HTA Details
Genetic Testing for Familial Hypercholesterolemia
- Publication date
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2022-August-23
- Status
- Final
- Topic Area
- Genetics
- Recommendation
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Final Recommendation
- Ontario Health, based on guidance from the Ontario Health Technology Advisory Committee, recommends publicly funding:
- Genetic testing for familial hypercholesterolemia for people suspected to have familial hypercholesterolemia or people who have a diagnosis of familial hypercholesterolemia based on accepted diagnostic criteria (i.e., Canadian Cardiovascular Society, Simon Broome Register, or Dutch Lipid Clinics Network)
- Genetic cascade screening for familial hypercholesterolemia for people who choose to undergo screening and who are biological relatives of people with a genetically confirmed diagnosis of familial hypercholesterolemia
- Ontario Health, based on guidance from the Ontario Health Technology Advisory Committee, recommends publicly funding:
- Ministry Response
-
The Ministry of Health has accepted this recommendation.
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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.
Supporting Documents
Last Updated: February 24, 2026
