Personal utility vs clinical utility

Dan Vorhaus has a great post in Genomics Law Report outlining recommendations made by a recent NIH-CDC workshop on the scientific foundations of personal genomics. The workshop included key stake-holders from academia, policy advisory groups and the personal genomics industry.
The recommendations from the workshop seemed on-target to me, and I was particularly pleased to see explicit recognition of the notion that consumer genomics may provide personal utility even if its clinical utility is marginal - in other words, that genetic information can still have a positive effect on a person's life even if its direct health benefits are small or non-existent. The workshop proposed the generation of objective metrics to assess the personal utility of personal genomic tests, which seems as though it would be challenging but valuable.
In a previous life I worked in a lab providing molecular diagnoses for children with muscular dystrophy, and it was clear from discussions with clinicians there that a formal genetic diagnosis could have massive emotional benefits for patients and their families, even when it made no difference (or even worsened) the patient's clinical prognosis. It will be very interesting to see the degree to which this also applies to the higher-uncertainty information provided by genomic risk profiles for common diseases.

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Several articles with a personal genomics theme popped up today. Most importantly, this piece in the Times by Mark Henderson is a superb analysis of the current state and likely future of the personal genomics industry, and a must-read for anyone interested in the field. Henderson notes that…
The brief Golden Age of direct-to-consumer genetic testing - in which people could freely gain access to their own genetic information without a doctor's permission - may be about to draw to a close. In a dramatic week, announcements of investigations into direct-to-consumer genetic testing…
The UK House of Lords Science and Technology Committee has published the long-awaited report (PDF) from its inquiry into genomic medicine. Mark Henderson at The Times has been busy today, putting out three excellent pieces on the report: a summary of the major implications, an opinion piece…
Francis Collins, former Director of the National Human Genome Research Institute, in a presentation last week (as reported by GenomeWeb Daily News): He also said that he is "delighted" that direct-to-consumer genetic testing services are being offered, even though the field "has become a favorite…

Two cheers for common sense!

People spend more money on video games for God's sake. People need to quit bitching about 23andMe.

By Paul Jones (not verified) on 19 Aug 2009 #permalink