Racial/Ethnic Disparities in BRCA Counseling and Testing: a Narrative Review

Williams, Christina D.; Bullard, A. Jasmine; OʼLeary, Meghan C.; Thomas, R. J. S.; Redding, Thomas S.; Goldstein, Kenneth M.

doi:10.1007/s40615-018-00556-7

Cited by 62 publications

(56 citation statements)

References 42 publications

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“…For example, in recent work in the same populations, we showed that individuals with AJ founder variants in BRCA1 and BRCA2 genes were twice as likely to have undergone clinical genetic testing compared with other groups with founder variants in these genes, despite similar rates of cancer . A lack of patient and/or provider awareness about population-specific risks may impact rates of genetic testing (Williams et al, 2019). For common diseases, which are largely influenced by non-genetic factors, but nevertheless may also have a substantial genetic component, this is particularly true.…”

Section: Discussionmentioning

confidence: 99%

Toward a fine-scale population health monitoring system

Belbin¹,

Cullina

Wenric

et al. 2021

Cell

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Section: Discussionmentioning

confidence: 99%

Toward a fine-scale population health monitoring system

Belbin¹,

Cullina

Wenric

et al. 2021

Cell

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Section: Discussionmentioning

confidence: 99%

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank

et al. 2019

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BackgroundPathogenic variants in BRCA1 and BRCA2 (BRCA1/2) lead to increased risk of breast, ovarian, and other cancers, but most variant-positive individuals in the general population are unaware of their risk, and little is known about prevalence in non-European populations. We investigated BRCA1/2 prevalence and impact in the electronic health record (EHR)-linked BioMe Biobank in New York City.MethodsExome sequence data from 30,223 adult BioMe participants were evaluated for pathogenic variants in BRCA1/2. Prevalence estimates were made in population groups defined by genetic ancestry and self-report. EHR data were used to evaluate clinical characteristics of variant-positive individuals.ResultsThere were 218 (0.7%) individuals harboring expected pathogenic variants, resulting in an overall prevalence of 1 in 139. The highest prevalence was in individuals with Ashkenazi Jewish (AJ; 1 in 49), Filipino and other Southeast Asian (1 in 81), and non-AJ European (1 in 103) ancestry. Among 218 variant-positive individuals, 112 (51.4%) harbored known founder variants: 80 had AJ founder variants (BRCA1 c.5266dupC and c.68_69delAG, and BRCA2 c.5946delT), 8 had a Puerto Rican founder variant (BRCA2 c.3922G>T), and 24 had one of 19 other founder variants. Non-European populations were more likely to harbor BRCA1/2 variants that were not classified in ClinVar or that had uncertain or conflicting evidence for pathogenicity (uncertain/conflicting). Within mixed ancestry populations, such as Hispanic/Latinos with genetic ancestry from Africa, Europe, and the Americas, there was a strong correlation between the proportion of African genetic ancestry and the likelihood of harboring an uncertain/conflicting variant. Approximately 28% of variant-positive individuals had a personal history, and 45% had a personal or family history of BRCA1/2-associated cancers. Approximately 27% of variant-positive individuals had prior clinical genetic testing for BRCA1/2. However, individuals with AJ founder variants were twice as likely to have had a clinical test (39%) than those with other pathogenic variants (20%).ConclusionsThese findings deepen our knowledge about BRCA1/2 variants and associated cancer risk in diverse populations, indicate a gap in knowledge about potential cancer-related variants in non-European populations, and suggest that genomic screening in diverse patient populations may be an effective tool to identify at-risk individuals.

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“…Obstacles in non-AJ populations could include lack of patient awareness about BRCA1/2, lower suspicion for HBOC by healthcare providers, or reduced access and/or uptake of genetic testing in certain populations within the context of broader healthcare disparities. Such barriers have been described in African American and Hispanic/Latino populations, the two largest non-European populations in BioMe, suggesting that interventions to improve awareness, risk-perception, and patient-provider communication are needed to reduce disparities in BRCA1/2 testing in diverse populations (37). Current evidence-and expert opinion-driven guidelines (10,11,38) as well as statistical models (39)(40)(41)(42) to identify potential candidates for BRCA1/2 testing are mainly based on the number of individuals with relevant cancers in a kindred, age(s) of diagnosis, and ancestry.…”

Section: Discussionmentioning

confidence: 99%

Exome Sequencing Reveals a High Prevalence ofBRCA1andBRCA2Founder Variants in a Diverse Population-Based Biobank

Abul‐Husn

Soper

Odgis

et al. 2019

Preprint

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Word Count: 340 Manuscript Word Count: 4214Abstract Pathogenic variants in BRCA1 and BRCA2 (BRCA1/2) lead to increased risk of breast, ovarian, and other cancers, but most variant positive individuals in the general population are unaware of their risk, and little is known about the prevalence of pathogenic BRCA1/2 variants in non-European populations.We investigated BRCA1/2 prevalence and impact using exome sequencing and electronic health record (EHR) data from 30,223 adult participants of the BioMe Biobank in New York City. There were 218 (0.7%) individuals harboring expected pathogenic variants, resulting in an overall prevalence of 1 in 139. In subpopulations defined by genetic ancestry, the highest prevalence was in individuals of Ashkenazi Jewish (AJ; 1 in 49), Filipino and Southeast Asian (1 in 81), and Non-AJ European (1 in 103) descent. Among 218 variant positive individuals, 112 (51.4%) harbored known founder variants: 80 had AJ founder variants (BRCA1 c.5266dupC and c.68_69delAG, and BRCA2 c.5946delT), 7 had a Puerto Rican founder variant (BRCA2 c.3922G>T), and 25 had one of 19 other founder variants. Non-European populations were more likely to harbor BRCA1/2 variants that were not classified in ClinVar, or that had uncertain or conflicting evidence for pathogenicity. Within mixed ancestry populations, such as Hispanic/Latinos with genetic ancestry from Africa, Europe, and the Americas, there was a strong correlation between the proportion African genetic ancestry and the likelihood of harboring a BRCA1/2 variant with uncertain or conflicting evidence for pathogenicity. Based on EHR and participant questionnaire data, ~28% of variant positive individuals had a personal history, and ~45% a personal or family history of BRCA1/2-associated cancers.Approximately 27% of variant positive individuals had evidence of prior clinical genetic testing for BRCA1/2. However, individuals with AJ founder variants were twice as likely to have had a clinical test (38%) than those with other pathogenic variants (19%). These findings deepen our knowledge about BRCA1/2 variants and associated cancer risk in diverse populations, indicate a gap in knowledge about potential cancer-related variants in non-European populations, and suggest that genomic screening in diverse patient populations may be an effective tool to identify at-risk individuals.

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Racial/Ethnic Disparities in BRCA Counseling and Testing: a Narrative Review

Cited by 62 publications

References 42 publications

Toward a fine-scale population health monitoring system

Toward a fine-scale population health monitoring system

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank

Exome Sequencing Reveals a High Prevalence ofBRCA1andBRCA2Founder Variants in a Diverse Population-Based Biobank

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