BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening

Genet Med. 2012 Jul;14(7):688-94. doi: 10.1038/gim.2012.31.

Abstract

Purpose: BRCA genes are associated with hereditary breast and ovarian cancers. Guidelines worldwide currently recommend BRCA genetic testing in asymptomatic individuals only if they belong to "high-risk" families. However, population screening for BRCA1/2 may be the logical next step in populations with a high prevalence of founder mutations, such as Ashkenazi Jews. This study aimed to explore (i) the impact of a positive BRCA genetic test result on individuals who have neither a personal history nor a familial history of cancer and (ii) their attitudes toward the concept of population screening.

Methods: Semistructured in-depth interviews were carried out with 14 Ashkenazi Jewish women who were asymptomatic BRCA carriers and who belonged to families with low prevalence of cancer.

Results: Three main findings emerged: (i) having no family history of cancer was a source of optimism but also confusion; (ii) engaging in intensified medical surveillance and undergoing preventive procedures was perceived as health-promoting but also tended to induce a sense of physical and psychological vulnerability; and (iii) there was overall support for BRCA population screening, with some reservations.

Conclusion: Women belonging to low-cancer-prevalence families within a "high-risk" ethnic community view BRCA genetic testing positively despite the difficulties entailed, because it allows prevention or early detection of cancer. However, implementing a BRCA population screening program should be carried out with proper pre- and post-testing preparation and support for the individuals undergoing testing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Attitude to Health
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / epidemiology*
  • Breast Neoplasms / genetics
  • Female
  • Founder Effect
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Genetics, Population
  • Heterozygote
  • Humans
  • Jews / genetics
  • Middle Aged
  • Mutation
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / epidemiology*
  • Ovarian Neoplasms / genetics
  • Prevalence
  • Retrospective Studies
  • Surveys and Questionnaires
  • Young Adult