Highlights
- •Despite increases in the rate of testing for BRCA and Lynch syndrome, many high-risk women remain unidentified.
- •Underserved populations who do not access genetics services are at risk of missing opportunities for cancer prevention.
- •Socioeconomic factors, poor communication, concerns about misuse of genetic data contribute to poor use of genetic services.
- •Research is needed to specifically identify barriers to receipt and use of cancer genetics services.
Abstract
An estimated 2–5% of endometrial cancers and 15–20% of high-grade, non-mucinous epithelial
ovarian cancers have an underlying hereditary cause. Appropriate risk assessment,
genetic counseling, and germline genetic testing for cancer predisposition genes in
both gynecologic cancer patients and their at-risk relatives is essential for effective
delivery of tailored cancer treatment and cancer prevention. However, significant
disparities exist within medically underserved and minority populations in the United
States regarding awareness of, access to, and use of genetic services. The objectives
of this review are to summarize the literature on genetic counseling and genetic testing
of gynecologic cancer patients, the cascade genetic testing of their families following
the identification of a germline mutation associated with susceptibility to cancer,
to highlight disparities between populations, and to present some potential remedies.
Keywords
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 accessOne-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 OncologyAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Inherited mutations in women with ovarian carcinoma.JAMA Oncol. 2016; 2: 482-490
- 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
- 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; 9
- Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers..JAMA. 2017; 317: 2402-2416
- Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian.Cancer. 2015; 121: 269-275
- Features of ovarian cancer in Lynch syndrome (review).Mol. Clin. Oncol. 2014; 2: 909-916
- Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.Cancer Res. 2006; 66: 7810-7817
- Adam M.P. Ardinger H.H. Pagon R.A. Lynch syndrome. University of Washington, Seattle, Seattle (WA)2004 Feb 5 (Available from:) (GeneReviews® [internet], 1993-2019, [Updated 2018 Apr 12])
- “Genetic/familial high-risk assessment: breast and ovarian,” version 1.in: NCCN Clinical Practice Guidelines in Oncology. 2007
- Society of gynecologic oncology statement on risk assessment for inherited gynecologic cancer predispositions.Gynecol. Oncol. 2015; 136: 3-7
- Multi-disciplinary summit on genetics services for women with gynecologic cancers: a Society of Gynecologic Oncology White Paper.Gynecol. Oncol. 2017; 146: 217-224
- "Genetic/familial high-risk assessment: Colorectal," version 1.in: NCCN Clinical Practice Guidelines in Oncology. 2018
- Acculturation and familiarity with, attitudes towards and beliefs about genetic testing for cancer risk within Latinas in East Harlem, New York City.J. Genet. Couns. 2009; 18: 60-71
- Perceived disadvantages and concerns about abuses of genetic testing for cancer risk: differences across African American Latina and Caucasian women.Patient Educ. Couns. 2003; 51: 217-227
- "Cascade testing: testing women for known hereditary genetic mutations associated with cancer," ACOG Committee opinion no.737.Obstet. Gynecol. 2018; 131: e31-e34
- “Genetic/familial high-risk assessment: breast and ovarian,” version 2.in: NCCN Clinical Practice Guidelines in Oncology. 2019
- Evaluating women with ovarian cancer for BRCA1 and BRCA2 mutations: missed opportunities.Obstet. Gynecol. 2010; 115: 945-952
- Disparities in genetics assessment for women with ovarian cancer: can we do better.Gynecol. Oncol. 2018; 149: 84-88
- Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling?.Int. J. Gynecol. Cancer. 2013; 23: 431-436
- Improving referral for genetic risk assessment in ovarian cancer using an electronic medical record system.Int. J. Gynecol. Cancer. 2014; 24: 1003-1009
- Adherence patterns to National Comprehensive Cancer Network (NCCN) guidelines for referral to cancer genetic professionals.Gynecol. Oncol. 2015; 138: 109-114
- Underuse of BRCA testing in patients with breast and ovarian cancer.Am. J. Obstet. Gynecol. 2016; 214: 761-763
- National estimates of genetic testing in women with a history of breast or ovarian cancer.J. Clin. Oncol. 2017; 35: 3800-3806
- Implementation of a quality improvement project for universal genetic testing in women with ovarian cancer.Gynecol. Oncol. 2018; 149: 565-569
- Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis.Gynecol. Oncol. 2018; 149: 121-126
- BRCA1 and BRCA2 testing in medically underserved medicare beneficiaries with breast or ovarian cancer.JAMA. 2018; 320: 597-598
- Identifying “ownership” through role de-scriptions to support implementing universal colorectal cancer tumor screening for Lynch syndrome.Genet. Med. 2017; 19: 1236
- Universal screening of both endometrial and colon cancers increases the detection of Lynch syndrome.Cancer. 2018; 124: 3145-3153
- Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for lynch syndrome.Gynecol. Oncol. 2014; 134: 319-325
- Universal screening for Lynch syndrome in endometrial cancers: frequency of germline mutations and identification of patients with Lynch-like syndrome.Hum. Pathol. 2017; 70: 121-128
- Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center.Gynecol. Oncol. 2013; 130: 121-126
- Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing.Gynecol. Oncol. 2015; 137: 7-13
- Missed opportunities: genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer.Gynecol. Oncol. 2018; 151: 153-158
- Endometrial cancer patients and compliance with genetic counseling: room for improvement.Gynecol. Oncol. 2011; 123: 532-536
- Testing participation in BRCA1/2 -positive families: initiator role of index cases.Genet. Test. 2003; 7: 225-233
- Family communication of BRCA1/2 results and family uptake of BRCA1/2 testing in a diverse population of BRCA1/2 carriers.J. Genet. Couns. 2013; 22: 603-612
- Family communication about positive BRCA1 and BRCA2 genetic test results.Genet. Med. 2004; 6: 503-509
- Uptake of genetic testing by relatives of lynch syndrome probands: a systematic review.Clin. Gastroenterol. Hepatol. 2013; 11: 1093-1100
- Evaluating the utilization of educational materials in communicating about Lynch syndrome to at-risk relatives.Familial Cancer. 2014; 13: 381-389
- Communication of BRCA results and family testing in 1,103 high-risk women.Cancer Epidemiol. Biomark. Prev. 2010; 19: 2211-2219
- Barriers to genetic testing for breast cancer risk among ethnic minority women: an exploratory study.Ethn. Dis. 2012; 22: 267-273
- Psychosocial predictors of BRCA counseling and testing decisions among urban African-American women.Cancer Epidemiol. Biomark. Prev. 2002; 11: 1579-1585
- Health care segregation, physician recommendation, and racial disparities in BRCA1/2 testing among women with breast cancer.J. Clin. Oncol. 2016; 34: 2610-2618
- What hinders minority ethnic access to cancer genetics services and what may help.Eur. J. Hum. Genet. 2014; 22: 866-874
- Confronting genetic testing disparities: knowledge is power.J. Am. Med. Assoc. 2005; 293: 1783-1785
- Medical mistrust influences black women's level of engagement in BRCA1/2 genetic counseling and testing.J. Natl. Med. Assoc. 2013; 105: 17-22
- Factors influencing perceptions of breast cancer genetic counseling among women in an urban health care system.J. Genet. Couns. 2007; 16: 735-753
- Influence of race/ethnicity on genetic counseling and testing for hereditary breast and ovarian cancer.Breast J. 2009; 15: S56-S62
- Institute of Medicine, Innovations in Service Delivery in the Age of Genomics: Workshop Summary, Genetic Service Delivery: The Current System and Its Strengths and Challenges.National Academies Press, Washington, D.C.2009 (editor, Institute)
- Prevention for those who can pay: insurance reimbursement of genetic-based preventive interventions in the liminal state between health and disease.J. Law Biosci. 2015; 2: 365-395
- Consumer awareness and attitudes about insurance discrimination post enactment of the Genetic Information Nondiscrimination Act.Familial Cancer. 2012; 11: 637-644
- BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.Ann. Oncol. 2015; 26: 2057-2065
- Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the prospective registry of multiplex testing.J. Clin. Oncol. 2016; 34: 4071-4078
- Duty to warn at-risk relatives for genetic disease: genetic counselors' clinical experience.Am. J. Med. Genet. 2003; 119C: 27-34
- Preparing individuals to communicate genetic test results to their relatives: report of a randomized control trial.Familial Cancer. 2013; 12: 537-546
- The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation.J. Med. Genet. 2004; 41: e23
- Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations.Genet. Test. 2008; 12: 81-91
- Proband family uptake of familial-genetic counselling.Psychooncology. 2000; 9: 522-527
- Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication.Eur. J. Hum. Genet. 2016; 24: 356-360
- Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder.J. Med. Genet. 2006; 43: 665-670
- Increased genetic counseling support improves communication of genetic information in families.Genet. Med. 2008; 10: 167-172
- Providing a community-based cancer risk assessment service for a socially and ethnically diverse population.Familial Cancer. 2007; 6: 189-195
- The impact of genetic outreach education and support to primary care on practitioner's confidence and competence in dealing with familial cancers.Commun. Genet. 2008; 11: 289-294
- Models of service delivery for cancer genetic risk assessment and counseling.J. Genet. Couns. 2014; 23: 239-253
- 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
- Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations.J. Med. Genet. 2016; 53: 472-480
- Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer.J. Clin. Oncol. 2014; 32: 618-626
Article info
Publication history
Published online: January 30, 2019
Accepted:
January 25,
2019
Received in revised form:
January 22,
2019
Received:
November 7,
2018
Identification
Copyright
© 2019 Elsevier Inc. All rights reserved.
