Landmark Research Study
Is Launched to Assess Impact of Personal Genetic Testing.
Scripps Translational Science Institute, Navigenics, Affymetrix and Microsoft team on groundbreaking health study.
A consortium of health care, technology and research leaders have joined forces in a first-of-its-kind research study to assess the behavioral impact of personal genetic testing on people who choose to receive such screenings to identify their potential risk for developing certain diseases.
Sponsored by Scripps Translational Science Institute (STSI), the study aims to find out if participating in personal genomic testing will improve health by motivating people to make positive lifestyle changes, such as exercising, eating healthy and quitting smoking, as well as decisions to seek further medical evaluation and preventive strategies. The study will offer genetic scans to up to 10,000 employees, family members and friends of the nonprofit Scripps Health system in San Diego and will assess changes in participants’ behaviors over a 20-year period.
Co-sponsors of the study include Navigenics Inc. of Redwood Shores, Calif.; Affymetrix of Santa Clara, Calif.; and Microsoft Corp. of Redmond, Wash. Study participants age 18 and older can receive a scan of their genome and a detailed analysis of their genetic risk for more than 20 health conditions that may be changed by lifestyle, including diabetes, obesity, heart attack and some forms of cancer.
“Genome scans give people considerable information about their DNA and risk of disease, yet questions have been raised if these tests are ready for widespread public use,” said Eric J. Topol, M.D., director of STSI and principal investigator of the study. “Our study will prospectively evaluate the effect that state-of-the-art gene scans have on people’s lifestyles, behaviors, diets and psyches.”
Affymetrix will scan each participant’s genome and Navigenics™ will interpret the scan results and offer personalized guidance on steps to lessen the chances of negative health impact. This information will be available to participants on Navigenics’ secure Web site. Participants will be able to enter and store clinical and lifestyle information in an individual Microsoft HealthVault account, allowing participants to manage their personal health information in one location and share it, as desired, with healthcare providers or others they trust to help make more informed healthcare decisions.
Lifestyle changes will be tracked via participants’ self-reported health assessment questionnaires, including a baseline assessment and subsequent self-reported assessments at three- and 12-month intervals after receiving gene scan results. Researchers will also ask participants to conduct periodic health surveys over the next 20 years to assess their behaviors longitudinally. A complete database of genomic and clinical information will be assembled at the Scripps Genomic Medicine program.


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