How Geisinger Is ‘Reading’ Patient DNA And Pioneering Precision Medicine

posted by David H. Ledbetter

on September 21, 2016

With electronic health records going back 20 years and a system-wide biobank dating back almost 10 years, the Geisinger Health System in Pennsylvania began laying the framework for the new field of precision medicine long before the Obama Administration announced its national Precision Medicine Initiative.

In partnership with the Regeneron Genetics Center, we have already “read” the DNA sequence of more than 50,000 of the 110,000+ Geisinger patients who have voluntarily consented into the MyCode® Community Health Initiative, a precision medicine project at Geisinger that includes a system-wide biobank designed to store blood and other samples for research use by Geisinger and Geisinger collaborators.

It is still early days and we have only begun to return medically important results to patients. However, that already sets us somewhat apart. While many others are still debating whether to return “secondary” genomic findings to patients, at Geisinger, we are getting on with it. We have established systems and protocols for returning all clinically actionable results to MyCode research participants.

In so doing, we have had to create the infrastructure – intellectual, administrative, educational, and physical – for turning research participants into research partners and for creating a clinical genomic extension of the research program throughout our integrated health care system.

Bringing the work full circle, our efforts have led the Geisinger Health Plan to provide coverage for additional genetic testing in appropriate family members.

What began as a research program will, as we move forward, become a clinical precision medicine program. Little by little, the steps are being put in place to go from reading the DNA sequence of 250,000 patient-participants – the full target goal – to coping with up to 10,000 patients out of that group who are expected to have disease-causing genomic variants, as well as the four to six family members at 50 percent risk for each participant identified.

By making use of a broad opt-in consent that includes rights for re-contact, longitudinal access to medical records and samples, and return and placement of clinical results in the medical record, we have moved rapidly into the world of precision medicine within the Geisinger Health System.

We will be preventing some early-onset cancers such as breast, ovarian, and colon cancer, and catching others much earlier in their course. We will be – indeed we already are – identifying people with inherited diseases that can cause substantially early deaths from cardiovascular diseases.

These kinds of early learning and early interventions will become much more common as time goes by.

In the interim, we stand to massively increase our scientific knowledge from having access to this deep pool of genomic data and making connections to the clinical data that is housed in our long-standing health data warehouses.

Substantial research is under way both within Geisinger and in collaboration with others aimed at identifying or confirming new pathogenic (disease-causing) genes, searching for actively “protective” genes and, through our partnership with Regeneron, the development of new and more effective drugs. Geisinger stands ready to share our experience in genomics and precision medicine with all comers.

Future blog posts in this three-part series will discuss in more detail patient engagement, followed by the return of results.

David H. Ledbetter is Executive Vice President & Chief Scientific Officer at Geisinger Health System.

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