Implementation of cascade testing for the detection of familial hypercholesterolaemia

Cascade testing is an important method for identifying individuals at risk of a genetic condition. Recent advances in its application to familial hypercholesterolaemia are reviewed to identify potential problems impeding its application and the extent to which current data address these concerns.

Different paradigms for cascade testing are being applied in national programmes. Current data demonstrates cost-effectiveness, and an increased uptake of preventive measures. The relationship between molecular and clinical diagnostic methods is discussed. Psychological impacts of a diagnosis of familial hypercholesterolaemia are in line with the risks associated with the disorder. The efficacy of statins in improving vascular function of children with familial hypercholesterolaemia has been demonstrated, but extensive safety data are lacking. Ethical arguments support that it is equally acceptable for relatives of familial hypercholesterolaemia patients to be contacted by healthcare workers as by family members, but the former is likely to be more efficient. Concerns about increased life insurance premiums are valid but insurance companies are assessing risk realistically, so this should not be a barrier to cascade testing.

Current data support the implementation of cascade testing for familial hypercholesterolaemia as being feasible and cost-effective, but national implementation is limited to a small number of countries. Funding and the infrastructure to support it may be the major stumbling blocks in implementing this technique in many countries. Concerns about the ethics of carrying out cascade testing, and the potential psychological damage of DNA testing, appear to have been largely addressed for familial hypercholesterolaemia.