How disturbing is it to be approached for a genetic cascade screening programme for familial hypercholesterolaemia? Psychological impact and screenees' views

Community Genet. 2001;4(4):244-52. doi: 10.1159/000064200.

Abstract

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 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.

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.

MeSH terms

  • Age Factors
  • Attitude*
  • Communication
  • Evaluation Studies as Topic
  • Family
  • Genetic Testing / organization & administration
  • Genetic Testing / psychology*
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Hyperlipoproteinemia Type II / psychology*
  • Netherlands
  • Quality of Life
  • Stress, Psychological / psychology*
  • Surveys and Questionnaires