Joseph Mintzer, executive vp and chief operating officer at Coriell Institute, describes his organization’s ongoing work toward integrating large numbers of patient samples with large quantities of associated data to create a resource that serves both the scientific community and the health of the public at large.
Coriell’s Personalized Medicine Collaborative is a long-term research study to determine the utility of personal genomic information in health management and clinical decision-making. The project provides data for research studies that discover unknown gene variants that are relevant to human health. It also includes functionality to provide actionable information back to study participants.
The actionability of genomic screening data is a major bugaboo of many mass screening studies. Having information about a possibly harmful genetic mutation can be distressing and when there is no treatment, it is not considered to be in the best interests of patients. Some biorepositories manage this conflict by anonymizing data to the point that it is never reported back to the patient, but that deprives the patient of certain actionable information. Coriell’s model reconciles those needs, Mintzer claims.
The model also incorporates long-term tracking of the sample donor, so that information can be added to the record. “Longitudinally based collection of biomaterials is associated with longitudinally collected data points that are clinical data points, now tied together with a future of maybe five or ten more years of those longitudially collected specimens as well as data points,” says Mintzer.
Using the biobank data resource, scientists are able to look at the effects of environment, lifestyle, and chronic disease and compare that against genomic information. Mintzer says that projects are being operated out of Coriell in the areas of cancer, neuroscience, and cardiovascular disease.
Distribution is important, too. “People forget the obvious—distribution,” says Mintzer. “The best biobank is almost a biobank that’s empty because people regard the materials that were collected in such a wonderful way that they come to take the materials out, and those materials are being used for research. A biobank that collects material and puts it in a freezer and stores it and has not figured out how to distribute it is useless. Why would you spend the money to do that?”