"Preparing for a Consumer-Driven Genomic Age"

The current issue of The New England Journal of Medicine 363:12 September 16, 2010, starting on page 1099, has a provocatively titled article, "Preparing for a Consumer-Driven Genomic Age". The authors of this article are James P. Evans, M.D., Ph.D., David C. Dale, M.D. and Cathy Fomous, Ph.D. The web page version can be viewed or a PDF version downloaded.

To my knowledge this is the first open discussion of direct to consumer (DTC) genetic testing to be widely broadcasted within the medical establishment. Earlier were restricted to blogs and listservs which were only available to those insiders who subscribed.

Evans, Dale and Fomous raise many import questions including,
"How can we maximize the benefits of these new developments and minimize the harms?
How can we encourage patients’ involvement and autonomy yet establish appropriate safeguards while avoiding inappropriate paternalism?"

They continue,
"Direct consumer involvement in the genetic revolution is to be welcomed, but consumers must be protected from unrealistic claims and misinterpretations of complex, dynamic genomic information. Numerous studies indicate that most primary care providers struggle to interpret single-gene tests...and are unprepared for the genomic age."
They conclude,
"We must ensure that rapidly
evolving and multiplying genomic technologies are responsibly harnessed and that their promise is not oversold to the public. It will be important to continue to advocate for rigorous evaluations of the clinical validity and utility of genomic tests, as well as for adequate regulation that simultaneously preserves innovation."

This article wraps around parallel article entitled "Risks of Presymptomatic Direct-to-Consumer Genetic Testing" by Justin P. Annes, M.D., Ph.D., Monica A. Giovanni, M.S., C.G.C., and Michael F. Murray, M.D. This second article can be view if you choose the PDF version of the previous article.

Annes, Giovanni and Murray begin with
"Geneticists have long cited the risks of direct-to-consumer (DTC) genetic testing, highlighting the danger for consumers who make complex medical decisions without adequate clinical guidance."
They conclude with,
"The potential harms of DTC genetic testing include the loss of protections for patients offered by established health care delivery systems (e.g., doctor–patient confidentiality and beneficence), invalid analytic or clinical results from medical devices, and population screening without consensus on interpretation and follow-up. These risks must be balanced against the potential benefits of innovation."

I hope you will want to read these timely articles in their entirety. They are not long or overly technical. Because of their timing they will help define the debate over DTC genetic testing.