Hereditary breast and ovarian cancer: risk assessment in minority women and provider knowledge gaps

Abstract

Background The Georgia Breast Cancer Genomics Project identifed minority and underserved women at high risk for hereditary breast and ovarian cancer based on family history. Education, web-based screening, genetic counseling, and testing were provided in public health and primary care settings in accordance with evidence-based recommendations and guidelines. Objectives To assess risk of hereditary breast and ovarian cancer (HBOC) among minority and underserved women, provide genetic services according to evidence-based guidelines, and evaluate provider knowledge of HBOC. Methods The Georgia Department of Public Health established this project through a cooperative agreement with the Centers for Disease Control and Prevention. HBOC screening and genetic services were provided in 13 public health centers and federally qualifed health centers. Staff received training on genetics and risk assessment using the Breast Cancer Genetics Referral Screening Tool (B-RST). Providers and medical residents were surveyed on their knowledge of HBOC. Young women with breast cancer were surveyed on receipt of genetic services. Results More than 5,400 women were successfully screened; 79% identifed as racial/ethnic minorities. 5% of women screened positive on the B-RST, which is consistent with HBOC prevalence; 79% agreed to follow up. 23% met criteria for increased risk of BRCA 1/2 mutation and received genetic counseling and testing. Surveys revealed profound gaps in knowledge among physicians and medical residents and lack of delivery of evidence-based genetic services to survivors. Conclusions The genomics project demonstrated the effcacy of population-based screening to identify high-risk women before they receive a diagnosis of cancer. A high percentage of women who screened positive also completed genetic counseling and testing. Access to the benefts of HBOC management to prevent cancer and decrease mortality among minority and underserved women depends on improvements in knowledge of genetics and evidence-based practice by providers.

A Randomized Trial to Maximize Identification and Genetic Counseling Referral of Women at Risk for Hereditary Breast and Ovarian Cancer

“…While EHR messaging of the ordering clinician was found to be the most effective method of referral for both scheduling (30.0%) and uptake (17.2%) of genetic counseling, these rates remain less than ideal. However, our uptake rate was not dissimilar from that reported in previous studies 3% to 50% [17][18][19][20][21][22][23][24][25]. While overall uptake was low, only 8% of screen-positive participants had previously received genetic counseling, suggesting a substantial increase in the identification of at-risk individuals.…”

“…These studies vary by the method of identification and follow-up, setting (clinical, research, public health) and target population (affected or unaffected women). Identification of individuals at-risk for HBOC through various protocols has ranged from 2.7% to 13.9% and uptake of genetic counseling from 3% to 50% [17][18][19][20][21][22][23][24][25]. Application in a research setting, proband history of breast cancer, use of a patient navigator/direct contact, free access to genetic counseling and/or testing, and availability of telephone counseling have resulted in higher rates of uptake [16,21,22,25].…”

“…Identification of individuals at-risk for HBOC through various protocols has ranged from 2.7% to 13.9% and uptake of genetic counseling from 3% to 50% [17][18][19][20][21][22][23][24][25]. Application in a research setting, proband history of breast cancer, use of a patient navigator/direct contact, free access to genetic counseling and/or testing, and availability of telephone counseling have resulted in higher rates of uptake [16,21,22,25]. Few studies have focused specifically on prospective identification of unaffected women at risk for HBOC and genetic counseling outcomes in primary care settings in the United States.…”

“…Previous studies have used the original paper-based (B-)RST, or variations thereof to identify individuals for genetic counseling referral, classify individuals reporting at least one family member with cancer as high-risk and to validate alternate screening tools [22,30,31]. A second web-based version of the tool (B-RST™ 2.0) was used in public health clinics [25,28,32]. We recently revised and validated B-RST™ Version 3.0, which demonstrated a 94% sensitivity in identifying BRCA mutation carriers [29].…”

Blending Insights from Implementation Science and the Social Sciences to Mitigate Inequities in Screening for Hereditary Cancer Syndromes

“…Yet, to date, uptake of HBOC screening has been uneven, with most programs identifying individuals in specialty care settings or relying on tumor registries, domains in which well-educated whites and those who already have cancer are overrepresented [44,45]. Efforts to implement HBOC screening in primary-care, community-based settings have found that poor women and women of color are less likely to be screened than their white and wealthier peers [46,47,48,49].…”