cardio genetics

Clinical Genetics 2021 Highlights: Laura Hercher, Host of the Beagle Landed Podcast

Laura Hercher, host of our sister podcast, The Beagle Has Landed, joins us today to compare notes. Her gig is much more focused on the clinical side of genomics. Genetic counselors are her core audience. Today we do a highlights show looking back over the Beagle's past year.

The Beagle is essential listening to anyone in genomic medicine. It’s where we go for our information, especially on topics that are controversial and on the frontlines of genomic medicine. Is the rising number of trained genetic counselors truly helping with the implementation of precision medicine? What is Laura hearing from genetic counselors in Texas about the new abortion law there? Why was she so excited in her latest interview with the co-founder of Verve Therapeutics?

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

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.