3:22 PM
Jan 26, 2017
 |  BC Innovations  |  Strategy

Deep roots

Geisinger and Regeneron mine the heartland for targets and precision therapies

Regeneron Pharmaceuticals Inc. is starting to see the fruits of its experiment with Geisinger Health System to mine vast quantities of patient data for links between genotype and phenotype. Three years into the project, the partners have waded through data from over 50,000 patients and found clues about new molecules to target, actionable biomarkers and indications to pursue.

The big questions are how the partners can most efficiently turn that data trove into diagnoses, and whether other institutions will be able to collect similar data for more diverse populations.

Last month in Science, Geisinger and Regeneron published two papers describing the “DiscovEHR” study, which analyzed the exomes and electronic health records (EHRs) of 50,726 Geisinger patients going back a median of 14 years (see “DiscovEHR By the Numbers”). 

Figure: DiscovEHR by the numbers

Three years into their collaboration, Regeneron Pharmaceuticals Inc. (NASDAQ:REGN) and Geisinger Health System have published two papers in Science describing the DiscovEHR study, which so far has connected exome sequencing data to electronic health records (EHRs) for 50,726 patients from Geisinger’s integrated healthcare network in rural Pennsylvania and New Jersey. Key numbers describing the study are listed.

In the first study, the partners characterized the distribution of likely loss-of-function mutations in the patient population, and looked for associations with 80 measurements or traits documented in the EHRs.

In the second study, the team homed in on familial hypercholesterolemia (FH) - a disease area in which Regeneron is active - and found mutations associated with the disease at a significantly higher frequency than had previously been shown. Specifically, it showed 1 in 256 people had mutations in FH-related genes, which put them at risk for elevated low-density lipoprotein (LDL) cholesterol levels and coronary artery disease (CAD). However, only 15.3% of the carriers were diagnosed with FH.

Frederick Dewey, senior director and head of translational genetics at Regeneron Genetics Center LLC - a wholly owned subsidiary of Regeneron - told BioCentury the project had two aims: to identify new therapeutic targets, which the company can further assess in rodent models, and to inform diagnosis and treatment of the volunteer population (see “People Power”).

Figure: People power

Regeneron Pharmaceuticals Inc. (NASDAQ:REGN) and Geisinger Health System are using data captured by the DiscovEHR study to identify therapeutic targets validated by human genetics, and to inform the medical care of Geisinger’s study volunteers.

Volunteers from across Geisinger’s inpatient and outpatient clinics who opt into the study donate blood samples for DNA exome sequencing, and allow the researchers access to their electronic health records (EHRs). For each of the 18,852 genes sequenced, predicted loss-of-function (LOF) variants are identified, and those variants are tested for associations with phenotypic traits from the EHRs such as blood cholesterol levels. Variants for which the carrier population...

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