Friday Links

Over at 23andMe’s blog The Spittoon, Stanford genetics professor Uta Francke has a great point-by-point dissection of the new policy statement of the European Society of Human Genetics on direct-to-consumer genetic testing. Francke doesn’t shirk from explaining that this statement should be seen in the context of an ongoing turf war between traditional geneticists and DTC upstarts:

For example, organizations like ESHG, the American Society of Human Genetics (ASHG), and the American College of Medical Genetics (ACMG) were created to represent the interests of their professional membership, similar to the American Medical Associations (AMA) for physicians. Any claims to act in the public interest by protecting people from potentially damaging genetic information may reflect a fear of the new consumer-driven healthcare system that, as in the case of DTC genetic testing, may circumvent the professional establishment. Insisting on individual professional counseling in the pre-testing and post-testing phase can be interpreted as an attempt to ensure continued involvement of board-certified genetics professionals. [DM]

In PLoS Genetics, researchers report that a SNP associated with risk for colorectal cancer likely exerts its effect by modifying the expression level of a nearby gene. Previous studies on a different region associated with both prostate and colorectal cancer revealed a similar mechanism (see here, for example). This contributes to growing molecular evidence that SNPs with long-range regulatory effects might be generally important in disease. [JP]

Kevin Davies’ superb new book The $1000 Genome is now available on Amazon. Keith Robison has already posted his review, and I’ll have my full thoughts here on Genomes Unzipped soon – but for now I’ll just say that Davies’ long and extensive experience working the genomics beat really pays off, with both a wealth of inside information and juicy anecdotes about the key players in the field. Well worth a read for anyone interested in modern genomics (i.e. everyone reading this post). [DM]

Dan Koboldt of MassGenomics has a useful review of the recent Cold Spring Harbor Personal Genomes meeting. He pulls out four key themes emerging from the conference: new estimates of human mutation rates, more sequencing of cancer genomes, studies of genome regulation and epigenetics, and an explosion of exome sequencing in both severe and common diseases. [DM]

Our own Dan Vorhaus reports on the utterly bizarre decision by Health and Human Services (HHS) Secretary Kathleen Sebelius and NIH Director Francis Collins to discontinue the Secretary’s Advisory Committee on Genetics, Health, & Society (SACGHS). Inexplicably, Sebelius and Collins argued that “the major topics related to genetic and genomic technologies had been successfully addressed by the committee through its comprehensive reports and recommendations over the years”. Vorhaus notes diplomatically that “it is clear that even those issues SACGHS investigated in detail have not been resolved with any meaningful degree of finality”. [DM]

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