Through a study, published in Science, of patients’ genes and Epic data, Geisinger found that one in every 256 people have a gene variant for Familial Hypercholesterolemia (FH), making the disease about twice as common as researchers once believed. FH is a life-threatening genetic disorder that prevents the body from eliminating LDL cholesterol from the blood, which can cause people of all ages to suffer heart attacks or strokes. It often goes undiagnosed and undertreated because genetic tests for FH aren’t routine.
To make this study possible, Geisinger collected genetic samples from 50,726 patients, as part of its MyCode Community Health Initiative. Researchers discovered the FH genetic variants in 229 of the participants, and clinicians were able to prescribe them life-saving treatments that they wouldn’t have otherwise received.
What makes Geisinger’s work notable is its combination of genetic information and Epic data to identify FH, helping clinicians identify cases of FH that they might otherwise have missed by relying on only a patient’s cholesterol and family history information.