Uptake of genetic testing for germline BRCA1/2 pathogenic variants in a predominantly Hispanic population

Abstract

Background-Genetic counseling is under-utilized in women who meet family history criteria for BRCA1 and BRCA2 (BRCA1/2) testing, particularly among racial/ethnic minorities. We evaluated the uptake of BRCA1/2 genetic testing among women presenting for screening mammography in a predominantly Hispanic, low-income population of Washington Heights in New York City. Methods-We administered the Six-Point Scale (SPS) to women presenting for screening mammography at Columbia University Irving Medical Center (CUIMC) in the Washington Heights neighborhood of New York, NY. The SPS is a family history screener to determine eligibility for BRCA1/2 genetic testing based upon U.S. Preventive Services Task Force (USPSTF) guidelines that has been validated in low-income, multiethnic populations. Results-Among women who underwent screening mammography at CUIMC between November 2014 and June 2016, 3,055 completed the SPS family history screener. Participants were predominantly Hispanic (76.7%), and 12% met family history criteria for BRCA1/2 testing, of whom <5% had previously undergone testing. Conclusions-In a multiethnic population, a significant proportion met family history criteria for BRCA1/2 testing, but uptake of genetic testing was low. Such underutilization of BRCA1/2 genetic testing among minorities further underscores the need to develop programs to engage highrisk women from underrepresented populations in genetic testing services.

Anxiety and depression among racial/ethnic minorities and impoverished women testing positive for BRCA1/2 mutations in the United States

“…A conducive study of 369 Hispanic women eligible for testing due to family history of breast/ovarian cancers, only 4.6% had reported being referred to prior BRCA1/2 testing [46]. Past literature has highlighted ethnic differences regarding the pathological characteristics of BRCA1/2-associated breast cancers [47], physician-patient communication during and after genetic testing [48], and epidemiological trends among Hispanic women in BRCA1/2 testing [49], showing that this group has a more di cult time nding and communicating care [41].…”

Medicaid Expansions: Probing Medicaid’s Filling of the Cancer Genetic Testing and Screening Space

“…In 2014, with the start of traditional Medicaid expansion, New York State issued criteria for coverage of BRCA testing in Medicaid recipients [ 52 ]. Despite the revision, a study of 3055 predominantly low-income Latina women who had undergone screening mammography between 2014 and 2016 at a Columbia University medical center in Washington Heights, New York City revealed persistent underutilization [ 53 ]. Twelve percent of the women met family history criteria for BRCA1/2 testing, yet <5% had previously undergone testing.…”

Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists

“…30,31 Another study demonstrated that while 12% of women from a predominantly Hispanic population met criteria for BRCA1/2 testing, less than 5% reported receiving this testing. 32 This suggests additional barriers exist and that there is a need to further evaluate systematic and patient barriers beyond physician education. System-related barriers may include access to resources, trained staff, up-to-date materials, costs for community-based genetic testing, and timely communication from referrals.…”