Achieving universal genetic assessment for women with ovarian cancer: Are we there yet? A systematic review and meta-analysis

Jenny Lin, Ravi N. Sharaf, Rachel Saganty, Danyal Ahsan, Julia Feit, Andrea Khoury, Hannah Bergeron, Eloise Chapman-Davis, Evelyn Cantillo, Kevin Holcomb, Stephanie V. Blank, Ying Liu, Charlene Thomas, Paul J. Christos, Drew N. Wright, Steven Lipkin, Kenneth Offit, Melissa K. Frey

Research output: Contribution to journalReview articlepeer-review

11 Scopus citations


Purpose: Several professional organizations recommend universal genetic assessment for people with ovarian cancer as identifying pathogenic variants can affect treatment, prognosis, and all-cause mortality for patients and relatives. We sought to evaluate the literature on genetic assessment for women with ovarian cancer and determine if any interventions or patient characteristics drive utilization of services. Methods: We searched key electronic databases to identify trials that evaluated genetic assessment for people with ovarian cancer. Trials with the primary aim to evaluate utilization of genetic assessment with or without interventions were included. Eligible trials were subjected to meta-analysis and the moderating influence of health interventions on rates of genetic assessment were examined. Results: A total of 35 studies were included (19 report on utilization of genetic services without an intervention, 7 with an intervention, and 9 with both scenarios). Without an intervention, pooled estimates for referral to genetic counseling and completion of genetic testing were 39% [CI 27–53%] and 30% [CI 19–44%]. Clinician-facilitated interventions included: mainstreaming of genetic services (99% [CI 86–100%]), telemedicine (75% [CI 43–93%]), clinic-embedded genetic counselor (76% [CI 32–95%]), reflex tumor somatic genetic assessment (64% [CI 17–94%]), universal testing (57% [28–82%]), and referral forms (26% [CI 10–53%]). Random-effects pooled proportions demonstrated that Black vs. White race was associated with a lower rate of genetic testing (26%[CI 17–38%] vs. 40% [CI 25–57%]) as was being un-insured vs. insured (23% [CI 18–28%] vs. 38% [CI 26–53%]). Conclusions: Reported rates of genetic testing for people with ovarian cancer remain well below the goal of universal testing. Interventions such as mainstreaming can improve testing uptake. Strategies aimed at improving utilization of genetic services should consider existing disparities in race and insurance status.

Original languageEnglish
Pages (from-to)506-516
Number of pages11
JournalGynecologic Oncology
Issue number2
StatePublished - Aug 2021


  • Cascade testing
  • Genetic counseling
  • Genetic testing
  • Hereditary cancer syndromes
  • Ovarian cancer


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