- 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.
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