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.