Cardiology

Session # S1202

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 Anatolik
  • Conference: American Heart Association (AHA)
  • Date: Sunday, Nov 12, 2017 3:15pm - 4:30pm

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