Informing one's family about genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): a retrospective exploratory study

Fam Cancer. 2005;4(2):163-7. doi: 10.1007/s10689-004-7992-1.

Abstract

Background: The family-link approach of case finding is considered the fastest and most efficient approach to trace people with hereditary disease. Therefore, there is a need to understand if, why, and how people with hereditary non-polyposis colorectal cancer (HNPCC) inform their biological family.

Aim: To explore people's perspective on informing one's biological family regarding a hereditary predisposition for HNPCC.

Method: In-depth interviews were conducted with 30 people recruited from the database of the Netherlands Foundation for Detection of Hereditary Tumours (STOET). Interviews were transcribed and analyzed thematically.

Findings: Disclosure was stimulated if people felt morally obliged to do so or when they anticipated regret if something happened because it is preventable. Motivation to disclose seemed to increase if there were, especially fatal, cancer cases in the family. Presence of external cues (e.g. professionals) appeared important for disclosure as well. Disrupted and tense family relations were reasons not to disclose, as well as young age of the message recipients and negative experiences at their first attempt to disclose (a novel finding). Disclosure was merely restricted to the nuclear family. A personal approach in this respect was preferred. With respect to content of the disclosure, participants reported to solely announce the presence of the hereditary defect and the possibility of testing. It was mostly considered the recipients' responsibility and own choice to obtain further (technical/medical) information.

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Communication*
  • Decision Making
  • Family Relations*
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Humans
  • Interpersonal Relations
  • Male
  • Middle Aged
  • Motivation
  • Pedigree
  • Retrospective Studies
  • Risk Factors
  • Truth Disclosure*