Key result
DNA testing for familial hypercholesterolaemia proves cost-effective and enables cascade screening to prevent cardiovascular disease.
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PURPOSE OF REVIEW: To highlight the unmet need for identifying individuals with familial hypercholesterolaemia and exploring the implications that this will have for local and national healthcare services. RECENT FINDINGS: A pathway utilising DNA testing for the diagnosis of familial hypercholesterolaemia, and subsequent cascade testing has been developed in Wales. SUMMARY: Undiagnosed familial hypercholesterolaemia carries a high risk of cardiovascular disease, which is easily preventable with pharmacotherapy, if individuals are appropriately diagnosed, and affected family members identified. The use of DNA testing is cost-effective and allows for efficient cascade testing. This has implications for local services and highlights unmet educational and clinical requirements in clinical lipidology.
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Datta et al. (2010) conducted a review in Familial hypercholesterolaemia. DNA testing and cascade testing for familial hypercholesterolaemia was evaluated. DNA testing for familial hypercholesterolaemia is cost-effective and enables efficient cascade testing to prevent cardiovascular disease, though no quantitative results are reported in this review.
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