A 20-year study to be launched on Thursday will seek to answer a key question about people who learn their genetic risk levels for developing medical conditions like diabetes, cancer or Alzheimer's disease:What do they do after they receive that information?
Individualized reports about genetic disease risk are now directly available to consumers through personal DNA scans from companies such as Navigenics Inc., 23andMe Inc. and decode genetics Inc.
It is unclear whether the information actually prompts consumers to improve their health behavior, causes significant anxiety and unnecessary use of health-care services, or has no impact at all.
Researchers also will see if individuals learning they have low genetic risks feel they have received a "free pass" and reduce their healthy behavior.
"There has been a lot of conjecture about the potential benefits to individuals and how they may change their behaviors" after getting personal DNA data, said Kathy Hudson, director of the Genetics and Public Policy Center at Johns Hopkins University.
"The dilemma is, we don't know how consumers will respond," said Dr. Hudson, who isn't involved in the new research but studies such direct-to-consumer genomic tests.
For the first time, a large, 10,000-participant study, funded by a research group and three health-care and technology companies, Navigenics, Affymetrix Inc. and Microsoft Corp., will examine individuals' long-term psychological reactions and behavior change -- or its absence -- resulting from receiving individualized risk information.
"Anecdotally, it looks like some people are benefiting but this [study] is the only way to demonstrate this once and for all," said cardiologist Eric Topol, principal investigator of the study and director of the Scripps Translational Science Institute, which conducts research bridging basic science and clinical trials.
Participants will complete a questionnaire about a wide range of health behaviors at the start of the study before they receive their genetic disease risk results.
They will report their psychological and physical response to this information after three months and at the end of the first year, then annually or once every two years for the next 19 years.
As with many studies of this type, results will compare participants' behavior after they receive their results to their initial health behaviors, rather than a random comparison group.
There is a chance that the participants, who will be recruited through the Scripps Health system, won't be representative of the broader American population, because anyone who is already involved with a health-care system and chooses to enroll in this study may be more health-conscious than the general public, according to Dr. Topol.
Investigators hope to complete recruitment by the end of the year and report some results as early as mid-2009.
Participants will receive Navigenics' $2,500 test at a steep discount of $150 to $250, according to Vance Vanier, chief medical officer of Navigenics.
Affymetrix will run the genome scan and Navigenics will provide interpretation of the results to the participants.
Individuals' data will be available on Microsoft's Health Vault, a Web-based electronic medical-record system launched last year.
"It's intended to be the foundational study of preventative genomic medicine," said Dr. Vanier.
