BRCA Gene Testing

BRCA gene mutations increase cancer risk.

BRCA1 and BRCA2 are tumor suppressor genes (Centers for Disease Control and Prevention (CDC) 2023a). Mutations in either BRCA gene increase the risk of breast, ovarian, prostate, and pancreatic cancer (Mayo Clinic 2023, Basser Center for BRCA).

• 1 in 500 U.S. women have a BRCA mutation, while the rate for men is unknown (CDC 2023b).
• Individuals of Ashkenazi Jewish descent have an increased risk of having a BRCA mutation (National Cancer Institute (NCI) 2020).
• Black Americans have specific BRCA mutations that are not present in other racial or ethnic groups in the U.S. (Kurian 2010).

BRCA testing looks for DNA mutations in the BRCA1 and BRCA2 genes (Mayo Clinic 2023). A London study found that current BRCA testing detects about 5% of mutation carriers in the general population.

In the U.S., racial and ethnic minorities are less likely to receive BRCA testing (Williams et al. 2019). Despite Black women’s awareness of BRCA mutation risks, they are less likely to be referred to genetic counseling awareness of BRCA mutation risks. Black women are twice as likely to die from breast cancer compared to white women (Iqbal et al. 2015).

Private and public insurances differ in BRCA testing coverage.

Under the Affordable Care Act, private group and individual insurance plans and Medicaid expansion programs must cover BRCA-related cancer risk assessment, genetic counseling, and genetic testing (KFF 2019). BRCA testing requirements must follow U.S. Preventive Services Task Force (USPTF) recommendations.

• Most states do not provide BRCA testing coverage in traditional Medicaid programs (Figure 1; KFF 2022).

The USPSTF recommends that BRCA mutations should be tested when a woman has personal or family history that suggests an inherited cancer risk (USPTF 2019). USPSTF only has recommendations for women.

• When a woman does not have cancer, BRCA testing should begin with a relative with known BRCA related cancer to determine if a significant mutation is present before testing the woman.
• If a relative with BRCA does not exist, the relative with the highest probability of a BRCA mutation should be tested first.

Under the national coverage determination for Medicare, an individual must have a personal history of cancer along with other requirements to qualify for genetic mutation testing (Centers for Medicare & Medicaid Services 2020).

LA has enacted a regulation to require health insurance to cover genetic and molecular testing for cancer risk. IL, AZ, and RI require health insurance to cover biomarker testing for the diagnosis, treatment, management, or monitoring of any medical condition.

• Biomarker testing looks for genes, proteins, and other tumor markers that give information about a person’s cancer (NCI 2021).

A study of women with breast cancer found a quarter of eligible patients were denied insurance coverage for BRCA testing (Sharma et al. 2014). The study also found that 16% of mutation carriers did not have insurance coverage for BRCA testing.

There is mixed support for the cost-effectiveness of covering BRCA testing.

Several studies have studied the cost-effectiveness of universal BRCA testing, weighing the costs and quality of life gained from either universal BRCA testing or testing based on clinical guidelines. One study showed universal screening for BRCA mutations in women is not cost-effective for the individual when BRCA testing prices are set at $250 (Long & Ganz 2015). This calculation only considers the treatment cost and quality of life gained from testing.

However, another study accounts for lost earnings during cancer treatment and contribution to the workforce (Manchanda et al. 2020).

• They found that universal BRCA testing of women is more cost-effective for individuals and society compared to clinical testing guidelines.
• Universal BRCA testing would lead to cost savings and a greater reduction in breast and ovarian cancer cases and deaths.

BRCA testing of healthy but high-risk women and cascade testing (testing women with cancer along with their family) is more cost effective than just testing high-risk women (Koldehoff et al. 2021).

Figure 1. Medicaid coverage of BRCA testing. Medicaid expansion programs are required to cover BRCA testing. Not all traditional Medicaid programs cover BRCA testing. Data from KFF 2022, KFF 2024).

References

Centers for Disease Control and Prevention. (2023a). Hereditary Breast Cancer and BRCA Genes. https://www.cdc.gov/cancer/breast/.

Centers for Disease Control and Prevention. (2023b). BRCA Gene Mutations. Accessed February 21, 2024. https://www.cdc.gov/cancer/breast/young_women/bringyourbrave/.

Centers for Medicare & Medicaid Services. (2020). Next Generation Sequencing (NGS). https://www.cms.gov/medicare-coverage-database/view/ncd.aspx?NCDId=372.

HB 1779. 102nd General Assembly. (Ill. 2021). https://www.ilga.gov/legislation/.

HB 2144. 55th Legislature 2nd Regular Session. (Ariz. 2022). https://apps.azleg.gov/BillStatus/BillOverview/76553.

Iqbal J, Ginsburg P, Rochon P, Sun P, & Narod SA. (2015). Differences in Breast Cancer Stage at Diagnosis and Cancer-Specific Survival by Race and Ethnicity in the United States. JAMA. 313(2), 165-173. https://jamanetwork.com/journals/jama/fullarticle/2089353.

KFF. (2019). Coverage of Breast Cancer Screening and Prevention Services. https://www.kff.org/womens-health-policy/.

KFF. (2022). Medicaid Coverage of Family Planning Benefits: Findings from a 2021 State Survey. https://www.kff.org/womens-health-policy/report/medicaid.

KFF. (2024). Status of State Medicaid Expansion Decisions: Interactive Map. https://www.kff.org/womens-health-policy/report/.

Koldehoff A, Danner M, Civello D, Rhiem K, et al. (2021). Cost-Effectiveness of Target Genetic Testing for Breast and Ovarian Cancer: A Systematic Review. Value Health. 24(2), 303-312. https://www.sciencedirect.com/science/article/pii/S1098301520344582.

Kurian AW. (2010). BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications. Current Opinion in Obstetrics and Gynecology. 22(1), 72-78. https://journals.lww.com/co-obgyn/.

Long EF, & Ganz PA. (2015). Cost-effectiveness of Universal BRCA1/2 Screening. JAMA Oncology. 1(9), 1217-1218. https://jamanetwork.com/journals/jamaoncology/article-abstract/2432464.

Manchanda R, Sun L, Patel S, Evans O, Wilschut J, et al. (2020). Economic Evaluation of Population-Based BRCA1/BRCA2 Mutation Testing across Multiple Countries and Health Systems. Cancers. 12(1929). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7409094/pdf/cancers-12-01929.pdf.

Mayo Clinic. (2023). BRCA gene test for breast and ovarian cancer risk. Accessed February 21, 2024. https://www.mayoclinic.org/tests-procedures/brca-gene-test/about/pac-20384815.

National Cancer Institute. (2020). BRCA Gene Mutations: Cancer Risk and Genetic Testing. https://www.cancer.gov/about-cancer/causes-prevention/genetics/.

National Cancer Institute. (2021). Biomarker Testing for Cancer Treatment. https://www.cancer.gov/about-cancer/treatment/types/biomarker-testing-cancer-treatment.

SB 84. 2021 Regular Session. (La. 2021). https://www.legis.la.gov/legis/BillInfo.aspx?s=21rs&b=SB84&sbi=y.

SB 2201. 2022 Regular Session. (R.I. 2022). https://webserver.rilegislature.gov/BillText/BillText22/SenateText22/S2201A.pdf.

Sharma P, Klemp JR, Kimler BF, Mahnken JD, et al. (2014). Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for gereditary breast and/or ovarian caner syndrome testing. Breast Cancer Research and Treatment. 145(3), 707-714. https://link.springer.com/article/10.1007/s10549-014-2980-0.

US Preventive Services Task Force. (2019). Risk Assessment, Genetic Counseling, and Genetic testing for BRCA-Related Cancer. JAMA. 322(7), 652-665. https://jamanetwork.com/journals/jama/fullarticle/2748515.

Williams CD, Bullard AJ, O’Leary M, Thomas R, et al. (2019). Racial/Ethnic Disparities in BRCA Counseling and Testing: A Narrative Review. Journal of Racial and Ethnic Health Disparities. 6, 570-583. https://link.springer.com/article/10.1007/s40615-018-00556-7.