- •Reported rates of genetic testing for people with ovarian cancer remain well below the goal of universal testing.
- •Race and insurance status influence utilization of genetic services by women with ovarian cancer.
- •Promising interventions include mainstreaming genetic care, telemedicine, and embedding genetic counselors in the clinic.
- •The increased demand for testing coupled with the decreased supply of genetic counselors calls for novel approaches.
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.
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.
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%]).
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.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Gynecologic Oncology
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.Proc. Natl. Acad. Sci. U. S. A. Nov 2011; 108: 18032-18037https://doi.org/10.1073/pnas.1115052108
- Maintenance olaparib in patients with newly diagnosed advanced ovarian cancer.N. Engl. J. Med. 12 2018; 379: 2495-2505https://doi.org/10.1056/NEJMoa1810858
- BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian ovarian cancer study group.J. Clin. Oncol. Jul 2012; 30: 2654-2663https://doi.org/10.1200/JCO.2011.39.8545
- The role of BRCA status on the prognosis of patients with epithelial ovarian cancer: a systematic review of the literature with a meta-analysis.PLoS One. 2014; 9e95285https://doi.org/10.1371/journal.pone.0095285
- Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.JAMA. 06 2017; 317: 2402-2416https://doi.org/10.1001/jama.2017.7112
- Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian.Cancer. Jan 2015; 121: 269-275https://doi.org/10.1002/cncr.29041
- Prospective feasibility trial of a novel strategy of facilitated cascade genetic testing using telephone counseling.J. Clin. Oncol. Jan 2020; JCO1902005https://doi.org/10.1200/JCO.19.02005
- Current and future role of genetic screening in gynecologic malignancies.Am. J. Obstet. Gynecol. 11 2017; 217: 512-521https://doi.org/10.1016/j.ajog.2017.04.011
- Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study.Lancet Oncol. Mar 2006; 7: 223-229https://doi.org/10.1016/S1470-2045(06)70585-X
- Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.JAMA. Sep 2010; 304: 967-975https://doi.org/10.1001/jama.2010.1237
- Practice bulletin No 182: Hereditary breast and ovarian cancer syndrome.Obstet. Gynecol. 09 2017; 130: e110-e126https://doi.org/10.1097/AOG.0000000000002296
- NCCN guidelines insights: genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 1.2020.J. Natl. Compr. Cancer Netw. 04 2020; 18: 380-391https://doi.org/10.6004/jnccn.2020.0017
- Multi-disciplinary summit on genetics services for women with gynecologic cancers: a society of gynecologic oncology white paper.Gynecol. Oncol. 08 2017; 146: 217-224https://doi.org/10.1016/j.ygyno.2017.06.002
- Germline and somatic tumor testing in epithelial ovarian Cancer: ASCO guideline summary.JCO Oncol. Pract. Aug 2020; 16: e835-e838https://doi.org/10.1200/JOP.19.00773
- Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US preventive services task force recommendation statement.JAMA. 08 2019; 322: 652-665https://doi.org/10.1001/jama.2019.10987
- Genetic Testing for Ovarian Cancer (SGO, October 14).
- Disparities in gynecologic cancer genetics evaluation.Gynecol. Oncol. 04 2019; 153: 184-191https://doi.org/10.1016/j.ygyno.2019.01.024
- Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling?.Int. J. Gynecol. Cancer. Mar 2013; 23: 431-436https://doi.org/10.1097/IGC.0b013e318280f2b4
- Year 1: experiences of a tertiary cancer Centre following implementation of reflex BRCA1 and BRCA2 tumor testing for all high-grade serous ovarian cancers in a universal healthcare system.Gynecol. Oncol. Sep 2020; 158: 747-753https://doi.org/10.1016/j.ygyno.2020.06.507
- Evaluating women with ovarian cancer for BRCA1 and BRCA2 mutations: missed opportunities.Obstet. Gynecol. May 2010; 115: 945-952https://doi.org/10.1097/AOG.0b013e3181da08d7
- The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate healthcare interventions: explanation and elaboration.BMJ. Jul 2009; 339: b2700https://doi.org/10.1136/bmj.b2700
- ROBINS-I: a tool for assessing risk of bias in non-randomised studies of interventions.BMJ. Oct 2016; 355: i4919https://doi.org/10.1136/bmj.i4919
- Methodological guidance for systematic reviews of observational epidemiological studies reporting prevalence and cumulative incidence data.Int. J. Evid. Based Healthc. Sep 2015; 13: 147-153https://doi.org/10.1097/XEB.0000000000000054
- GRADEpro Guideline Development Tool [Software].McMaster University, 2020 (developed by Evidence Prime, Inc.)
- GRADE guidelines: 1. Introduction-GRADE evidence profiles and summary of findings tables.J. Clin. Epidemiol. Apr 2011; 64: 383-394https://doi.org/10.1016/j.jclinepi.2010.04.026
- Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.Sci. Rep. 2016; 6: 29506https://doi.org/10.1038/srep29506
- Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care.Genet. Med. 07 2020; 22: 1149-1155https://doi.org/10.1038/s41436-020-0785-6
- Mainstreamed genetic testing for women with ovarian cancer: first-year experience.J. Med. Genet. 03 2019; 56: 195-198https://doi.org/10.1136/jmedgenet-2017-105140
- Oncologist-led BRCA ‘mainstreaming’ in the ovarian cancer clinic: a study of 255 patients and its impact on their management.Sci. Rep. 02 2020; 103390https://doi.org/10.1038/s41598-020-60149-5
- Uptake of testing for germline.Int. J. Gynecol. Cancer. 07 2019; 29: 1038-1042https://doi.org/10.1136/ijgc-2019-000389
- Current and Future Applications of Telemedicine to Optimize the Delivery of Care in Chronic Liver Disease.Clin. Gastroenterol. Hepatol. 02 2018; 16: 157-161.e8https://doi.org/10.1016/j.cgh.2017.10.004
- Video-assisted genetic counseling in patients with ovarian, fallopian and peritoneal carcinoma.Gynecol. Oncol. 10 2016; 143: 109-112https://doi.org/10.1016/j.ygyno.2016.07.094
- Mainstreaming cancer genetics: A model integrating germline BRCA testing into routine ovarian cancer clinics.Gynecol. Oncol. 04 2017; 145: 130-136https://doi.org/10.1016/j.ygyno.2017.01.030
- Genetic consultation embedded in a gynecologic oncology clinic improves compliance with guideline-based care.Gynecol. Oncol. 10 2017; 147: 110-114https://doi.org/10.1016/j.ygyno.2017.07.141
- Identifying patients with a history of ovarian cancer for referral for genetic counselling: non-randomised comparison of two case-finding strategies in primary care.Br. J. Gen. Pract. Nov 2018; 68: e750-e756https://doi.org/10.3399/bjgp18X699533
- Genetic risk assessment for women with epithelial ovarian cancer: referral patterns and outcomes in a university gynecologic oncology clinic.J. Genet. Couns. Oct 2013; 22: 662-673https://doi.org/10.1007/s10897-013-9598-y
- Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis.Gynecol. Oncol. 04 2018; 149: 121-126https://doi.org/10.1016/j.ygyno.2018.01.033
- Direct genetics referral pathway for high-grade serous ovarian cancer patients: the “opt-out” process.J. Oncol. 2019; 2019: 6029097https://doi.org/10.1155/2019/6029097
- Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression.Gynecol. Oncol. 2020; 157 (PMID: 32057464): 280-286https://doi.org/10.1016/j.ygyno.2020.01.007
- Referral of ovarian cancer patients for genetic counselling by oncologists: need for improvement.Public Health Genomics. 2015; 18: 225-232https://doi.org/10.1159/000431352
- Homologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature.Gynecol. Oncol. Res. Pract. 2017; 4: 4https://doi.org/10.1186/s40661-017-0039-8
- Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening parpi treatment and genetic predisposition.J. Natl. Cancer Inst. 02 2020; 112: 161-169https://doi.org/10.1093/jnci/djz080
- Factors associated with referral and completion of genetic counseling in women with epithelial ovarian cancer.Int. J. Gynecol. Cancer. Sep 2020; 30: 1397-1403https://doi.org/10.1136/ijgc-2019-001168
- Adherence patterns to National Comprehensive Cancer Network (NCCN) guidelines for referral to cancer genetic professionals.Gynecol. Oncol. Jul 2015; 138: 109-114https://doi.org/10.1016/j.ygyno.2015.04.029
- Genetic counseling referral for ovarian cancer patients: a call to action.Familial Cancer. Apr 2019; https://doi.org/10.1007/s10689-019-00129-5
- Identifying disparities in germline and somatic testing for ovarian cancer.Gynecol. Oncol. 05 2019; 153: 297-303https://doi.org/10.1016/j.ygyno.2019.03.007
- Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients.J. Clin. Oncol. 05 2019; 37: 1305-1315https://doi.org/10.1200/JCO.18.01854
- Patterns and predictors of genetic referral among ovarian cancer patients at a National Cancer Institute-Comprehensive Cancer Center.Clin. Genet. 02 2020; 97: 370-375https://doi.org/10.1111/cge.13654
- Disparities in genetics assessment for women with ovarian cancer: can we do better?.Gynecol. Oncol. 04 2018; 149: 84-88https://doi.org/10.1016/j.ygyno.2017.10.034
- Uptake of clinical genetic testing for ovarian cancer in Ontario: a population-based study.Gynecol. Oncol. Jan 2009; 112: 68-72https://doi.org/10.1016/j.ygyno.2008.10.007
- The time for mainstreaming germline testing for patients with breast cancer is now.J. Clin. Oncol. 08 2019; 37: 2177-2178https://doi.org/10.1200/JCO.19.00160
- Advances in genetic testing in patients with breast cancer, high-quality decision making, and responsible resource allocation.J. Clin. Oncol. 02 2019; 37: 445-447https://doi.org/10.1200/JCO.18.01952
- The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients.Gynecol. Oncol. Aug 2020; 158: 431-439https://doi.org/10.1016/j.ygyno.2020.05.001
- Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression.Gynecol. Oncol. 04 2020; 157: 280-286https://doi.org/10.1016/j.ygyno.2020.01.007
- Large, prospective analysis of the reasons patients do not pursue BRCA genetic testing following genetic counseling.J. Genet. Couns. Aug 2017; 26: 859-865https://doi.org/10.1007/s10897-016-0064-5
- Factors associated with decisions about clinical BRCA1/2 testing.Cancer Epidemiol. Biomark. Prev. Nov 2000; 9: 1251-1254
- Uptake rates for breast cancer genetic testing: a systematic review.Cancer Epidemiol. Biomark. Prev. May 2006; 15: 840-855https://doi.org/10.1158/1055-9965.EPI-05-0002
- The role of financial factors in acceptance of clinical BRCA genetic testing.Genet. Test. 2007; 11: 101-110https://doi.org/10.1089/gte.2006.9999
- Factors associated with an individual’s decision to withdraw from genetic testing for breast and ovarian cancer susceptibility: implications for counseling.Genet. Test. 2007; 11: 45-54https://doi.org/10.1089/gte.2006.9998
- Psychosocial predictors of BRCA counseling and testing decisions among urban African-American women.Cancer Epidemiol. Biomark. Prev. Dec 2002; 11: 1579-1585
- Disparities in BRCA testing: when insurance coverage is not a barrier.Am. J. Surg. Oct 2009; 198: 562-565https://doi.org/10.1016/j.amjsurg.2009.07.003
- Men’s decision-making about predictive BRCA1/2 testing: the role of family.J. Genet. Couns. Jun 2005; 14: 207-217https://doi.org/10.1007/s10897-005-0384-3
- Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer.JAMA. Apr 2005; 293: 1729-1736https://doi.org/10.1001/jama.293.14.1729
- The association between race and attitudes about predictive genetic testing.Cancer Epidemiol. Biomark. Prev. Mar 2004; 13: 361-365
- Development and testing of the health care system distrust scale.J. Gen. Intern. Med. Jan 2004; 19: 57-63https://doi.org/10.1111/j.1525-1497.2004.21146.x
- Racial and ethnic disparities in genetic testing at a hereditary breast and ovarian cancer center.J. Gen. Intern. Med. Jul 2020; https://doi.org/10.1007/s11606-020-06064-x
- Genetic counseling globally: where are we now?.Am. J. Med. Genet. C: Semin. Med. Genet. 03 2018; 178: 98-107https://doi.org/10.1002/ajmg.c.31607
- Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics.Genet. Med. Jun 2015; 17: 505-507https://doi.org/10.1038/gim.2015.41
Published online: May 19, 2021
Accepted: May 8, 2021
Received: March 10, 2021
© 2021 Elsevier Inc. All rights reserved.