Population-based genetic testing for Women's cancer prevention

Olivia Evans, Faiza Gaba, Ranjit Manchanda* (Corresponding Author)

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

18 Citations (Scopus)


Germline mutations in cancer-susceptibility-genes (CSG) can dramatically increase womens' lifetime risk of ovarian, endometrial, breast and bowel cancers. Identification of unaffected carriers is important to enable proactive engagement with highly effective screening and preventive options to minimise cancer risk. Currently, a family-history model is used to identify individuals with CSGs. Complex regional referral guidelines specify the family-history criteria required before an individual is eligible for genetic-testing. This model is ineffective, resource intense, misses >50% CSG carriers, is associated with underutilisation of genetic-testing services and delays detection of mutation carriers. Although awareness and detection of CSG-carriers has improved, over 97% carriers remain unidentified. This reflects significant missed opportunities for precision-prevention. Population-based genetic-testing (PBGT) represents a novel healthcare strategy with the potential to dramatically improve detection of unaffected CSG-carriers along with enabling population risk-stratification for cancer precision-prevention. Several research studies have assessed the impact, feasibility, acceptability, long-term psychological outcomes and cost-effectiveness of population-based BRCA-testing in the Ashkenazi-Jewish population. Initial data on PBGT in the general-population is beginning to emerge and large implementation studies investigating PBGT in the general-population are needed. This review will summarise the current research into the clinical, psycho-social, health-economic, societal and ethical consequences of a PBGT model for women's cancer precision-prevention.

Original languageEnglish
Pages (from-to)139-153
Number of pages15
JournalBest Practice & Research Clinical Obstetrics & Gynaecology
Early online date13 May 2020
Publication statusPublished - May 2020


  • Breast Neoplasms/diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis/ethnology
  • Early Detection of Cancer
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease/ethnology
  • Genetic Testing/methods
  • Genetics, Population
  • Hereditary Breast and Ovarian Cancer Syndrome/ethnology
  • Humans
  • Mutation
  • Neoplasms
  • Ovarian Neoplasms/diagnosis


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