Dr. Jarvis concentrates his efforts on the Coriell Personalized Medicine Collaborative (CPMC), which aims to answer how best to deliver genetic risk information to users.
More than 7,500 individuals are grouped into the CPMC’ s four longitudinal cohorts, including a segment representing the United States Air Force Medical Service, an elite organization eager to learn more about the clinical utility of genetic information. Air Force staff recognized the promise of genome sequencing and engaged Coriell in a train-the-trainer capacity in anticipation of a genome-informed health model.
Participants receive the results of their genome-wide single nucleotide polymorphisms presented in the context of their medical and personal history. “We focus on SNP genotyping,” adds Dr. Jarvis, “because whole-genome data is too difficult to interpret and present to the user in an actionable format.”
Coriell completes genotyping with Affymetrix technology (the Genome-Wide Human SNP Array 6.0 and DMET Plus chips), and it generates reports for presentation to users.
These reports, which detail well-replicated clinical associations, combine genetic and nongenetic risk assessments in an easy-to-read, web-based format. This presentation represents CPMC’s attempt to combine information over which the participants have full control (lifestyle choices) with inherent data (genetics and family history). Enrollees have a choice of whether or not to view reports for a particular disease association.
“One of the study outcomes is to evaluate how the users act on this information,” says Dr. Jarvis. “Opting out from viewing it is also an outcome.” The majority of participants, however, choose to view the results, and some act on information by seeking additional disease-specific testing.
Sharing results with treating physicians is one of the desirable outcomes sought by the CPMC, and the CPMC project uses the opportunity to outline teaching techniques and encourage doctors to incorporate genetic information at the point of care.
A recent Coriell spin-off venture, Coriell Life Sciences, will employ lessons learned from the CPMC project and optimize the doctor-patient exchange by integrating the storage, interpretation, and delivery of genomic information.