The Cost-effectiveness of Genetic Screening for Familial Hypercholesterolemia: a Systematic Review

Area of Science:

• Genetics
• Cardiovascular Medicine
• Health Economics

Background:

• Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated LDL-cholesterol, leading to premature coronary heart disease (CHD).
• Increased understanding of FH mutations and statin efficacy has spurred interest in genetic screening for improved diagnosis.
• Evaluating the cost-effectiveness of genetic screening strategies is crucial for optimizing FH diagnosis and management.

Purpose of the Study:

• To systematically review and evaluate the cost-effectiveness of genetic screening strategies for Familial hypercholesterolemia (FH).

Main Methods:

• A systematic review of full economic evaluations of FH genetic screening strategies was conducted.
• Searches were performed across multiple databases including Medline, Scopus, and Web of Science.
• Data extraction and quality assessment were performed independently by two reviewers, with findings summarized in a narrative synthesis.

Main Results:

• Seven economic evaluations published between 2002 and 2015, primarily from Europe, were included.
• Cascade screening, involving genetic testing of relatives of diagnosed FH index cases, was the most frequently assessed strategy.
• Cascade screening was found to be cost-effective in the majority of evaluated settings.

Conclusions:

• The review confirms that cascade genetic screening is a cost-effective approach for diagnosing Familial hypercholesterolemia (FH).
• Further research is warranted to assess the cost-effectiveness of cascade screening in light of new therapeutic guidelines and next-generation sequencing technologies.