Article Text

Short Report
Mainstreamed genetic testing for women with ovarian cancer: first-year experience
  1. Belinda Rahman1,
  2. Anne Lanceley1,
  3. Rebecca S Kristeleit2,
  4. Jonathan A Ledermann2,
  5. Michelle Lockley2,
  6. Mary McCormack2,
  7. Tim Mould2,
  8. Lucy Side3
  1. 1EGA Institute for Women’s Health, University College London, London, UK
  2. 2Gynaecological Oncology, University College London Hospitals NHS Foundation Trust, London, UK
  3. 3Wessex Clinical Genetics Service, University Hospitals Southampton, Southampton, UK
  1. Correspondence to Dr Lucy Side, Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK; Lucy.Side{at}


Background Ovarian cancer is the fifth most common cause of cancer death for women in the UK. Up to 18% of cases can be attributed to germline mutations in BRCA1 and BRCA2genes. Identifying patients who carry a BRCA mutation provides important information about potential response to treatment and eligibility for therapies such as poly ADP ribose polymerase (PARP) inhibitors. Implementation of systematic genetic testing of patients with ovarian cancer via oncology clinics (mainstreamed genetic testing, MGT) is increasing.

Methods and results This service evaluation reports on the first year of MGT at a tertiary oncology centre in London, UK. In total, 122 patients with high-grade non-mucinous ovarian cancer underwent BRCA germline testing via MGT. Eighteen patients (14.8%) were found to carry a deleterious BRCA1/BRCA2 mutation. Four BRCA carriers did not meet previous criteria for genetic testing and would have been missed. Six BRCA carriers accessed PARP inhibitors post-MGT. Only 22% of patients with a variant of unknown significance (VUS) were referred to clinical genetics services.

Conclusions MGT appears to be a feasible way of providing BRCA testing to patients with ovarian cancer. Greater clarity of how oncologists use VUS results is needed, as well as further research on psychosocial implications of MGT for patients with ovarian cancer, which may include somatic testing in the future.

  • ovarian cancer
  • genetic testing
  • mainstreaming
  • BRCA

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  • Contributors BR conducted the service evaluation. BR, AL and LS wrote the report. RSK, JAL, ML, MMC and TM contributed to drafting the report and participated in final draft revisions.

  • Funding The first 12 months of BRCA germline testing for patients with ovarian cancer at UCLH were kindly funded by the University College London Hospitals Charity (Grant 7146).

  • Competing interests None declared.

  • Patient consent Detail has been removed from this case description/these case descriptions to ensure anonymity. The editors and reviewers have seen the detailed information available and are satisfied that the information backs up the case the authors are making.

  • Ethics approval UCLH Applied Health Research in Cancer Governance Group.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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