Health Care Disparities and Demand for Expanding Hereditary Breast Cancer Screening Guidelines in African Americans.
Adult
Black or African American
/ genetics
Breast Neoplasms
/ ethnology
Early Detection of Cancer
/ statistics & numerical data
Female
Genes, BRCA1
Genes, BRCA2
Genetic Counseling
Genetic Testing
/ statistics & numerical data
Healthcare Disparities
Humans
Middle Aged
Retrospective Studies
Risk Factors
United States
BRCA
Cancer screening
Genetics
Health care disparities
Hereditary breast cancer syndromes
Journal
Clinical breast cancer
ISSN: 1938-0666
Titre abrégé: Clin Breast Cancer
Pays: United States
ID NLM: 100898731
Informations de publication
Date de publication:
06 2021
06 2021
Historique:
received:
03
06
2020
revised:
06
08
2020
accepted:
29
08
2020
pubmed:
11
11
2020
medline:
15
12
2021
entrez:
10
11
2020
Statut:
ppublish
Résumé
Genomic medicine has led to significant advancements in the prevention and treatment of cancer. The National Comprehensive Cancer Network (NCCN) guidelines recommend BRCA1/2 screening in high-risk individuals; however, the guidelines have not incorporated differences within ethnic cohorts beyond Ashkenazi Jewish ethnicity. We analyzed the prevalence of BRCA1/2 mutations in various ethnicities and identified high-risk personal characteristics and family history incorporating differences within ethnic cohorts beyond Ashkenazi Jewish ethnicity. We reviewed data collected by a Michigan medical genetic clinic in a community-based hospital from 2008 to 2018. A retrospective chart analysis was conducted of 1090 patients who received genetic counseling regarding hereditary cancer syndromes. We found a statistically significant higher rate of pathogenic BRCA1/2 mutation prevalence in African American patients, at 8.1%, compared to non-Ashkenazi Jewish white patients, at 3.6% (P = .02). African Americans have a mutational prevalence nearing that of the Ashkenazi Jewish population. Revision of the NCCN guidelines regarding hereditary cancer syndrome testing in various ethnic groups is imperative and overdue. Future studies are needed to identify health care disparities in and socioeconomic barriers to genetic testing.
Sections du résumé
BACKGROUND
Genomic medicine has led to significant advancements in the prevention and treatment of cancer. The National Comprehensive Cancer Network (NCCN) guidelines recommend BRCA1/2 screening in high-risk individuals; however, the guidelines have not incorporated differences within ethnic cohorts beyond Ashkenazi Jewish ethnicity. We analyzed the prevalence of BRCA1/2 mutations in various ethnicities and identified high-risk personal characteristics and family history incorporating differences within ethnic cohorts beyond Ashkenazi Jewish ethnicity.
PATIENTS AND METHODS
We reviewed data collected by a Michigan medical genetic clinic in a community-based hospital from 2008 to 2018. A retrospective chart analysis was conducted of 1090 patients who received genetic counseling regarding hereditary cancer syndromes.
RESULTS
We found a statistically significant higher rate of pathogenic BRCA1/2 mutation prevalence in African American patients, at 8.1%, compared to non-Ashkenazi Jewish white patients, at 3.6% (P = .02). African Americans have a mutational prevalence nearing that of the Ashkenazi Jewish population.
CONCLUSION
Revision of the NCCN guidelines regarding hereditary cancer syndrome testing in various ethnic groups is imperative and overdue. Future studies are needed to identify health care disparities in and socioeconomic barriers to genetic testing.
Identifiants
pubmed: 33168447
pii: S1526-8209(20)30215-9
doi: 10.1016/j.clbc.2020.08.010
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e220-e227Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.