Genetic testing for familial hypercholesterolemia

Ontario Health
Record ID 32018011261
Authors' objectives: 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.
Authors' results and conclusions: Genetic testing for FH has a higher clinical utility than clinical evaluation without a genetic test. It also results in a high diagnostic yield of FH through cascade screening. For individuals with a clinical diagnosis of FH, genetic testing would be a cost-saving and more effective diagnostic strategy. For relatives of index cases confirmed through genetic testing, genetic and lipid cascade screening are both cost-effective compared with no screening, but genetic cascade screening is less cost-effective than lipid cascade screening. We estimated that publicly funding genetic testing for individuals with a clinical diagnosis of FH in Ontario would save $141 million, and publicly funding genetic testing in a cascade screening program for relatives would cost an additional $73 million over the next five years. Most people with a positive genetic test perceived the screening, diagnosis, and treatment for FH more positively. The discovery of the condition can lead people to adhere to relevant treatments in an effort to control their cholesterol levels. People we spoke with felt that greater awareness and education would allow for more efficient uptake of cascade screening.
Authors' recommendations: 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
Authors' methods: We performed a systematic literature search of the clinical evidence. For evaluation of clinical utility, we assessed the risk of bias of each included study using the ROBINS-I tool and the quality of the body of evidence according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) Working Group criteria. We performed a systematic economic literature search and conducted a cost-effectiveness and cost-utility analysis with a lifetime horizon from a public payer perspective. We assessed the cost-effectiveness of using genetic testing both for confirming a FH clinical diagnosis and for cascade screening in relatives of genetically confirmed cases. We evaluated the cost effectiveness of cascade screening strategies with genetic testing, sequential testing, and lipid testing approaches. We also analyzed the budget impact of publicly funding genetic testing in Ontario.
Project Status: Completed
Year Published: 2022
English language abstract: An English language summary is available
Publication Type: Full HTA
Country: Canada
Pubmed ID: 36158868
MeSH Terms
  • Cholesterol
  • Hyperlipoproteinemia Type II
  • Lipids
  • Genetic Testing
  • Cost-Effectiveness Analysis
  • Cholesterol; Familial Hypercholesterolemia; Genetic Testing; Hyperlipoproteinemia Type II; Lipoproteins
Organisation Name: Ontario Health
Contact Address: 525 University Ave, Toronto, ON M5G 2L3
Contact Name: Nancy Sikich, Director Health Technology Assessment
Contact Email:
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This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.