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 'complete genomics'. Sat, 03 Sep 2011 02:54:27 +0100 http://www.medworm.com/index.php?rid=3538090&cid=t_206209_87_f&fid=39187&url=http%3A%2F%2Fgetbetterhealth.com%2Fdo-you-own-your-genome%2F2010.05.06 As the costs of sequencing our DNA shrink and the roles of digital media in our lives expand, we will need to understand who (or what) controls the ownership, access and use of our genomic information. From state regulation to Google to Facebook, who controls the acquisition, transmission and replication of our genomic information and material will become an important battle in the 21st century. (more…) *This blog post was originally published at Phil Baumann* (Source: Better Health) Better Health blogs http://www.medworm.com/rss/comments.php?id=3538090 Thu, 06 May 2010 14:00:11 +0100 3538090 http://www.medworm.com/index.php?rid=3111605&cid=t_206209_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F11%2Flong-qt-syndrome-location-matters_1427.html I just saw a family who had Long QT with a KCNQ1 mutation ripping through them. Which is why I loved this email I received from one of my long time readers the day after I saw them.Closer Look at Genetic Testing in Long-QT syndromeOne of my favorite lines from this paper was"Nothing tests the tools of clinical risk prediction quite like sudden death."Ummmm......Uh Huh.They go on to say"The difficulties encountered in the clinical application of genetic data, even in inherited conditions such as the long-QT syndrome (LQTS), in which the transmitted risk of sudden death is several hundred-fold greater than that in the general population, highlight some of the hurdles that must be overcome if DNA diagnosis is ever to transform cardiovascular medicine. "The reader then went on to send me a rel... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=3111605 Mon, 09 Nov 2009 14:47:00 +0100 3111605 http://www.medworm.com/index.php?rid=2606153&cid=t_206209_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F07%2Ftruvalue-is-coming-valuation-of-gmg.html Valuation, it is a fickle beast. I love this post from AskTheVC.comValuation – especially for early stage companies – falls in the category of “more art than science.” While buyout investors who are acquiring companies with meaningful cash flow streams love their multi-sheet Excel models with 37 pivot tables, most early stage VCs can do valuations on a napkin (or – if they are good at simple math (e.g. addition and subtraction) – in their head.) In the early stages three things drive valuation: (a) ownership dynamics, (b) market terms, and (c) competitive deal dynamics. Remember Again - this is art - there is no scientific way to really value three guys and a powerpoint slide or a web service with 10,000 subscribers of which 250 are active (although no one can prove that only 2... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2606153 Thu, 16 Jul 2009 11:55:00 +0100 2606153 http://www.medworm.com/index.php?rid=2561483&cid=t_206209_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F07%2Fno-gene-is-island.html This is a saying I have been using for about 4 years now.When someone asked about testing for HFE and why we don't do it as the first screening step anymore..... They often looked at me confused.....I then bring up the case of sickle cell disease.Most doctors have seen a sickle cell patient in the hospital.......They may have even seen a family in the hospital, brother and sister, Son and Mother......but what most don't know is that the majority of sicklers never go into the hospital..... That's when I ask, what is the mutation that the son and mother have? The answer Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position. Now what about the patie... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2561483 Wed, 01 Jul 2009 12:08:00 +0100 2561483 http://www.medworm.com/index.php?rid=2323373&cid=t_206209_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fpersonal-health-record-vital-to.html I am a huge proponent of Personal Health Records. What is a PHR? Let me first tell you what a PHR is not.A PHR is Not1. An electronic medical record2. An always secure way to store your health information3. Always compatible with other software.I admitted a woman the other day to the hospital. She wasn't a patient of ours at Helix Health, instead she was a patient of a group who we were covering. In the ED she handed me 7 pages of (typed in Times New Roman as a Word .doc), her Health Records. It didn't have lab values nor did it have all the exact results of the studies which she had. Instead this was HER record of everything that had happened to HER medically. It was written through HER interpretation, misspellings and all. I wondered how long it took her to compile this information. I im... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2323373 Mon, 30 Mar 2009 12:13:00 +0100 2323373 http://www.medworm.com/index.php?rid=2295293&cid=t_206209_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F03%2Fyales-healthcare-2009-conference-and.html I am preparing to speak at Yale School of Management's Healthcare 2009 conference. It looks to be quite a conference. The theme this year will be "Where is the Value? Managing Cost and Quality in a Healthcare System Facing Reform."From the site:The Yale Healthcare Conference is a joint effort between the School of Management and the Health Professions Schools at Yale University that aims to bring together professionals, academics, and students to engage in an instructive interdisciplinary conversation concerning current healthcare issues. This will be the 5th consecutive year and we expect the conference to continue growing to over 400 participants. The planned title and theme for Healthcare 2009 is Where is the Value? Managing Cost and Quality in a Healthcare System Facing Reform. This co... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2295293 Fri, 27 Mar 2009 15:34:00 +0100 2295293 http://www.medworm.com/index.php?rid=2173430&cid=t_206209_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2009%2F02%2Fdont-take-my-kodachrome-away.html Do you remember when you had to send your film to Rochester NY or Ohio to get developed......you would stop by the store check your last name.........Nope......sorry no pictures yet!! Even the thought of keeping that little tear off tag drove me nutty!It was exciting, but it also was a huge pain in the a$$......What if the pictures were screwed up, you would have to send your negatives back so that they could get run again.........That being said, Kodachrome is the gold standard of photo film, but that is so 1980s. In fact, there is only one processor of Kodachrome in the entire US left other than Kodak of course......These guys had a great economy of scale with the processing centers and in fact it made a very nice business model for a while until Kodak discontinued Kodachrome......Well i... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2173430 Mon, 09 Feb 2009 02:42:00 +0100 2173430 http://www.medworm.com/index.php?rid=2053180&cid=t_206209_131_f&fid=35743&url=http%3A%2F%2Fthegenesherpa.blogspot.com%2F2008%2F12%2Fouch-cnv-with-lackluster-results.html All it takes is 2 seconds to step on some of my readership's toes and I feel it. Yesterday I posted on a 5% error rate for Whole Genome sequencing, I argued that even at 30x coverage it would not be ready for clinical diagnosis. I had CEOs of sequencing companies emailing me and VPs calling me. I even had pound for pound one of the best bloggers in the space say he was embarrassed for me.....Ouch!Why do I get pushback from people, when all I am doing is throwing some cold water on the party??? Get ready, because I am about to throw some more.....Remember yesterday when I said SNPs were one of 7 or 8 factors that will differentiate each of us??? Well, CNVs are another of those 7 or 8, 2 more include histone modification and methylation, telomerase activity and size would be another factor, ... Gene Sherpas: Personalized Medicine and You blogs http://www.medworm.com/rss/comments.php?id=2053180 Fri, 19 Dec 2008 11:06:00 +0100 2053180 http://www.medworm.com/index.php?rid=1870869&cid=t_206209_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FdUNDxsv4sLk%2F Complete Genomics launched this week with an announcement to provide a person’s entire genetic sequence for $5,000 each. The company’s ultimate goal is to sequence 1 million complete genomes, or 1,000 people each in 1,000 disease studies, in the hopes of revealing the genetic basis behind major human diseases. From a scientist’s point of view, this is exactly the data and perhaps sample size we need to study the role of genetics on development and cause of disease. It would be a nightmare to analyze, but it won’t be for lack of data, if the sequence will be made available across different studies. But it’s another story from an individual’s point of view. Having a complete sequence of one’s genome will identify all the genetic mutations and alleles... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=1870869 Sun, 12 Oct 2008 13:18:49 +0100 1870869