For $400 and a little saliva a person can order an at-home test kit online to find out their genetic likelihood of developing Alzheimer's disease. Or, for a heftier price of $2,500, a consumer can order a similar at-home test kit to find out their potential risk of developing 20 or more common conditions, including heart attack, rheumatoid arthritis, and certain types of cancer.

But what happens after the consumer learns about their genetic likelihood of developing one of these health conditions? A consortium of healthcare, technology and research experts have launched a research study to find out the behavioral impact of personal genetic testing on people who choose to receive such screenings.

Sponsored by Scripps Translational Science Institute (STSI; San Diego), 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 (San Diego) system and will assess changes in participants' behaviors over a 20-year period.

Co-sponsors of the study include Navigenics (Redwood Shores, California), Affymetrix (Santa Clara, California), and Microsoft (Redmond, Washington). 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.

Navigenics is one of a growing number of companies that are cashing in on consumers' genetic concerns. In April the company launched a service called Health Compass designed to give customers information about their chances of developing 18 or more common conditions, including Alzheimer's. The company's list of covered conditions has since grown to 23. The initial fee and first year of membership costs $2,500 with an ongoing membership rate of $250 a year, which includes updated medical information (Medical Device Daily, June 4, 2008).

Elissa Levin, director of the genetic counseling program at Navigenics, told Medical Device Daily in June that the Health Compass scans through a person's entire genome and, based on scientific publications, identifies a certain marker or sets of markers associated with a disease.

The benefit of knowing such information, Navigenics says, is so that the consumer and their doctor can obtain earlier diagnosis, delay onset or prevent the conditions altogether. But critics of direct-to-consumer genetic testing say the market is largely unregulated and lacks the guarantee that these tests do what the companies selling them claim.

According to a policy analysis published in the journal Science in April, no mechanism currently exists to ensure that genetic tests are supported by adequate evidence before they go to market, or that marketing claims are truthful and not misleading.

"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 Topol, MD, 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."

In an email to MDD, provided by Scripps on behalf of Topol, he said the study is necessary because research-grade genome-wide scans have only become feasible since late 2007. Now that such screenings are available to the public, he said, "questions have been looming and it's vital that they be addressed."

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 a negative health impact. This information will be available to participants on Navigenics' secure web site, the company said. Each participant will be able to enter and store clinical and lifestyle information in an individual Microsoft HealthVault account, allowing the participant to manage his or her 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.

"We stand upon the threshold of a fundamental paradigm shift from reactive to predictive and preventive medicine," said Vance Vanier, MD, 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."

Scripps said a number of safeguards would 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, 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. According to STSI, 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 VP of the Health Solutions Group at Microsoft. "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."

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