In The Netherlands, cascade screening to identify patients with familial hypercholesterolaemia (FH) has been introduced in 1994; a nationwide screening programme is currently ongoing to detect all - approximately 40000 - carriers by molecular screening. Active identification by DNA testing has social implications such as difficulties in obtaining life and disability insurance. In The Netherlands, insurance companies are restricted in the use of genetic information of their clients by the Medical Examination Act (1998). Within the scope of this specific law, the Foundation for the Identification of Persons with Inherited Hypercholesterolaemia, the patient support association, representatives of the medical profession as well as insurers designed guidelines for risk assessment of mortality and morbidity of FH carriers. Risk assessment should be based on phenotype, that is, lipoprotein profile and the presence of classical cardiovascular risk, instead of the LDL receptor gene mutation. Applicants with FH should be accepted at normal rates if LDL-c levels are <4.0 mmol/l, in the absence of additional risk factors. After implementation of these guidelines, the number of complaints about insurance contracts has decreased markedly.

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Journal European Journal of Human Genetics
Homsma, S.J, Huijgen, R, Middeldorp, S, Sijbrands, E.J.G, & Kastelein, J.J.P. (2008). Molecular screening for familial hypercholesterolaemia: Consequences for life and disability insurance. European Journal of Human Genetics, 16(1), 14–17. doi:10.1038/sj.ejhg.5201940