Familial hypercholesterolemia (FH) is an inherited condition in which individuals have very high levels of cholesterol in their blood. If they are not properly treated, they have an increased risk of getting cardiovascular diseases (conditions affecting the heart or blood vessels) early in their life.
People with FH can be identified clinically or by undergoing genetic testing. A genetic test for FH involves taking a small sample of DNA from a person’s blood, saliva, or the inside of the cheek to confirm the diagnosis of FH.
This health technology assessment looked at how effective genetic testing is in improving health outcomes and in identifying people with FH among the relatives of people who are confirmed by genetic testing to have the condition. It also looked at the cost-effectiveness and budget impact of publicly funding genetic testing for FH for people who are suspected of having FH or have a clinical diagnosis of FH, and also for their first-, second-, and third-degree relatives (known as cascade screening). Finally, it considered the experiences, preferences, and values of people with high cholesterol and or a diagnosis of FH.
Read the full health technology assessment report for more information.
Genetic Testing for Familial Hypercholesterolemia: A Health Technology Assessment
August 2022
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