Day 1 Coverage: Friday, August 11

Amy C. Sturm, MS, LGC

Professor & Director of Cardiovascular Genomic Counseling
Genomic Medicine Institute
Geisinger Health System
Lewis Center, OH

In this opening session, Amy C. Sturm, MS, LGC, presented key points on the importance of genetic testing for familial hypercholesterolemia. Rationale for FH genetic testing include diagnosis, risk stratification, clinical outcomes, phenocopy distinction, cascade testing, and precision genetic counseling.

FH diagnosis is usually based on LDL-C levels, family history, premature cardiovascular disease, and physical examination findings including tendon xanthomas. DNA testing can identify a causative mutation in LDLR, APOB, or PCSK9 and provides the highest number of points (eight) toward a definite FH diagnosis in the Dutch Lipid Clinic Network (DLCNC) and alone provides a diagnosis of explicit FH in the Simon Broome (SBR) criteria.

In the absence of DNA testing, there are limitations to diagnostic criteria and the reliability of family history. The presentation showed that FH genetic testing provides a definitive diagnosis.