90% Go Undiagnosed, Says Geisinger’s Amy Sturm of FH Patients

Amy Sturm, Director of Genomic Counseling and Screening Program at Geisinger Health Systems

Bio and Contact Info


0:00 Familial hypercholesterolemia (FH) is most common inherited predisposition for heart disease

7:29 What is cascade testing?

11:47 1,000 FH results returned at Geisinger

18:32 What about those of us not at Geisinger?

22:38 Million Hearts initiative

25:26 IMPACT-FH and Gia-bots

28:53 Some thoughts on PRS and when they will be ready for primetime

More than one in two hundred people have an inherited form of heart disease. But most don’t know it.

Often on Mendelspod we talk about cancer genomics, but in the area of cardio, too, genetic testing can save lives.

Amy Sturm is the Director of Genomic Counseling and Screening Program at Geisinger Health Systems. There she has led the effort to return the results of cardio genetic tests to over 1,000 patients.

FH, or familial hypercholesterolemia—Amy says we need to get used to saying it out to spread awareness—is the most common inherited predisposition for heart disease. Over 90% of those with the FH variant go undiagnosed.

What does it mean for one's health if one has this gene? What are Amy’s pioneering studies at Geisinger revealing as they diagnose more and more cases and report results back to patients? How does cascade testing work where family members are notified and sometimes tested? And finally, what are Amy’s thoughts on the new polygenic risk scores that are coming out in the field of cardio genetics?

It’s an area of genetics ripe for its own Anjelina Jolie moment, says Amy.

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