Familial Hypercholesterolemia Diagnosed Through EHR and Genetics Data

MedicalResearch.com Interview with:

Michael F. Murray MD Geisinger Health System Danville, PA 17822

Dr. Michael Murray

Michael F. Murray MD
Geisinger Health System
Danville, PA 17822

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: The DiscovEHR cohort was formed as a result of a research collaboration between Geisinger Health System and Regeneron Pharmaceuticals. There are over 50,000 patient participants in the cohort who have volunteered to have their de-identified genomic sequence data linked to their de-identified EHR data for research purposes. We report in this paper findings around the identification of 229 individuals (1:256) with pathogenic or likely pathogenic variants in one of the three genes (LDLR, APOB, PCSK9) associated with Familial Hypercholesterolemia (FH). The study found that these individuals are unlikely to carry a diagnosis of FH and are at risk for early coronary artery disease.

MedicalResearch.com: What should readers take away from your report?

Response: Familial Hypercholesterolemia is underdiagnosed and undertreated.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: Further study is needed if we are to improve our ability to diagnose and treat this condition that is known to cause life threatening premature atherosclerosis.

MedicalResearch.com: Is there anything else you would like to add?

Response: This study is funded in part by our research collaboration with Regeneron Pharmaceuticals.

MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Citation:

Genetic identification of familial hypercholesterolemia within a single U.S. health care system
BY NOURA S. ABUL-HUSN, KANDAMURUGU MANICKAM, LANEY K. JONES, ERIC A. WRIGHT, DUSTIN N. HARTZEL, CLAUDIA GONZAGA-JAUREGUI, COLM O’DUSHLAINE, JOSEPH B. LEADER, H. LESTER KIRCHNER, D’ANDRA M. LINDBUCHLER, MARCI L. BARR, MONICA A. GIOVANNI, MARYLYN D. RITCHIE, JOHN D. OVERTON, JEFFREY G. REID, RAGHU P. R. METPALLY, AMR H. WARDEH, INGRID B. BORECKI, GEORGE D. YANCOPOULOS, ARIS BARAS, ALAN R. SHULDINER, OMRI GOTTESMAN, DAVID H. LEDBETTER, DAVID J. CAREY, FREDERICK E. DEWEY, MICHAEL F. MURRAY
SCIENCE23 DEC 2016

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