A commentary on population genetic testing for primary prevention: changing landscape and the need to change paradigm

BJOG. 2019 May;126(6):686-689. doi: 10.1111/1471-0528.15657.


BRCA1/BRCA2 genes were discovered in early 1990s and clinical testing for these has been available since the mid-1990s. National Institute of Health and Care Excellence (NICE) and other international guidelines recommend genetic-testing at a ~10% probability threshold of carrying a BRCA-mutation. A detailed three generation family-history (FH) of cancer is used within complex mathematical models (e.g. BOADICEA, BRCAPRO, Manchester-Scoring-System) or through standardized clinical-criteria to identify individuals who fulfil this probability threshold and can be offered genetic-testing. Identification of unaffected carriers is important given the high risk of cancer in these women and the effective options available for clinical management which can reduce cancer risk, improve outcomes and minimise burden of disease. This article is protected by copyright. All rights reserved.

MeSH terms

  • Chemoprevention / methods
  • Contraception / methods
  • Cost-Benefit Analysis
  • Early Medical Intervention / methods*
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Testing* / economics
  • Genetic Testing* / methods
  • Genetic Testing* / statistics & numerical data
  • Genetics, Population / methods
  • Health Services Accessibility / standards*
  • Hereditary Breast and Ovarian Cancer Syndrome* / ethnology
  • Hereditary Breast and Ovarian Cancer Syndrome* / genetics
  • Hereditary Breast and Ovarian Cancer Syndrome* / prevention & control
  • Humans
  • Mutation
  • Needs Assessment
  • Prophylactic Mastectomy / methods
  • Quality Improvement
  • Risk Assessment