EHRs + Genomics = Drugs? – An opinionated take on NEJM highlights for March 2018


GWAS, Regeneron and Geisinger, and liver disease

Genome wide association studies (GWAS) look at broad populations for gene variants associated with a particular phenotype. Often, like in Type II diabetes, one finds hundreds of genes correlated with disease, and that’s obviously not very helpful. In lucky cases there are only a few variants, and that gives clues on potential underlying mechanisms of disease. But for the very lucky, there is a jackpot which is finding a variant that is actually protective against the disease – this is what happened with PSCK9.  It’s as good as one can imagine in defining a drug target because in a way nature, has given us a proof of concept.

The Geisinger-Regeneron collaboration aims to sequence 100,000 patients of the Geisinger health system and use their EHRs to correlate the genomic findings with detailed medical history. In a study focused on a biomarker of liver injury, the Geisinger-Regeneron collaboration detected a specific genetic variant (in gene HSD17B13) that appears to be protective against progression to chronic liver disease, both in the alcoholic and non-alcoholic (i.e. NASH-type) setting. Patents have been filed, drug discovery programs launched, and Regeneron is now in an advantaged position to address a market which represents a major unmet need.  A question: there are about 30 biopharma companies larger than Regeneron, and about 90 US health systems larger than Geisinger – are they properly leveraging these types of opportunities?  A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease (subscriber access)

The New England Journal of Medicine is a premier weekly medical journal covering many topics of interest to the health sector. In this monthly series we offer an opinionated perspective on selected highlights that might be of interest to our clients and others.