Gene Genie #17 and 10,000 visitors

What a crazy 5 months. It has seen the growth of the DNANetwork from 3 to nearly 30. We have seen the release of Jim Watson AND Craig Ventner's genomes. Mike Leavitt has put a manifesto for personalized medicine into the hands of practitioners, scientists, and venture capitalists everywhere. Including the funding behind 23 and Me, Navigenics, and a yet to be named third genome sequencing company. Speaking of the government, they have pledged silly amounts of money to epigenetics, creating a Genes, Environment, and Health Initiative. Sequenom has jumped in the game by licensing next-gen technology including nanopores. Oh and George Church has made his personal genome project the world's project. I am sure I a missing a ton, but I am sure you all will point that out :)

I love the gene genie, thanks to Rick Vidal we have a lovely logo too.

Before I begin, I want to thank all of you who contributed and apologize to all whom I missed. Things have gotten pretty crazy for the Sherpa and I have to thank all of my readers, including my new friends at Genome Technology Online and the 10,000 people who have viewed my blog.

The FDA put a subtle ultimatum on primary care doctors. Learn the genetics of coumadin metabolism or learn how to testify in court. Another interesting ultimatum in genetics was studied and Future Pundit captures it. Swedish Twins play the ultimatum game more similarly than non-genetic related twins.

So why do the physicians need to learn genetics PDQ? Coumadin has some pretty serious adverse effects including making you bleed into your intestines, or even worse, the closed space known as your head. It seems that the Walter over at HighlightHealth feels this an important topic too, as he covers the International Serious Adverse Events Consortium. The FDA and pharma companies will no begin to track ADEs event better and will attempt to identify even more genetic causes. Even I point out that ADEs can have devastating causes, especially when the drug intended to prevent suicide causes it.

Before I ramble on about the wonders of pharmacogenomics and personalized medicine any further, there is some significant basic science going on. Exciting science, I would dare say.

Evolgen is publishing some original research on a blog. That is what I call hot off the press.

In a revisit of what is old is new, we some some more research on telomeres and longevity at Ouroboros. Sandwalk covers the Signal Recognition Particle and some new research, and expounds on this signal hypothesis' clinical relevance.

Over at Gene Expression we learn that skin color differences are our least complex. "Based on the average pigmentation difference between European-Americans and African-Americans of about 30 melanin units, our results suggest that SLC24A5 explains between 25 and 38% of the European-African difference in skin melanin index"

To my great delight I have discovered that Scriver's has a blog and now I know we may have a cure for hypohidrotic ectodermal dysplasia in dogs. I will follow this blog more closely and it is now proudly in my RSS feedreader.

As I warn my fellow internists about the stampede of attorneys waiting to sue them for what old-school physicians may call idiosyncratic reactions, we are reminded that perhaps a little legal oversight is a good thing.

Maybe the UK could use a little more oversight as it approves pre-implantation genetic diagnosis for early onset alzheimer's disease. Hsien at Eye On DNA points out something that may have been taken care of by face to face genetic counseling. "Although I’m not questioning this couple’s very personal choice, I do wonder why they are going through PGD without knowing the potential father’s genetic status. If he tests negative, he can rest assured that his children most likely won’t develop early-onset Alzheimer’s and they would not have to go through PGD. However, if he tested positive, he’d be in the same situation of considering PGD. I understand the psychological implications of genetic testing, but what is the rationale behind this choice?" Of note CGCs don't do face to face counseling in the NHS. I recently learned this from a soon-to-be Helix Health of Connecticut CGC

These sets of issues were anticipated at the outset of the Human Genome Project but would they have anticipated the support of Barak Obama, Mike Leavitt and a little sleeper company known as Microsoft?

Well few would have been able to guess what is now transpiring. The report from HHS points out several things that need to be accomplished. All which I am proud to say have been posted on by our humble little network. The goals

Goal 1: Link Clinical and Genomic Information to Support Personalized Health Care

Goal 2: Protect individuals from discrimination based or unauthorized use of genetic information

Goal 3: Ensure the accuracy and clinical validity of genetic tests performed for medical application purposes

Goal 4: Develop common policies for access to genomic databases for federally sponsored programs

Goal 1 aims to be accomplished by Health IT. Well, they have a long way to go. Certain EMRs had no ability to distinguish maternal from paternal lineage. Hopefully Microsoft's vault will be better...BBGM doubts it and so does Constructive Health Health IT must come a long way before we can really start to appreciate its help in creating personalized medicine. How ever wil the hold our genome in their databases. This is priceless data unless you paid 100 USD while you wait. Thanks to Blaine at the genetic genealogist for this. But wait, it gets better. Illumina's CEO carries his genome on his iPhone. He either must be extremely rich and not worried about life or health insurance or he is just stupid. Thanks to Clinical Cases for this. It reminds me of when we have nutrigenomic data floating around in spiral bound report books. This stuff is privite health info PEOPLE!!!! Get a grip!

Which leads me to goal 2. How is GINA doing?

Ideally we would like to have tools such as the Connectivity Map churing in out data, but the demand on IT is probably too much. But we can at least do some neat things with genetic profiling as demonstrated at the Biotech Weblog.

Goal 3 has significant amounts of infrastructure to help with this.

And Goal 4 can be pursued through international collaboration. I look forward to the day when Berci Mesko and I can do just that. He makes comment on these things on his award winning blog.

But, alas I am brought back to reality by this post at Epidemix. Applicabilty is in the eyes of those who can behold it. Why would someone who never saw an HDL of less than 10 think of a disease that they were never taught? I guess to the non-genetically trained, personalized medicine is no big deal.

What a crazy state of affairs we have. I look forward the next 5 months and the next 10,000 new readers of the Sherpa.

Thanks for letting me host Gene Genie.

Stay tuned for the next issue of Gene Genie at Eye on DNA