Parental attitude towards genetic testing for familial hypercholesterolaemia in children.

Nationwide screening for familial hypercholesterolaemia (FH), using family investigation and molecular testing, has been operative in The Netherlands since 1994. FH is a common inherited disorder of lipoprotein metabolism with a prevalence of 1 in 400 to 500 persons in western societies. Untreated, the disorder leads to hypercholesterolaemia, premature cardiovascular disease, and untimely death. Consequently, the life expectancy of FH patients is reduced by 10-20 years. Unfortunately, the disorder is often diagnosed after cardiovascular symptoms become evident and precious time for reducing the cardiovascular burden by efficacious lipid lowering drug treatment is lost. 6 The aim of the programme is therefore to identify presymptomatic FH patients and to initiate treatment at an early stage of the disease. Patients are diagnosed on the basis of carriership of one of the 159 different LDL receptor gene mutations causing FH that have been identified in Dutch patients to date. Currently, the benefits of screening and treatment of FH children are under debate; guidelines for genetic screening programmes in The Netherlands still exclude children under 16. The dilemmas associated with genetic testing for adult onset diseases in childhood have led experts to conclude that “not to know” should prevail and that people should only be tested when they can decide for themselves. 12 However, information on the attitudes of parents is not available with regard to genetic testing for FH in their children. Gender, carrier status, educational level, and religion are known to influence the attitude towards genetic screening for other diseases in children. Psychological studies have shown four factors to be relevant in the decision making: (1) information about the disease, (2) previous experience of the disease, (3) expectations regarding treatment options and the impact on daily life, and (4) emotions such as fear, guilt, and uncertainty. 15 Therefore, we chose to work with a decision model based on these four factors: information, experience, expectation, and emotion. The aim of the present study was to assess parental attitudes towards genetic testing for FH in children and to investigate the factors that might influence their decision.