Genetic Testing as an Effective Diagnostic Tool for Familial Hypercholesterolemia.

Multigene panel testing for FH has a relatively high diagnostic yield, with 42% of total cases having a positive result that can impact care for patients and their relatives.
Genetic testing as a tool for assessing familial risk has been largely underutilized in individuals with FH.
Our data demonstrate the value of genetic testing on individuals with a wide range of elevated cholesterol levels.
Genetic testing can help confirm the diagnosis of FH and guide pharmacologic management, such as treatment with PCSK9 inhibitors.
As positive results from FH genetic testing have been shown to increase patient compliance with medication regimens, genetic testing could have a positive effect on cholesterol management in significant portions of the population with inherited high cholesterol.

Authors: Tami Johnston; Andy Castro; Lily Hoang; Brittany Dougall; Jessica Gage; Jill Dolinsky; Christian Antolik
Conference: AHA 2017
Date: Sunday, Nov 12, 2017 3:15pm - 4:30pm

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