Friday Links

Clinician Jacob M. Appel has a refreshing take on direct-to-consumer genetic testing – unlike many of his stethoscope-wielding brethren he rails against the idea that members of the public shouldn’t have access to their genetic information without the supervision of a medical professional:

The underlying belief of DTC opponents is that laymen are incapable of handling their own genetic information without the assistance of physicians. As a physician myself, I cannot help but fear that this approach smacks of the worst aspects of medical paternalism. We may soon find ourselves living behind a genetic Iron Curtain whose drawstrings are held by a cadre of white-coated Platonic guardians. Despite the public triumphs of the genetic revolution, our genetic liberties are slowly and silently slipping away.

Let’s hope this attitude catches on. [DM]

SNPedia’s Mike Cariaso discusses the present and future of personal genomics in a brief op-ed piece in Bio-IT World, which ends on an optimistic note:

While there is considerable trepidation at the marketing of genomes, I’ve been pleasantly surprised by the nearly universal consensus that you have a fundamental right to your genome. The biggest reluctance comes from those who want you to have the data, but only after they tell you what it means for a reasonable fee. But the head of the NIH, Francis Collins, has said, “free and open access to genome data has had a profoundly positive effect on progress.” FDA regulations may curtail the marketing, but it seems increasingly unlikely to limit the fundamental availability of personal genomes for the masses. The learning curve is still steep and much uncertain remains, but the path seems safe with no fundamental barriers to continued progress in all directions. [DM]

23andMe’s Joanna Mountain has a great post summarising the key messages for personal genomics from the presentations at the recent American Society of Human Genetics meeting. [DM]

Genetics chairs across the US read this Nature news piece carefully, which outlines new strategic directions for NHGRI.  We should expect that 15-20% of the current budget for large scale sequencing centers will be reallocated to three areas in the next funding cycle: analysis of Mendelian disease, clinical use of sequencing to guide treatment of difficult cases, and development of more user-friendly software for analysis of next-gen data. The clinical emphasis of these new priorities echoes other exciting developments for sequencing centers in other countries, such as the Wellcome Trust Sanger Institute’s DDD project. [DC]

Over at Genomics Law Report, Unzipper Dan Vorhaus reports from the recent Partners Healthcare Personalized Medicine Conference. The conference included real-time polling of the audience on various topics, including this highlight:

46% of the audience said they would wait until the price of whole-genome sequencing (WGS) dropped to $100 before taking the plunge. 30% would be buyers at $1,000, 9% thought $0 sounded more reasonable and a full 15% answered that they weren’t interested in a whole-genome sequence at any price. Panelist Mark Boguski (Beth Israel Deaconess Medical Center) joked that the audience was “cheap” but, given the rapid decline in the cost of WGS, “patient” may be a better adjective. By way of comparison, at last year’s conference 59% answered that $100 was their preferred price point, with only 10% declining WGS no matter what the price. Is it possible that some people are are getting cold feet as the prospect of actually having their own genome sequenced becomes more realistic? [DM]