it awfully rare for babies to have cancer?" Yep. Especially breast cancer, which is more common in older women. But the genetic test to identify known breast-cancer-causing mutations has been around for some time. Now, for the first time, it has been used as a prenatal test--technically, in this case, through preimplantation genetic diagnosis (PGD), which is testing embryos conceived through IVF prior to their being implanted in the uterus.Certain rare BRCA mutations greatly increase a woman's risk of breast cancer and ovarian cancer--so much so that some women with these mutations decide on prophylactic surgery to remove their breasts and ovaries. However, because these really bad mutat... Women's Bioethics Blog blogs http://www.medworm.com/rss/comments.php?id=2096039 Sun, 11 Jan 2009 23:01:21 +0100 2096039 http://www.medworm.com/index.php?rid=2096034&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F01%2F11%2F2009-predictions-in-personalized-genetics%2F Hsien-Hsien Lei shared her 2009 predictions about personalized genetics with us and that’s where I would like to leave a few comments. 1. 23andMe will begin selling their tests on drugstore shelves. I think they would be sued soon. 2. President Barack Obama will be offered genome sequencing. He cannot and mustn’t accept it. 3. Apple will launch iSEQ - instant DNA testing and analysis in a handheld device. I don’t think Apple will ever enter this market. 4. The first 10 participants in the Personal Genome Project will band together to be called Fantastic Ten. Each will reveal secret superpowers that are embedded in their DNA. That is a possibility. But if they think wisely, they will never do something like that. 5. The U.S. government passes laws to obtain DNA from all it... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2096034 Sun, 11 Jan 2009 22:06:05 +0100 2096034 http://www.medworm.com/index.php?rid=2092614&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2009%2F01%2F10%2Faccessdna-know-your-genetics%2F I’ve recently discovered AccessDNA on Twitter and I thought I should give it a try. On the main page, it says I should create my personalized report. Well, let’s do so. It asked me about the medical conditions that occurred in my family; environmental factors I have to face; tests I would be interested in, etc. And then I received the personalized genetic report; actually a list of genetic tests that might be useful for me. What can I do with that information? Yes, of course I want full genome scanning. But should this be my decision? Not the decision of my doctor? Just beacuse I reported to be of Caucasian descent, I should order genetic tests that cost several thousands of dollars? You know what? I would love to hear the opinion of Steve Murphy here. And yours!   ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2092614 Fri, 09 Jan 2009 23:10:48 +0100 2092614 http://www.medworm.com/index.php?rid=2084062&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F712-Ethics-of-Genetic-Testing-Part-2.html Previously, I wrote about the morally acceptable aspects of genetic testing.  There are many.  Now I want to talk about the unethical uses of genetic testing.Most of genetic testing is like money.  That is, it is neither moral nor immoral.  Money can be used for good or evil, but it in and of itself it is morally neutral.  Genetic testing simply provides information.  What is done with that information is where the ethical issues arise.  Clearly, if the information used from genetic testing is used to discriminate against an otherwise healthy individual, then that would be immoral.  There are endless scenarios of where the information provided by genetic testing goes very wrong.  I do not want to delve into this area of ethics because it would be like writing about the endless way... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2084062 Tue, 06 Jan 2009 19:04:38 +0100 2084062 http://www.medworm.com/index.php?rid=2074258&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F12%2F29%2Freal-time-gene-monitoring-and-family-trees%2F Medical News Today reported: Imagine having GeneVision: the uncanny ability to view the activity of any chosen gene in real time through a specially modified camera. With GeneVision, military commanders could compare gene expression in victorious and defeated troops. Retailers could track genes related to craving as shoppers moved about a store. “The Bachelor” would enjoy yet one more secret advantage over his love-struck dates. A new study in BMC Biotechnology correlates real-time gene expression with movement and behavior for the first time. The proof-of-concept experiment in fruit flies opens a new door for the study of genes’ influence on behavior. Sounds interesting, doesn’t it? With real-time gene monitoring, we could analyze the pathogeneses of diseases more ... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2074258 Mon, 29 Dec 2008 15:56:24 +0100 2074258 http://www.medworm.com/index.php?rid=2035834&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F12%2F13%2Fmy-generation-health-genetic-testing-first%2F There are many personalized genetic services nowadays, but I think only a few of them have a strong future (Helix Health, Navigenics and 23andMe). Now here is a new candidate, My Generation Health. Generation Health is a health management company that specializes in helping employers and other health care payors manage medical costs and improve their employees’ and members’ health by assuring optimal utilization of genetic testing. Just as pharmacy benefit managers (PBMs) arose in the 1980’s to help health care payors better manage their pharmacy expenditures, Generation Health recognizes the need for a genetic testing benefit manager to be a trusted third party that can help payors manage this increasingly complex field. Clients will realize value in several ways: Esta... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=2035834 Sat, 13 Dec 2008 22:05:05 +0100 2035834 http://www.medworm.com/index.php?rid=2017826&cid=t_103614_87_f&fid=35052&url=http%3A%2F%2Ffeeds.feedburner.com%2F%7Er%2FWomensBioethicsBlog%2F%7E3%2F477034875%2Fweek-in-review.html Embryo adoption reopens controversy. Back to the question of when does human life begin, and so what are our responsibilities toward all those frozen embryos out there.Sports gene test available for little kids. So little Johnny has the genes to be a sprinter, push him in that direction (whether he enjoys it or not)? One can also think of more disturbing uses, like using such a test for embryo election (excuse me, I’ve been in a reproductive rights course this semester, so these issues are top of mind!).Overseas clinical trials under the microscope—concern whether medical and ethical practices are being adhered to in developing countries. Out of sight, out of mind?Studies show arrogance and abusive behavior by doctors contributes tomedical mistakes, preventable complications, and even ... Women's Bioethics Blog blogs http://www.medworm.com/rss/comments.php?id=2017826 Sat, 06 Dec 2008 23:31:25 +0100 2017826 http://www.medworm.com/index.php?rid=2011157&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F710-Ethics-of-Genetic-Testing-Part-1.html I have found that many Catholics are confused about genetic testing and the ethical issues that surround it.  So I have decided to write a two part series on the ethics of genetic testing.Part 1: Genetic testing is not all bad. DNA11.comAnd yet many Catholics are wary of the Human Genome Project (HGP) and genetic testing, and the knowledge they provide.  Of course, there are serious ethical implications, but the HGP has provided a wonderful opportunity to prevent and even cure disease.  As genetic testing becomes more commonplace, we will have more information on diseases that one may be at risk to develop.  If discovered early enough, we can make choices to help prevent or delay the onset of that disease. A colleague’s battle with cancer is a good example of the use of genetic testin... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=2011157 Wed, 03 Dec 2008 22:02:10 +0100 2011157 http://www.medworm.com/index.php?rid=1984960&cid=t_103614_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2FrIzsMU6Hswg%2F More children with Down’s Syndrome are being born in the UK, according to today’s Times Online. Widespread screening was introduced in 1989, and led to a steady fall in new instances of Down’s syndrome. From 717 babies born with Down’s that year, the total decreased each year, to 594 in 2000. During the next six years the birth rate for children with Down’s rose by 15 per cent, reaching 749 in 2006, the most recent year for which figures are available from the National Down Syndrome Cytogenetic Register. It’s noted that, while most women who receive a prenatal diagnosis of Down’s Syndrome choose not to have the child, “many are now deciding to give birth.” Carol Boys, chief executive of the [Down’s Syndrome Association, had not expected the r... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1984960 Mon, 24 Nov 2008 19:36:48 +0100 1984960 http://www.medworm.com/index.php?rid=1964102&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FBuIMVNPbxjc%2F Did you know that Angelina Jolie is a distant cousin of Camilla the Duchess, Madonna, Shania Twain AND Hilary Clinton?   Man has an innate itch to find out where he came from, be it by evolution or ancestry. In a way it helps us connect with people from our past and gives us roots. So it’s no surprise that DNA testing for ancestry or population of origin has mushroomed in the past few years with the growth of direct-to-consumer companies. Now, the American Society of Human Genetics is concerned about the implications of carrying out such tests without guidelines and oversight. The society presented a recommendation paper to the academe, and to the 30 companies involved in ancestral genetics testing. Image credit: Newscom Some of those concerns include accuracy of markers use... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1964102 Sat, 15 Nov 2008 12:33:53 +0100 1964102 http://www.medworm.com/index.php?rid=1951970&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FiBEQ6gEpCqQ%2F I chanced upon this article - Genetic testing under the microscope - in the Los Angeles Times of an interview with the President of the National Society of Genetic Counselors, Angela Trepanier, and she presents an interesting perspective on the future of personalized medicine. In the near future, Trepanier says that genetic testing will become a routine part of healthcare. Right now, access to one’s genetic information can be had for at least $400, and one is able to find out which diseases and conditions your genetic makeup may be association with. But the company doesn’t offer any medical opinion or diagnosis, obviously. Trepanier asks rhetorically, "If your only source of information is the company selling the test, is that really the most credible source of informatio... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1951970 Wed, 12 Nov 2008 09:03:48 +0100 1951970 http://www.medworm.com/index.php?rid=1943401&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FQo5i_lhxjCc%2F   Now that accessing your genetic information is cheaper than buying a Google Smartphone, now what? What can you get from it? How can you use it? Just as important, but less asked - how do you protect it? The journal "Nature" joins the debate with a full online issue devoted to the personal genome revolution and its implications. For a fee or for free, you can squeeze more information out of the SNP data or full sequence you got from the commercial genome services you paid for initially. For example, you can get an idea of your risk for a certain disease. With so much information at your fingertips, is everything believable? Should you change your lifestyle because you have one variant for some disease risk? How many "risky" variants does one need anyway? Should y... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1943401 Fri, 07 Nov 2008 13:44:23 +0100 1943401 http://www.medworm.com/index.php?rid=1930290&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FIFbwFQYEgUQ%2F With all the growing excitement, hype and inquiry surrounding personal genome testing, I was wondering when the National Institute of Health would join the fun. With a $600,000 grant from the NHRGI, the Genetics and Public Policy Center of Johns Hopkins will begin conducting studies to understand the new direct-to-consumer genetic testing industry. And it’s about time. Tags: direct-to-consumer, gene testing, genetics and public policy, nhgri, research, riskShare This (Source: Genetics and Health) Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1930290 Mon, 03 Nov 2008 23:49:36 +0100 1930290 http://www.medworm.com/index.php?rid=1924526&cid=t_103614_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=1886447&cid=t_103614_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2FBwq1xI1iz5k%2F Researchers from the Seaver and NY Autism Center of Excellence at New York’s Mount Sinai School of Medicine have developed a new method to detect copy number variants associated with autism spectrum disorders and have also found new chromosomal duplications that can be linked to autism.The study is published in the October 16th BMC Medical Genomics. 279 child with ASDs were screened for micro-duplications and -deletions in regions of the genome that have been connected to other cognitive conditions. The researchers detected several previously known duplications associated with autism, but also some that had not previously been recognized. The approach that psychiatry researcher Joseph Buxbaum and his colleagues used is multiplex ligation-dependent probe amplification, or MLPA which, it&#... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1886447 Fri, 17 Oct 2008 16:43:20 +0100 1886447 http://www.medworm.com/index.php?rid=1883378&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FvRo_X15ST5A%2F Good news for the state of Illinois! Women who are at high risk for developing breast and/or ovarian cancer will receive insurance coverage under Medicaid. Genetic tests for BRCA1 and BRCA2, and counseling will be available for low-income women with a strong family history of breast cancer or previous cancer diagnosis, writes the Chigaco Tribune. Women with mutated BRCA1 or BRCA2 gene are 3 to 7 times more likely to develop breast cancer, and have a 16 to 60 percent lifetime risk for getting ovarian cancer than women without the mutations. Last year, about 22,000 low-income women enrolled in Medicaid were treated for breast cancer. Let’s hope other states follow suit, so more women with very little resources can have themselves tested. What’s not clear from the article, and ... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1883378 Fri, 17 Oct 2008 03:09:42 +0100 1883378 http://www.medworm.com/index.php?rid=1873107&cid=t_103614_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2FR4jlPirM3Kc%2F Currently, there’s no prenatal genetic test for autism. Long ago (as in “around the time I first started writing this blog”) I referred to such testing as “fighting word“: While some would welcome the notion of knowing that a child-to-be would have a disability, others have been quick to point out the possibility of people choosing to abort a fetus if a disability were detected. In the October 13th Babble, an online web community for a “new generation of parents,” Karen Dempsey writes about Choosing (a) Life: They said our baby would have Down’s; we said we understood. We had no idea. Having conceived her second child after a year of infertility treatments, Dempsey was concerned that the “risks of amniocentesis outweighed the chances it... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1873107 Tue, 14 Oct 2008 06:46:53 +0100 1873107 http://www.medworm.com/index.php?rid=1870865&cid=t_103614_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2008%2F10%2F12%2Fgene-genie-38-back-in-action%2F Gene Genie is the blog carnival of clinical genetics and personalized medicine. Enjoy the numerous posts and articles focusing on these interesting fields of medicine. We dedicate this carnival edition to genetic testing, SNP watch and DNA. Many thanks to Ricardo Vidal for the logo! Genetic Testing: Grace Ibay at Genetics & Health analysed whether genetic testing would motivate us to healthier life. Edward Farmer at DecodeYou posted about deCODE BreastCancer™, a genetic test to screen for risk of the most common forms of breast cancer. Edward Weinman introduced Jack Doughery, a deCODEme customer, to us. The Paternity Blog also covered this important topic. Lisa E. Lee at DNA Direct Talk had 3 great posts. Stool DNA testing; FDA Recommends Genetic Test Before Taking HIV/AIDS Drug; a... ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=1870865 Sun, 12 Oct 2008 16:30:49 +0100 1870865 http://www.medworm.com/index.php?rid=1868564&cid=t_103614_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=1865528&cid=t_103614_87_f&fid=35052&url=http%3A%2F%2Ffeeds.feedburner.com%2F%7Er%2FWomensBioethicsBlog%2F%7E3%2F416071933%2Fgene-testing-for-breast-cancer-hype-or.html WBP supporter and personable pundit Art Caplan explains in his most recent MSNBC column that biotechnology firms hope to cash in on women’s fear of the disease:Fear of breast cancer has created a tempting market for companies to sell genetic testing directly to consumers. The disease kills 40,000 people a year in the U.S., with an estimated 212,920 new cases diagnosed in 2007, according to the Mayo Clinic. It’s no wonder women would want a reliable gauge of their risk. However, American women should be aware that genetic tests for breast cancer are more hype than real hope. On Wednesday the biotech research company Decode Genetics of Reykjavik, Iceland, announced it will sell a new test for $1,625 that it claims will allow women “to assess their personal risk for the common forms of ... Women's Bioethics Blog blogs http://www.medworm.com/rss/comments.php?id=1865528 Thu, 09 Oct 2008 19:30:04 +0100 1865528 http://www.medworm.com/index.php?rid=1856096&cid=t_103614_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F5lxUIOcHXDU%2F There was one compelling reason why I opted out of genetic testing with my last pregnancy. The risk of miscarriage due to amniocentesis was the same as the risk of having a baby with Down Syndrome. Amniocentesis is considered the gold standard, but it’s an invasive procedure with a 1/100 risk for miscarriage, the same risk for Downs. I quickly realized I would rather give birth to a baby with Downs than be responsible for a miscarriage. Fortunately, now there is a new, totally non-invasive procedure for genetic testing of Down Syndrome. It only requires the maternal blood sample (basic blood draw) to spot chromosomal abnormalities in the fetus. Scientists from Stanford University utilized fetal DNA fragments in the mother’s blood and read the fragments using DNA sequencing. Wom... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1856096 Tue, 07 Oct 2008 08:08:23 +0100 1856096 http://www.medworm.com/index.php?rid=1829195&cid=t_103614_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2008%2F09%2F25%2Fa-genetic-counselor-responds-to-trigs-breakthrough%2F A recent editorial in the Washington Post, “Trig’s Breakthrough,” has caused a lot of discussion in the genetic counseling community. It uses Sarah Palin’s youngest child’s entry on the political stage as a platform to address genetic testing. Roxanne Ruzicka, a genetic counselor in Los Angeles and consultant to DNA Direct, sent a thoughtful commentary [...] (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=1829195 Thu, 25 Sep 2008 17:56:28 +0100 1829195 http://www.medworm.com/index.php?rid=1829194&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F675-The-Pre-natally-and-Post-natally-Diagnosed-Conditions-Awareness-Act-Passes.html A mouthful, but certainly a step in the right direction. From LifeNews:On Tuesday, the Senate passed a bill via unanimous consent that is designed to help reduce the number of abortions of babies with Down syndrome and other conditions....The legislation would require giving families who receive a diagnosis of Down syndrome or any other condition, pre-natally or up until a year after birth, pertinent helpful information.The information would include facts about the condition and connections to support services and networks that could offer assistance in raising a disabled child.Sen Sam Brownback, a pro-life Kansas Republican and co-sponsor of the bill, told LifeNews.com he's glad the Senate approved it.“This bill will greatly benefit expecting parents who receive the sometimes overwhelmin... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=1829194 Thu, 25 Sep 2008 15:19:29 +0100 1829194 http://www.medworm.com/index.php?rid=1825769&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F674-Genetic-tests-for-children.html Genetic testing is a very powerful tool. Done properly with the right counseling, it can mean healthier and prolonged lives for many patients. For example, variations in the BRCA gene are a predictor for breast and ovarian cancer. Men and women with a family history of breast and ovarian cancer often want to get tested for this variant. If they test positive, many will alter their behavior, like quiting smoking or halting the use of birth control pills. Some will even under go prophylactic surgery removing breast and ovarian tissue to prevent the development of cancer.Usually these patients are consenting adults who are over 25. They can understand the implications and act appropriately. But what if a parent tests positive for a inherited predictive gene and wants to test their child? Is 1... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=1825769 Wed, 24 Sep 2008 15:32:59 +0100 1825769 http://www.medworm.com/index.php?rid=1806321&cid=t_103614_131_f&fid=34999&url=http%3A%2F%2Fwww.marymeetsdolly.com%2Fblog%2Findex.php%3F%2Farchives%2F671-Search-and-Destroy-mission-for-Down-Syndrome-fetuses-effects-normal-fetuses-too.html UK doctors are estimating that two normal fetuses are miscarried for every three Down syndrome fetuses that are detected. Here is a perfect example of genetic testing gone horribly wrong. Genetic testing can be a positive thing, except when it is used for a "search-and-destroy" mission. From the Telegraph:Two healthy babies are miscarried for every three Down's Syndrome babies that are detected and prevented from being born, research has suggested.The losses are down to the invasive methods used to test for the condition, which affects approximately one in every 1,000 babies conceived, the researchers claim.If an expectant mother is deemed to be at risk of carrying a Down's baby following a blood test, she will then go on to undergo an amniocentesis and chorionic villus sampling ... Mary Meets Dolly blogs http://www.medworm.com/rss/comments.php?id=1806321 Thu, 18 Sep 2008 22:48:28 +0100 1806321 http://www.medworm.com/index.php?rid=1802743&cid=t_103614_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2008%2F09%2F17%2Fwarfarin-sensitivity-iverson-genetics-and-personalized-medicine-on-npr%2F Last week, NPR’s “Morning Edition” did a story on the way companies and entrepreneurs are beginning to develop and market products tailored to the genetic makeup of individual patients. Notably, the story featured Iverson Genetic Diagnostics and their test for warfarin sensitivity. Warfarin (brand-name Coumadin®) is a commonly used blood-thinner, but doctors often have a hard [...] (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=1802743 Wed, 17 Sep 2008 21:12:31 +0100 1802743