How Disturbing Is It to Be Approached for a Genetic Cascade Screening Programme for Familial Hypercholesterolaemia? Psychological Impact and Screenees’ Views

• Published in: Community genetics Vol. 4; no. 4; pp. 244 - 252
• Main Authors: van Maarle, M.C., Stouthard, M.E.A., Marang-v.d., P.J., Klazinga, Mheen N.S., Bonsel, G.J.
• Format: Journal Article
• Language: English
• Published: Switzerland S. Karger AG 01.01.2001
• Subjects: Age Factors; Attitude; Bioethics; Communication; Evaluation Studies as Topic; Family; Genetic screening; Genetic Testing - organization & administration; Genetic Testing - psychology; Humans; Hyperlipoproteinemia Type II - genetics; Hyperlipoproteinemia Type II - psychology; Netherlands; Original Paper; Psychology; Quality of Life; Stress, Psychological - psychology; Surveys and Questionnaires; Netherlands; Empirical Approach; Genetics and Reproduction
• ISSN: 1422-2795; 1662-4246; 1422-2833; 1662-8063
• DOI: 10.1159/000064200

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. Self-administered questionnaires were filled out at the time of screening and after communication of the test result. Non-participants were interviewed by phone. Of the people approached for screening, 2% did not participated. 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. Screening for FH is highly acceptable to screenees, although social pressure is prevalent. Only a small percentage of people being approached did not participate.