Breast Cancer: Current Disparities in Care

Greater awareness, early diagnosis, and new treatments for breast cancer have decreased death rates by 40% over the last 30 years.¹ However, not all groups of women have benefited equally. For example, mortality from breast cancer remains markedly higher in Black women compared to White women—twice as high for those under 50 years of age.¹ Racial, ethnic, and socioeconomic disparities also exist in referrals for genetic counseling and testing for the 5% to 10% of women whose breast cancer is hereditary.² Consequently, minority women and men at increased risk for breast cancer (see Sidebar) are less likely to be identified at an early stage of the disease and may experience a poorer prognosis than their White counterparts.

This article will discuss breast cancer, including how genetic testing can be used to assess risk for hereditary breast cancer. Disparities in screening, treatment, mortality, genetic counseling, and testing for minority patients will be discussed, as well as potential solutions.

Hereditary Breast Cancer and Genetic Factors

Variants in a number of genes increase the risk of breast cancer. Some inherited variants such as BRCA1 and BRCA2 (also known as the breast cancer susceptibility 1 and 2 genes) increase the risk of breast cancer, as well as ovarian, prostate, and pancreatic cancer,³ and account for 20% to 25% of hereditary breast cancers.⁴ Other genes with hereditary variants associated with breast cancer include ATM, BARD1, BRIP1, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, and TP53.³

Assessing Risk

Professional organizations recommend that primary care providers assess whether women or men are at increased risk of having mutations in BRCA1 or BRCA2 based on personal or family history.^2,3,5 The most recent United States Preventive Services Task Force (USPSTF) guidelines expanded the population that should be assessed based on personal or family history.⁶ The population now includes women considered cancer-free who have been previously treated for breast, ovarian, peritoneal, or tubal cancers.⁶ In addition, ancestry associated with BRCA1/2 (founder) gene mutations is more explicitly included as a risk factor.⁶

Tools to help assess risk include the National Cancer Institute Breast Cancer Risk Assessment Tool, commonly known as the Gail model (BCRiskTool.Cancer.gov). This model has been tested mainly among White women. Further study is required to validate the model in other subgroups. For example, the model has performed well in White women but may underestimate risk in Black women with previous biopsies and Hispanic women born outside the United States (BCriskTool.cancer.gov/about.html).

Disparities in Breast Cancer Treatment and Mortality

Black women,¹ as well as Hispanic women,⁷ have higher death rates due to breast cancer than do their non-Hispanic White counterparts. The factors contributing to the survival disparity between races and ethnicities are undoubtedly complex and likely represent interplay between tumor biology, genomics, patterns of care, and socioeconomic factors.⁸

Analysis of over 11,000 women identified from the Surveillance, Epidemiology, and End Results (SEER)-Medicare database with invasive breast cancer diagnosed from 2006 to 2009 found that⁹

• Women whose socioeconomic status was defined as “poor” (those enrolled in Medicaid or a state buy-in program) or “near-poor” (those not enrolled in Medicaid or a state buy-in program, but ranked in the highest quartile of poverty) were less likely than women whose defined socioeconomic status (SES) was neither “poor” nor “near-poor” to receive sentinel lymph node biopsy and radiation after breast conserving surgery (BCS).
• Women whose SES was “poor” were less likely than other women to receive any axillary surgery and adjuvant chemotherapy.
• Women whose SES was “near-poor” who initiated hormonal therapy were more likely to rely exclusively on tamoxifen, and less likely to use the more expensive but more effective aromatase inhibitors, when compared to other women.

Disparities in Breast Cancer Genetic Counseling and Testing

Genetic counseling is a critical component of the cancer risk assessment. The National Comprehensive Cancer Network^® (NCCN^®) recommends that a genetic counselor, or a healthcare professional with experience in cancer genetics, provide counseling throughout the testing process.³ However, only 20% of high-risk breast cancer patients who meet national guidelines for genetic testing are referred for genetic testing, and testing rates are lower among racial and ethnic minorities, including Black women.⁸ An early study reported that Black non-Hispanic women meeting NCCN criteria for genetic testing for breast cancer risk are less likely than non-Hispanic White women to undergo testing.¹⁰ Subsequent studies have confirmed these disparities. Examples include

• Women diagnosed with invasive breast cancer at age 50 or younger:
  • Black and Spanish-speaking Hispanic women were significantly less likely than non-Hispanic White women to discuss genetic testing with a healthcare provider.¹¹
  • Risk-reducing mastectomy rates (for women who were BRCA carriers) were significantly lower among Black women compared to Hispanic (69% vs 82%, P=.025) and non-Hispanic White women (69% vs 96%, P=.008) after controlling for key clinical and demographic variables.¹¹
• Non-Hispanic Black women and Hispanic women were more likely to have advanced cancer at time of genetic testing compared to non-Hispanic women.¹²
• Of women with a BRCA1 or BRCA2 mutation, compared with all other ethnicities, non-Hispanic White women were more likely to undergo cancer screening and risk-reducing surgery (P=.04).¹²
• Black non-Hispanic women meeting select NCCN criteria for genetic counseling (breast cancer under age 50, or 2 primary breast cancers, or with triple-negative breast cancer under age 60) had significantly lower referral rates (76%) compared to non-Hispanic White women (93%) (P<.01).¹³

Solutions

Few concrete solutions have been developed and implemented to address disparities in care, but some interventions have been suggested:

• Improved awareness and risk-perception, through family and patient-provider communication aimed at expanding testing in minority populations¹⁴
• Addressing language, racial and ethnic, educational, and socioeconomic barriers¹⁵
• Addressing lack of medical coverage, barriers to early detection and screening, more advanced stage of disease at diagnosis among minorities, and unequal access to improvements in cancer treatment for racial/ethnic minorities¹⁶
• Improving health insurance coverage in vulnerable groups¹⁷
• Using “big data” as a research opportunity to improve minority health and reduce health disparities—the unique methods associated with big data collection and analyses may help identify reasons for disparities in healthcare and subsequently provide unique solutions¹⁸

Effect of the COVID-19 Pandemic

The National Breast and Cervical Cancer Early Detection Program (NBCCEDP) provides cancer screening services to women with low income and inadequate health insurance.¹⁹ A study showed that the total number of NBCCEDP-funded breast cancer screening tests declined by 87% during April 2020 compared with the previous 5-year averages for that month.¹⁹ The greatest declines were among American Indian/Alaskan Native women for breast cancer screening (98%). Similar results were noted for cervical cancer screening.

Breast Cancer Risk Factors 

Some of the risk factors for breast cancer that all women should be aware of include⁴

• Age: being over 50
• Menstruation: starting before age 12
• Menopause: starting after age 55
• Dense breasts
• Previous treatment with radiation therapy to the chest
• Diet and lifestyle: smoking, excessive alcohol, physical inactivity, overweight
• Family history: close relatives with certain types of cancer

The risk of having a gene variant associated with hereditary breast cancer is higher in individuals with^2,3,5

• A personal or family history of
  • Breast cancer before age 50
  • Cancer involving both breasts
  • A BRCA-related cancer (ie, breast, ovarian, pancreatic, prostate)
  • A rare cancer, such as sarcoma
• A male family member with breast cancer
• Multiple family members with breast cancer
• An Ashkenazi Jewish ethnicity

How the Laboratory Can Help

Quest offers the BRCA Panel to test for variants in the 2 high-risk genes (BRCA1, BRCA2) predominantly associated with breast cancer. In addition, Quest offers the BRCA Panel Plus test, which tests for variants in 5 genes in addition to BRCA1 and BRCA2: CDH1, PALB2, PTEN, STK11, and TP53. These genes are associated with a high risk for breast cancer, are clinically actionable³, and have management guidelines.³ For people of Ashkenazi Jewish decent, Quest offers the BRCA Ashkenazi Jewish Screen for the 3 BRCA variants commonly found in this population.

Quest also offers:

• The Hereditary Breast Cancer Panel (16 genes), which tests for variants in BRCA1, BRCA2, 9 other genes associated with breast cancer, and 5 genes associated with ovarian, uterine, colon, and other Lynch–syndrome related cancers.
• The Guideline-Based Hereditary Cancer Panel (32 genes), which tests for variants in BRCA1 and BRCA2 and 30 other genes that are associated with moderate and high risk for common cancers such as breast, colon, prostate, uterine (endometrial), ovarian, and pancreatic cancers, as well as melanoma. All the genes in this panel have associated management guidelines and are considered clinically actionable.3
• The Comprehensive Hereditary Cancer Panel, which tests for variants in 66 genes. This test evaluates genes associated with a broad spectrum of hereditary cancers, including common cancers and less common, such as neuroendocrine tumors. Some of the genes are associated with moderate to high risk for certain cancers, are clinically actionable, and are associated with established management guidelines. Other genes in this panel have been associated with risk for certain cancers, but the actual risk may not be well-defined, and management guidelines have not been established.
  

Board-certified genetic counselors are available for consultation with healthcare providers at 1.866.GENE.INFO (1.866.436.3463) or at DGXGeneInfo@questdiagnostics.com.

Quest also offers webinars to aid in understanding genetic testing for hereditary cancers. They are available at

• QuestDiagnostics.com/Presentations/Which-of-Your-Patients-Should-be-Offered-Genetic-Testing-for-Cancer-Risk-in-2019-?Presentation_id=450
• QuestDiagnostics.com/Presentations/Genetic-Testing-When-Should-You-Consider-Testing-Beyond-BRCA-?Presentation_id=455

Quest will verify insurance coverage of the test. If the patient’s estimated out-of-pocket cost is more than $100 for BRCA-related testing, the patient or the provider will be notified before testing is performed. Financial assistance may be available for qualified patients. Please visit QuestHereditaryCancer.com for more details.

References

1. Cancer facts & figures 2021. American Cancer Society. Accessed August 24, 2021. https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/annual-cancer-facts-and-figures/2021/cancer-facts-and-figures-2021.pdf

2. BRCA gene mutations: cancer risk and genetic testing. National Cancer Institute. Reviewed November 19, 2020. Accessed August 24, 2021. https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet

3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines^®). Genetic/familial high-risk assessment: breast, ovarian, and pancreatic. Version 1.2022. Updated August 11, 2021. Accessed September 27, 2021. http://www.nccn.org

4. What are the risk factors for breast cancer? Centers for Disease Control and Prevention. Reviewed September 14, 2020. Accessed August 24, 2021.   https://www.cdc.gov/cancer/breast/basic_info/risk_factors.htm

5. Robson ME, Bradbury AR, Arun B, et al. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2015;33(31):3660-3667. doi:10.1200/JCO.2015.63.0996

6. US Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force recommendation statement. JAMA. 2019;322(7):652-665. doi:10.1001/jama.2019.10987

7. Yedjou CG, Sims JN, Miele L, et al. Health and racial disparity in breast cancer. Adv Exp Med Biol. 2019;1152:31-49. doi:10.1007/978-3-030-20301-6_3

8. Reid S, Cadiz S, Pal T. Disparities in genetic testing and care among black women with hereditary breast cancer. Curr Breast Cancer Rep. 2020;12(3):125-131. doi:10.1007/s12609-020-00364-1

9. Dreyer MS, Nattinger AB, McGinley EL, et al. Socioeconomic status and breast cancer treatment. Breast Cancer Res Treat. 2018;167(1):1-8. doi:10.1007/s10549-017-4490-3

10. Armstrong K, Micco E, Carney A, et al. Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA. 2005;293(14):1729-1736. doi:10.1001/jama.293.14.1729

11. Cragun D, Weidner A, Lewis C, et al. Racial disparities in BRCA testing and cancer risk management across a population-based sample of young breast cancer survivors. Cancer. 2017;123(13):2497-2505. doi:10.1002/cncr.30621

12. Chapman-Davis E, Zhou ZN, Fields JC, et al. Racial and ethnic disparities in genetic testing at a hereditary breast and ovarian cancer center. J Gen Intern Med. 2021;36(1):35-42. doi:10.1007/s11606-020-06064-x

13. Peterson JM, Pepin A, Thomas R, et al. Racial disparities in breast cancer hereditary risk assessment referrals. J Genet Couns. 2020;29(4):587-593. doi:10.1002/jgc4.1250

14. Williams CD, Bullard AJ, O'Leary M, et al. Racial/ethnic disparities in BRCA counseling and testing: a narrative review. J Racial Ethn Health Disparities. 2019;6(3):570-583. doi:10.1007/s40615-018-00556-7

15. Sayani A. Inequities in genetic testing for hereditary breast cancer: implications for public health practice. J Community Genet. 2019;10(1):35-39. doi:10.1007/s12687-018-0370-8

16. Yedjou CG, Tchounwou PB, Payton M, et al. Assessing the racial and ethnic disparities in breast cancer mortality in the United States. Int J Environ Res Public Health. 2017;14(5):486. doi:10.3390/ijerph14050486

17. Ko NY, Hong S, Winn RA, et al. Association of insurance status and racial disparities with the detection of early-stage breast cancer. JAMA Oncol. 2020;6(3):385-392. doi:10.1001/jamaoncol.2019.5672

18. Cobb AN, Janjua HM, Kuo PC. Big data solutions for controversies in breast cancer treatment. Clin Breast Cancer. 2021;21(3):e199-e203. doi:10.1016/j.clbc.2020.08.003

19. DeGroff A, Miller J, Sharma K, et al. COVID-19 impact on screening test volume through the National Breast and Cervical Cancer early detection program, January-June 2020, in the United States. Prev Med. 2021;151:106559. doi:10.1016/j.ypmed.2021.106559

Models used for illustrative purposes only.

Published date: Oct 2021