Individuals' experiences of, and responses to, a negative genetic test result for familial hypercholesterolaemia

J Health Psychol. 2013 Mar;18(3):339-49. doi: 10.1177/1359105312443403. Epub 2012 Apr 19.

Abstract

This study aimed to explore the responses of individuals who have undergone genetic testing for familial hypercholesterolaemia (FH) where no genetic mutation has been identified. Semi-structured interviews were conducted with 11 patients and interpretative phenomenological analysis (IPA) was employed. This article describes three inter-related themes: 'feeling in limbo', 'exploring causes of raised cholesterol' and 'contradictions in talk about diet'. Although participants generally adhered to medication and engaged in healthy lifestyles, the findings have clinical implications for how genetic test results are communicated.

MeSH terms

  • Adult
  • Attitude to Health*
  • Diet
  • Female
  • Genetic Counseling / psychology
  • Genetic Predisposition to Disease / psychology*
  • Genetic Testing*
  • Humans
  • Hyperlipoproteinemia Type II / diagnosis
  • Hyperlipoproteinemia Type II / genetics
  • Hyperlipoproteinemia Type II / psychology*
  • Male
  • Qualitative Research
  • Wales