- •The number of women with SOC referred for genetic counseling and seen for genetic testing increased from previous reports.
- •A significant number of BRCA1/2 carriers report no family history of breast or ovarian cancer.
- •Low tumor grade and late age of diagnosis are barriers to genetic counseling referral for women with SOC.
Despite guidelines recommending that all women with invasive serous ovarian cancer (SOC) are offered genetic testing, published referral and testing rates have been poor. Many centers have implemented novel genetic counseling service delivery models to increase testing rates. In light of increased awareness and implementation of small process changes at our center, this study aims to establish baseline referral rates and testing outcomes prior to diverging from the traditional model of care.
A list of women diagnosed with SOC at Princess Margaret Cancer Center (PM) between 2010 and 2016 was obtained from the PM Cancer Registry and cross-referenced against the genetics database to determine referral rates and outcomes of genetic testing.
Of 724 women with SOC, 68% were referred for genetic counseling, with an overall testing rate of 61%. Higher referral rates were seen among women with younger ages at diagnosis and high-grade tumors. Of women tested, 22% were found to have a pathogenic variant in BRCA1/2 and 9% in another cancer gene. Notably, 24% of women with a pathogenic variant reported no family history of breast or ovarian cancer.
Genetic counseling referral and testing rates for women with SOC are higher than previously reported, yet barriers to referral remain. To maximize genetic testing rates and address increasing patient volumes, clinics may be faced with integrating novel genetic counseling delivery models. Findings from this study may serve as a more accurate baseline to which large scale service delivery changes can be compared.
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
- Canadian Cancer Statistics 2019.Canadian Cancer Society, Toronto, ON2019
- Cancer Facts & Figures 2019.American Cancer Society, Atlanta, GA2019
- Ovarian cancer statistics, 2018.CA Cancer J. Clin. 2018; 68: 284-296
- Inherited mutations in women with ovarian carcinoma.JAMA Oncol. 2016; 2: 482-490
- Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.Gynecol. Oncol. 2011; 121: 353-357
- Prevalence of BRCA1 and BRCA2 germ line mutations among women with carcinoma of the fallopian tube.Gynecol. Oncol. 2010; 118: 299-302
- Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).PLoS One. 2017; 12e0186043
- 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. 2012; 30: 2654-2663
- Keeping it simple: genetics referrals for all invasive serous ovarian cancers.Gynecol. Oncol. 2013; 130: 329-333
- Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.Sci. Rep. 2016; 6: 29506
- Multi-disciplinary summit on genetics services for women with gynecologic cancers: a Society of Gynecologic Oncology White Paper.Gynecol. Oncol. 2017; 146: 217-224
- A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Genet. Med. 2015; 17: 70-87
- Genetic/Familial High-risk Assessment: Breast, Ovarian, and Pancreatic.National Comprehensive Cancer Network, Inc., 2019
- Practice bulletin no 182: hereditary breast and ovarian cancer syndrome.Obstet. Gynecol. 2017; 130: e110-e126
- Germline and somatic tumor testing in epithelial ovarian cancer: ASCO guideline.J. Clin. Oncol. 2020; 38 (Epub 2020 Jan 27): 1222-1245https://doi.org/10.1200/JCO.19.02960
- National estimates of genetic testing in women with a history of breast or ovarian cancer.J. Clin. Oncol. 2017; 35: 3800-3806
- Genetics consultation rates following a diagnosis of high-grade serous ovarian carcinoma in the Canadian Province of Ontario.Int. J. Gynecol. Cancer. 2017; 27: 437-443
- Adherence patterns to National Comprehensive Cancer Network (NCCN) guidelines for referral to cancer genetic professionals.Gynecol. Oncol. 2015; 138: 109-114
- Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: a review of the literature.CA Cancer J. Clin. 2017; 67: 493-506
- Timing of referral for genetic counseling and genetic testing in patients with ovarian, fallopian tube, or primary peritoneal carcinoma.Int. J. Gynecol. Cancer. 2013; 23: 1016-1021
- Cancer genetic counseling and testing: perspectives of epithelial ovarian cancer patients and gynecologic oncology healthcare providers.J. Genet. Couns. 2018; 27: 177-186
- There is no decision to make: experiences and attitudes toward treatment-focused genetic testing among women diagnosed with ovarian cancer.Gynecol. Oncol. 2012; 124: 153-157
- Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap.J. Med. Genet. 2018; 55: 571-577
- A population-based analysis of germline BRCA1 and BRCA2 testing among ovarian cancer patients in an era of histotype-specific approaches to ovarian cancer prevention.BMC Cancer. 2018; 18: 254
- Direct genetics referral pathway for high-grade serous ovarian cancer patients: the “opt-out” process.J. Oncol. 2019; 2019: 6029097
- Impact of clinical genetics attendance at a gynecologic oncology tumor board on referrals for genetic counseling and BRCA mutation testing.Int. J. Gynecol. Cancer. 2016; 26: 892-897
- Mainstreaming cancer genetics: a model integrating germline BRCA testing into routine ovarian cancer clinics.Gynecol. Oncol. 2017; 145: 130-136
- Genetic consultation embedded in a gynecologic oncology clinic improves compliance with guideline-based care.Gynecol. Oncol. 2017; 147: 110-114
- Report from the National Society of Genetic Counselors service delivery model task force: a proposal to define models, components, and modes of referral.J. Genet. Couns. 2012; 21: 645-651
- Evaluation of a streamlined oncologist-led BRCA mutation testing and counseling model for patients with ovarian cancer.J. Clin. Oncol. 2018; 36: 1300-1307
- All in the family: barriers and motivators to the use of cancer family history questionnaires and the impact on attendance rates.J. Genet. Couns. 2015; 24: 822-832
- Patterns and predictors of genetic referral among ovarian cancer patients at a National Cancer Institute-Comprehensive Cancer Center.Clin. Genet. 2020; 97: 370-375
- Referral patterns for genetic counselling of women diagnosed with tubo- ovarian or peritoneal high- grade serous carcinoma (HGSC) within the Auckland Gynaecological Oncology Centre.Aust. N. Z. J. Obstet. Gynaecol. 2019; 59: 444-449
- Genetic counselling referral rates and uptake of BRCA1 and BRCA2 testing among women diagnosed with serous ovarian cancer in a tertiary care cancer centre.J. Genet. Syndr. Gene Ther. 2013; 4https://doi.org/10.4172/2157-74121000156. 2013;4
- Referral of ovarian cancer patients for genetic counselling by oncologists: need for improvement.Publ. Health Genom. 2015; 18: 225-232
- Genetic risk assessment for women with epithelial ovarian cancer: referral patterns and outcomes in a university gynecologic oncology clinic.J. Genet. Couns. 2013; 22: 662-673
- The sooner the better: genetic testing following ovarian cancer diagnosis.Gynecol. Oncol. 2015; 137: 423-439
- A universal genetic testing initiative for patients with high-grade, non-mucinous epithelial ovarian cancer and the implications for cancer treatment.Gynecol. Oncol. 2017; 146: 399-404
- Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial.Lancet Oncol. 2014; 15: 852-861
- Maintenance olaparib in patients with newly diagnosed advanced ovarian cancer.N. Engl. J. Med. 2018; 379: 2495-2505
Published online: June 03, 2020
Accepted: May 10, 2020
Received: March 10, 2020
© 2020 Elsevier Inc. All rights reserved.