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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

SAN DIEGO, Oct. 9 /PRNewswire/ -- 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(TM) 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. Each participant will be able to enter and store clinical and lifestyle information in an individual Microsoft HealthVault(TM) account, allowing the participant to manage his or her personal health information in one location and share it, as desired, with health care providers or others they trust to help make more informed health care 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.

"We stand upon the threshold of a fundamental paradigm shift from reactive to predictive and preventive medicine," said Vance Vanier, M.D., chief medical officer of Navigenics. "Modern genomic tools are instrumental in this shift, and studies that help inform physicians about the most responsible, ethical and effective ways to help people use this information to have impact on their health are crucial. Our partnership with Scripps Health represents our shared commitment to advancing the field of preventive genomic medicine."

A number of safeguards will be in place to protect the privacy of participants' genetic information. Traditional identifying information for participants' saliva samples and self-reported health assessment questionnaires will be de-identified, encoded, encrypted and kept in a secure database.

"This project represents the largest single opportunity to date for modern genetics to move outside the laboratory and directly to consumers," said Kevin King, president of Affymetrix. "Navigenics harnesses the power of the Affymetrix SNP Array 6.0, which looks at more genetic markers than any other available product. Participants in this study will be able to understand more about their health and susceptibility to disease than ever before."

Researchers will use the genetic variations found in the study as a tool to continue to study genes linked to many diseases. The study affords researchers the opportunity to better understand ways to prevent, diagnose and treat disease.

"Personalized medicine stands to change the way people approach their health and wellness, as well as open up new genetic research opportunities," said Peter Neupert, corporate vice president, Health Solutions Group, Microsoft, Inc. "This collaboration is a significant step forward in empowering people to proactively address their specific individual health needs, as well as give clinical researchers access to a broader pool of genetic data to develop new disease treatments."


Founded in 2006, Scripps Translational Science Institute (STSI) is an initiative of Scripps Health, in collaboration with The Scripps Research Institute. STSI initiates research designed to help move basic research from the lab to the patient bedside, bridging the gap between basic science and clinical trials. Scripps Genomic Medicine is a program of STSI and involves genotyping tens of thousands of individuals to identify and define genes responsible for major diseases and the underpinnings of health. Scripps Health is a $2 billion nonprofit community health system based in San Diego, Calif. with 12,300 employees, five acute-care hospital campuses, home health care services, and an ambulatory care network of clinics and physician offices.


Navigenics, Inc. is a privately held company based in Redwood Shores, Calif. The company was founded by David Agus, M.D. and Dietrich Stephan, Ph.D., with the goal of improving health outcomes in individuals across the population. Navigenics educates and empowers customers with knowledge of their genetic predispositions, and then motivates them to act on the information to prevent the onset of disease, achieve earlier diagnosis, appropriately manage disease, or otherwise lessen its impact. Navigenics' lead investors are Kleiner Perkins Caufield and Byers, Sequoia Capital and MDV-Mohr Davidow Ventures. More information can be found at


Affymetrix GeneChip(R) microarray technology is the industry-standard tool for analyzing complex genetic information. After inventing microarray technology in the late 1980s, Affymetrix scientists have been dedicated to developing innovative products that provide researchers with a more complete view of the genome. These products continue to accelerate genetic research and enable scientists to develop diagnostics and tailor treatments for individual patients by identifying and measuring the genetic information associated with complex diseases. Headquartered in Santa Clara, Calif., Affymetrix has about 1,100 employees worldwide and has manufacturing facilities in Sacramento, Calif., Cleveland, Ohio, and Singapore and maintains sales and distribution operations across Europe and Asia. More information about Affymetrix can be found at


Microsoft is committed to improving health around the world through software innovation. Over the past 12 years Microsoft has steadily increased its investments in health, with a focus on addressing the challenges of health providers, health and social services organizations, payers, consumers and life sciences companies, worldwide. Microsoft closely collaborates with a broad ecosystem of partners and develops its own powerful health solutions, such as Amalga and HealthVault. Together, Microsoft and its industry partners are working to advance a vision of unifying health information and making it more readily available, ensuring the best quality of life and affordable care for everyone. Founded in 1975, Microsoft (Nasdaq "MSFT") is the worldwide leader in software, services and solutions that help people and businesses realize their full potential.

SOURCE Scripps Translational Science Institute
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