Uptake of Cascade Genetic Testing for Hereditary Breast and Ovarian Cancer: A Systematic Review and Meta-Analysis

Clin Obstet Gynecol. 2024 Dec 1;67(4):702-710. doi: 10.1097/GRF.0000000000000895. Epub 2024 Oct 18.

Abstract

This is a systematic review and meta-analysis evaluating the uptake of cascade genetic testing for hereditary breast and ovarian cancer syndrome. Among 30 studies included for meta-analysis, the uptake of cascade genetic testing was 33% (95% CI 25%-42%), with higher uptake rates among females compared with male relatives, and among first-degree compared with second-degree relatives. These findings indicate suboptimal uptake of cascade genetic testing among people at risk for hereditary breast and ovarian cancer syndrome, representing a missed opportunity for cancer prevention and early detection. There is a need for interventions to improve uptake rates.

Publication types

  • Systematic Review
  • Meta-Analysis

MeSH terms

  • Early Detection of Cancer / methods
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing* / methods
  • Hereditary Breast and Ovarian Cancer Syndrome* / diagnosis
  • Hereditary Breast and Ovarian Cancer Syndrome* / genetics
  • Humans
  • Male