The Scripps Translational Science Institute last week announced the formation of a consortium that will conduct a multidecade-long study to determine the ability of personal genetic testing to make an impact on patient health.
The new consortium, which includes San Diego-based STSI, Navigenics, Affymetrix, and Microsoft, plans to offer genetic scans to up to 10,000 Scripps Health system employees, family members, and friends in an effort to determine whether participating in personal genomic testing spurs individuals to make beneficial lifestyle changes, including improving their diet and beginning exercise regimes.
Scripps employees will be offered Navigenics’ Health Compass testing service, which assesses an individuals’ genetic propensity for more than 20 health conditions, including diabetes, heart disease, and some cancers. The service, which uses the Affymetrix SNP Array 6.0 platform, provides counseling on how best to mitigate the threat of developing certain conditions.
The project could be a boon for Redwood Shores, Calif.-based Navigenics, which has already partnered with several other US research centers to gauge the long-term effects of its tests. The Scripps project, though, will be among the largest the company has ever handled, according to Chief Scientific Officer Dietrich Stephan.
“This is one of the largest, single-entity projects we have done,” Stephan told BioArray News last week. “We have built [it] for scale, though, so we are good on that part.”
The consortium plans to track participants’ lifestyle changes using self-reported health questionnaires. Participants will complete the questionnaires at baseline and again three and six months after receiving results from their personal genetic test. Additionally, enrollees will be asked to participate in surveys periodically over the next 20 years.
The results will be compiled in a database hosted by the Scripps Genomic Medicine program. As a second goal of the project, researchers plan to use genetic variations identified in the study to improve their understanding of the genetics underlying diseases and the application of this genetic information for preventing, diagnosing, and treating them.
A ‘Vital’ Assessment
STSI Director Eric Topol told BioArray News this week that all data collected from the study will be “for Scripps and its partners, with no intent to make it accessible beyond that.”
He said that Scripps decided to embark on the study to assess “vital” questions about the personal genetic testing services that have been launched over the past year by Navigenics, 23andMe, DeCode Genetics, and others.
“Research-grade, genome-wide scans have only become feasible since late 2007, and now that they are available to the public questions have been raised about whether they should be available to the public,” Topol said.
He said that Scripps chose to work with Navigenics because it is the “most sophisticated, medically oriented consumer genomics company,” and also due to the firm’s partnership with Microsoft Health, which will allow Scripps participants to maintain their data in a HealthVault account, which they can share with their personal healthcare providers if desired.
“This is one of the largest, single-entity projects we have done.”
Topol said that Scripps plans to set aside a “large personnel requirement for data management and analysis” to support the study beyond enrollment. None of the companies involved have disclosed the cost of the project and all are co-sponsoring it, though Stephan said that Navigenics will be reimbursed for its tests.
According to Stephan, the study will start immediately and all the sample collection will be done within six months. Following the initial testing and counseling, the consortium will stay in touch with participants through electronic personalized medical records.
“We will continue to stay in contact with them,” he said. “The lab site is completely scalable, all the risk analysis and communication is done through the database and algorithms we use, and the counseling will be done through our in-house counselors, as well as the Scripps counselors.”
The benefit to Scripps, Stephan said, is that its researchers will have the opportunity to identify new genetic associations out of the related data sets. “A lot of people have tried to do this type of study where you enroll huge numbers of people, scan their genome, and watch over time what happens to them,” Stephan said. “Nobody has been effective at pulling it off because it is quite costly and hard to pull off. Now you will start to see scientific studies that everyone in the industry has been pining for.”
Navigenics also stands to benefit from the project: The company will use the study to refine its personal genetic testing services, which typically cost $2,500 per test, according to Stephan.
“The first thing we want to do is continue to refine our risk scores,” he said. “The second is to understand how best to encourage people with high risk to modify their behavior.“
Ultimately, Navigenics goal is to measure “in a prospective way the magnitude of risk reduction that we have affected,” he added.
Navigenics is involved in projects with other partners to determine how genetic information and resulting genetic counseling inspires lifestyle changes. Specifically, the company has developed relationships with medical institutions, including the Cleveland Clinic in Ohio; Georgetown University in Washington, DC; the Mayo Clinic in Rochester, Minn.; and Partners HealthCare in Boston (see BAN 11/13/2007).
These partners comprise “centers of regional excellence” that offer Navigenics expertise in genomic medicine and support customers in follow-up care and diagnosis. Last year, Navigenics announced an agreement with the Mayo Clinic to provide health information on the Navigenics website and to develop continuing medical education materials for physicians.
In April, Navigenics embarked on a study with the Mayo Clinic entitled “A Proof of Principle Trial of Communication to Patients Receiving Predictive Genetic Risk Assessment.” The project seeks to examine how patients and doctors understand and use information provided by Navigenics’ genetic risk-assessment service. The study, slated to end in September 2009, is jointly funded by Navigenics and the Mayo Clinic.
“We have a number of collaborations with academic and medical entities that are focused on different clinical questions,” Stephan said last week. “We have a clinical trial with Mayo that is focused on how to most effectively deliver this information to a patient. There are follow-on questions we ask; but that's a very different question than the Scripps project,” he said. “Each of our projects is a different flavor.”
Platforms of Choice
All initial 10,000 screens in the project will be performed at Affymetrix’s Clinical Laboratory Improvement Act-compliant clinical service laboratory in Sacramento, Calif., an Affy spokesperson told BioArray News this week. All samples will be run on the company’s SNP 6.0 Array platform.
The spokesperson said that Affy believes the Scripps study may encourage other large research centers to follow suit, prompting the kind of high-volume studies that have typically supported Affy’s genotyping business.
“This is the largest single opportunity to date for modern genetics to move outside the laboratory and directly to consumers,” the spokesperson said. “We are excited to learn the results of the research study and believe the interest caused will encourage other employers to offer this same type of service based on our technology.”
According to Stephan, however, for the Scripps project Navigenics may employ other technologies, such as second-generation sequencing, in future, follow-on studies. ”We all recognize that sequencing as a technology will become accurate and cheap enough that it is likely that we will follow up with some more granular technology in the future,” he said.