Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.

The objectives were to determine the yield of cases from different cascade-testing protocols, treatment patterns, and short- and long-term outcomes for people with FH; to evaluate the cost-effectiveness of alternative protocols for FH cascade testing; and to qualitatively assess the acceptability of different cascade-testing protocols to individuals and families with FH, and to health-care providers. Based on the limited evidence available, the most cost-effective cascade-testing protocols (ie those  diagnosing most relatives), selected index cases by genetic testing, followed by the services directly contacting relatives,plus contacting second-degree relatives even if first-degree relatives have not been tested.

• Health Technol Assess 2023;27(16).
• doi.org/10.3310/CTMD0148
• https://www.journalslibrary.nihr.ac.uk/hta/CTMD0148