• familial hypercholesterolaemia
• genetic screening
• quality of life
• psychological impact

Systematic testing for genetically mediated risk factors has emerged recently, including genetic testing of apparently healthy people. The testing will often be organised within screening programmes.¹ Although the empirical evidence of the health benefits of such screening can be convincing, the broader consequences of family screening demand guided implementation strategies, including considerations of the effects on quality of life (QoL) and psychological well being.^2,3

Familial hypercholesterolaemia (FH) is a genetic disorder, predisposing to coronary artery disease. The estimated frequency of the genetic factor in western countries is 1 in 500 persons.^4–6 In about 90%, the associated metabolic defect results in an accumulation of plasma cholesterol and consequent excess CAD mortality.^4–8 The availability of DNA diagnosis at an asymptomatic stage and of effective lipid lowering therapy have called for cascade screening.^9–14 In 1994, an FH screening programme was started in The Netherlands on a provisional basis, including a parallel, independent evaluation study. The evaluation study addressed not only the uptake and diagnostic procedure, but also the short and long term impact on QoL and psychological well being of the participants of the screening programme.

Some evidence on QoL effects of non-genetic screening programmes is available. Early studies on hypertension screening showed adverse effects, which were contradicted later, both on hypertension and cholesterol screening.^15–23 In non-genetic cancer screening programmes, participants showed a temporary decline in the psychological domain of QoL.^24–26 For example, in breast cancer screening, anxiety and depression following screening were raised but to a subclinical level,²⁷ without lasting adverse psychological effects.^28–30 The psychological disturbance of prostate cancer screening was even less.³¹

In genetic testing, carriers of an autosomal recessive disorder sometimes grow pessimistic about themselves and could grow less optimistic about their future …