Should GRS (Genetic Risk Scores) be used as a diagnostic tool to individually define polygenic familial hypercholesterolemia?
No. A recent study shows that patients with FH who do not have a mutation in LDLR, APOB, and PCSK9 will not have a higher GRS compared to their unaffected relatives. This implies that the application of GRS is not instrumental as a diagnostic tool.
Sjouke, Barbara, Michael Tanck W.t., Sigrid Fouchier W., Joep Defesche C., Barbara Hutten A., Albert Wiegman, John Kastelein J.p., and G. Hovingh Kees. “Children with Hypercholesterolemia of Unknown Cause: Value of Genetic Risk Scores.” Journal of Clinical Lipidology 10.4 (2016): 851-59. Web.