The hereditary contribution to ovarian cancer has been increasingly recognized over the past decade, with a 2014 Society of Gynecologic Oncology (SGO) recommendation for all women with epithelial ovarian cancer to be considered for genetic testing. The objective of the study was to determine if disparities exist in genetic referrals and characterize referral patterns over time. A retrospective cohort study included all women diagnosed with invasive epithelial ovarian cancer at the University of Virginia from 2004 to 2015. Clinicopathologic data were abstracted from the electronic medical record and analyzed for association with genetic referral and testing. We identified 696 cases, with a median age of 62 years and a median follow up of 25.2 months (range 1–115). Thirty-four percent were referred for genetic counseling with an 80% genetic testing rate in those women. Referrals increased from a rate of 8% in 2004 to 68% in 2015. On multivariable analysis, papillary serous histology (OR 1.6, 95% CI 1.0–2.6), stage III disease (OR 3.4, 95% CI 1.6–7.5), ovarian cancer family history (OR 2.6, 95% CI 1.5–4.6), breast cancer family history (OR 1.7, 95% CI 1.1–2.5), and diagnosis after 2014 (OR 2.3, 95% CI 1.3–4.1) remained significantly associated with genetics referral. Older age and living > 100 miles away were associated with decreased referral (OR 0.97, 95% CI 0.95–0.99 per year and OR 0.49, 95% CI 0.28–0.86). As only 68% of women with epithelial ovarian cancer were referred in 2015 innovative strategies such as Medicare coverage for counseling are still needed to universalize testing.
Genetic counseling Hereditary cancer syndrome Ovarian cancer Familial cancer
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Funding for this study was provided by the Obstetrics and Gynecology Department at the University of Virginia.
Compliance with ethical standards
Conflict of interest
The authors declared that they have no conflict of interest.
Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250(4988):1684–1689CrossRefGoogle Scholar
Strattot M (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378(21):789–791Google Scholar
Ledermann JA, Harter P, Gourley C et al (2016) Overall Survival in patients with platinum-sensitive recurrent serous ovarian cancer receiving olaparib maintenance monotherapy: an updated analysis from a randomized, placebo-controlled, double-blind, phase 2 trial. Lancet Oncol 17:1579–1589CrossRefGoogle Scholar
Strickland KC, Howitt BE, Shukla SA et al (2016) Association and prognostic significance of BRCA1/2-mutation status with neoantigen load, number of tumor-infiltrating lymphocytes and expression of PD-1/PD-L1 in high grade serous ovarian cancer. Oncotarget 7(12):13587–13598CrossRefGoogle Scholar
Walsh T, Casadei S, Lee MK et al (2011) Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA 108(44):18032–18037CrossRefGoogle Scholar
Ring KL, Garcia C, Thomas MH, Modesitt SC (2017) Current and future role of genetic screening in gynecologic malignancies. Am J Obstet Gynecol 217(5):512–521CrossRefGoogle Scholar
Domchek SM, Friebel TM, Neuhausen SL et al (2006) Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol 7(3):223–229CrossRefGoogle Scholar
Domchek SM, Friebel TM, Singer CF et al (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304(9):967–975CrossRefGoogle Scholar
Petzel SV, Vogel R, Bensend T et al (2013) Genetic risk assessment for women with epithelial ovarian cancer: referral patterns and outcomes in a University Gynecologic Oncology Clinic. J Genet Couns 22(5):662–673CrossRefGoogle Scholar
Meyer LA, Anderson ME, Lacour RA et al (2010) Evaluating women with ovarian cancer for BRCA1 and BRCA2 mutations: missed opportunities. Obstet Gynecol 115(5):945–952CrossRefGoogle Scholar
Febbraro T, Robsion K, Wilbur JS et al (2015) Adherence patterns to National Comprehensive Cancer Network guidelines for referral to cancer genetic professionals. Gynecol Oncol 138:109–114CrossRefGoogle Scholar
Hereditary Breast and Ovarian Cancer Syndrome (2009) ACOG Practice Bulletin No. 103. American College of Obstetricians and Gynecologists. Obstet Gynecol 113:957–966CrossRefGoogle Scholar
Kolor K, Chen Z, Grosse SD et al (2017) BRCA genetic testing and receipt of preventive interventions among women aged 18-64 years with employer-sponsored health insurance in nonmetropolitan and metropolitan areas – United States, 2009-2014. MMWR Surveill Summ 66(15):1–11CrossRefGoogle Scholar
Moore K, Colombo N, Scambia G et al (2018) Maintenance olaparib in patients with newly diagnosed advanced ovarian cancer. N Engl J Med 379:2495–2505CrossRefGoogle Scholar
Colombo N, Huang G, Scambia G et al (2018) Evaluation of a streamlined oncologist-led BRCA mutation testing and counseling model for patients with ovarian cancer. J Clin Oncol 36(13):1300–1307CrossRefGoogle Scholar
Uyar D, Neary J, Monroe A, Nugent M, Simpson P, Geurts JL (2018) Implementation of a quality improvement project for universal genetic testing in women with ovarian cancer. Gynecol Oncol 149(3):565–569CrossRefGoogle Scholar
Swanson CL, Kumar A, Maharaj JM et al (2018) Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis. Gynecol Oncol 149(1):121–126CrossRefGoogle Scholar
Jacobs AS, Schwartz MD, Valdimarsdottir H et al (2016) Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer. Fam Cancer 15(4):529–539CrossRefGoogle Scholar
Schwartz MD, Valdimarsdottir HB, Peshkin BN et al (2014) Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol 32(7):618–626CrossRefGoogle Scholar