By Bio-IT World Staff
January 14, 2014 | There was a time, not too long ago, when the genetics community could be wowed by sufficient volumes of genetic information: the 1,000 Genomes Project, the Personal Genome Project with its 100,000 genomes, the Million Veteran Program. But in 2014, the most noteworthy thing about the 100,000 whole exomes Regeneron plans to sequence in a new genomic initiative is how quickly and comprehensively the pharmaceutical company should be able to match genetic data to individuals’ medical histories.
That’s because Regeneron is partnering with Geisinger Health Systems, a Pennsylvania health care network that serves a population of 3 million in the state’s rural northeast and center. Geisinger has already made a big push into electronic health records, not only connecting all its clinics in a single health record database, but also implementing the MyGeisinger tool where patients can access their medical information and communicate with their physicians online. That reliance on electronic records gives this new genomic project an important head start in linking genetic information to data on health outcomes and a range of phenotypic variables – and tracking that data over a long period of time.
Under the terms of the project, Geisinger will inform patients of the study, obtain informed consent from volunteers, and provide both serum samples and anonymized health records for each enrollee. Regeneron will bear Geisinger’s costs, and will perform whole-exome sequencing on each participant’s samples at its genetic lab in Tarrytown, NY. The genetic sequences will be de-identified, but tagged to the appropriate health records, allowing Regeneron to seek out disease associations and changes in health outcomes tied to even very rare genetic variants. The company hopes this information will lead to publications and new pharmaceutical targets. Regeneron has had some success in this arena before, bringing a cholesterol drug to late stage development based on gene-phenotype association studies, but has never before relied on internal genetic research on this scale.
The project, which over its 5-year initial term will attempt to sequence 100,000 participants, is not as extensive as the Million Veteran Project, which has already collected more than twice that number of volunteers – but Regeneron has the resources to obtain whole exomes of each participant, rather than relying on narrowly targeted sequencing. It is also not as ambitious as the Personal Genome Project, which collects whole genomes and a truly monumental amount of health data – but with the cooperation of Geisinger, Regeneron should be able to acquire a huge dataset much more quickly, and track changes in participants’ health more easily over time. For those waiting for a gold standard genomic study, which ties genes to health over a long timeframe and wide spectrum of outcomes, this partnership is a promising candidate to deliver early results.
It may also have a direct impact on some patients’ lives right away. As Regeneron sequences samples, it will report any actionable findings – genetic variants that are known with high confidence to be tied to a treatable or preventable disease – to Geisinger, who will be able to re-identify the samples and find the patients concerned. Volunteers will therefore have free and early access to important genetic information about their health.