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Scripps Genomic Health Initiative
Initiated in 2008, the Scripps Genomic Health Initiative (SGHI) is the first large-scale and long-term evaluation of the attitudes and perceptions of consumers who have purchased a commercially available personal genomic risk assessment test. A total of 3,630 consumers, whose ages range from 18 to 85 years, agreed to participate in the study.
Over a 20-year period, SGHI will determine whether personal genomic testing improves health by motivating people to make positive lifestyle changes, such as exercising, eating healthy and quitting smoking, and to obtain medical check-ups and tests.
“Our study prospectively evaluates the effect that state-of-the-art gene scans have on people’s lifestyles, behaviors, diets and psyches,” noted Eric J. Topol, M.D., Director of the Scripps Translational Science Institute (STSI).
Each study participant provided a saliva sample for the direct-to-consumer test, which scanned the individual’s DNA code for markers that have been previously linked to potential disease risk estimates.
Before the participants received their genomic risk assessment test results, baseline evaluations were conducted. At three- and 12-month intervals, STSI scientists track the participants’ lifestyle via their responses on a self-reported health assessment questionnaire. Participants have agreed to conduct periodic health surveys over the next 20 years so that their behavioral response to genomic risk assessment can be evaluated longitudinally.
In addition to STSI and Scripps Health, co-sponsors of the study include Navigenics, Inc., Affymetrix and Microsoft Corp. Navigenics provided its personal genomic risk assessment tool, the Navigenics™ Health Compass, at a discounted rate to SGHI participants. Affymetrix scanned each participant’s DNA code, and Navigenics interpreted the scan results. Study participants read their test results on a secure web site. Because SGHI participants can enter and store clinical and lifestyle information in private Microsoft HealthVault™ accounts, they have the option of managing their personal health information in one location and sharing it with their health care providers.
A secure database of SGHI’s genomic and clinical information is being assembled at the Scripps Genomic Medicine program. To protect the privacy of the study participants, their test results and responses to the self-questionnaires are encoded, encrypted and not labeled with personal information.
For more information:
The Economist, Aug. 12, 2010:
http://stsiweb.org/index.php/news/detail/the_economist_personal_genetic-testing_industry_is_under_fire_-_aug._1
Scripps Health news release, Oct. 9, 2008:
http://www.scripps.org/news_items/3300-landmark-study-launched-to-assess-impact-of-personal-genetic-testing
