Objectives: To assess the screenees' views on, and the psychological impact of, a family-based genetic screening programme for familial hypercholesterolaemia (FH) and to evaluate non-participation. Methods: Self-administered questionnaires were filled out at the time of screening and after communication of the test result. Non-participants were interviewed by phone. Results: Of the people approached for screening, 2% did not participate. These 2% were not interested, had already been clinically diagnosed, or were afraid of insurance consequences. 677 screenees participated, of whom 215 (32%) tested FH positive. Less than 5% of the screenees were critical of the approach and the information provided. 20% of the screenees expressed feelings of social pressure. Effects on mood were minimal to absent, as were general 'quality of life' effects. Conclusions: Screening for FH is highly acceptable to screenees, although social pressure is prevalent. Only a small percentage of people being approached did not participate.@en

Aims: To estimate the cost-effectiveness of the current screening programme on Familial Hypercholesterolaemia (FH) in relatives of diagnosed FH-patients in The Netherlands. Methods and Results: Data from 2229 screened FH-relatives, including age, sex, risk factor status and screening outcome, were combined with the Framingham risk function and national disease-specific cost data to arrive at a model-based comparison of survival and costs, with and without the screening programme. Cost-effectiveness ratios were computed for various treatment strategies, with no screening as reference. Costs per life year gained varied between 25·5- and 32-thousand Euros, depending upon the precise treatment strategy after a positive screen. The costs for screening (tracing the FH-positive individuals) were much lower than the follow-up costs (treatment), of which 80% were costs for statins. Consequently, the costs per life year gained of alternative screening programmes are about the same. Conclusion: The cost-effectiveness ratio of FH screening is within the range requiring explicit political consideration in The Netherlands. As the costs of statin treatment are the single most important determinant of costs, policy decisions reduce to decisions on the acceptability of statin treatment for this risk group. Pending major changes in statin price, clear guidelines should be developed on how screen positive individuals should be treated, since not all of them have an elevated cholesterol level.@en