Research Agenda for Personalized Genomics

While a number of companies are now marketing genetically based risk profiles directly to consumers for a range of common diseases, the clinical utility of this information-and its impact on the behaviour of those receiving it-is poorly understood.

Colleen McBride and colleagues outline the range of questions that need to be answered by interdisciplinary teams of researchers before personalized genomics can reasonably be expected to improve public health. These questions include, but are not limited to: how can the clinical utility of genetic tests for common, complex diseases be defined when our knowledge base is changing so rapidly? How should individuals be educated about the limitations of genetic testing? What is the potential impact of this information on individuals, especially in light of the fact that, for most people, these test results will suggest only a modestly elevated (or reduced) risk of disease?

The authors also discuss their own research project, the Multiplex Initiative, which has been underway since the spring of 2006. The aim is to recruit 500 individuals whose genomes will be analyzed for 15 genetic risk variants that are firmly associated with increased risk for eight common diseases or conditions. Interactions between counsellors and participants should produce a rich social and behavioural science database that can be used to inform doctors and patients alike as we move into the era of personalized medicine.

Author contact:

Colleen McBride (National Institutes of Health, Bethesda, MD, USA)
E-mail: cmcbride@mail.nih.gov

Abstract available online.

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza