Decision Support for BRCA Testing in Ethnically Diverse Women

Hereditary breast and ovarian cancer syndrome (HBOC) is an inherited condition that is most
commonly associated with mutations in the BRCA1 and BRCA2 genes. Mutation carriers have
lifetime risks of breast and ovarian cancer of 60-80% and 20-40%, respectively. Risk
management options include intensive breast cancer screening, risk-reducing surgeries, and
chemoprevention, which have been shown to improve early detection and reduce cancer incidence
and mortality. In particular, prophylactic bilateral salpingo-oophorectomy has been
associated with a 60-77%reduction in all-cause mortality among BRCA mutation carriers. Based
upon U.S. Preventive Services Task Force guidelines, an estimated 5%-10% of women unaffected
with breast cancer are eligible for genetic testing for HBOC, but only 14% of those eligible
were referred and 4% had BRCA genetic testing. Many women may be unaware of their high-risk
status due to our inability to adequately screen them in the primary care setting. Other
reasons for low uptake include inadequate time for counseling and insufficient knowledge
about risk-reducing strategies. Women from racial/ethnic minorities are less likely to seek
genetic testing for HBOC, contributing to poorer clinical outcomes in these populations
compared to non-Hispanic whites. Alternatively, decreasing inappropriate genetics referrals
is also important for reducing anxiety and allowing genetic services to be used more
efficiently. More research is needed to develop optimal strategies for engaging high-risk
women in informed decision-making about genetic testing for HBOC.

The objective of this study is to expand genetic testing for hereditary breast and ovarian
cancer syndrome to a broader population of high-risk women by prompting appropriate referrals
from the primary care setting with the use of an electronic health record-embedded breast
cancer risk navigation (BNAV) tool. To address patient-related barriers to genetic testing,
we developed a web-based decision aid, RealRisks, which is designed to improve genetic
testing knowledge, accuracy of breast cancer risk perceptions, and self-efficacy to engage in
a collaborative dialogue about genetic testing.

The study design is a randomized controlled trial of patient educational materials and
provider EHR notice alone (control arm) or in combination with RealRisks and BNAV
(intervention arm). The researchers hypothesize that combining the patient-centered RealRisks
with the provider-centered BNAV will increase appropriate uptake of genetic counseling. The
researchers also hypothesize that genetic counseling decisions will be more informed, and
result in less decision conflict and improved shared decision making.

Inclusion Criteria (Patient Participants):

- Women, age 21-75 years

- Meets criteria for genetic testing based on family history

- Sees a primary care provider in the Columbia University/New York Presbyterian Hospital
Ambulatory Care Network

- Understands as is willing to provide informed consent in English or in Spanish

Exclusion Criteria (Patient Participants):

- Prior genetic counseling or testing for hereditary breast and ovarian cancer (HBOC)

- A personal history of breast or ovarian cancer

Inclusion Criteria (Health Care Provider Participants):

- Primary care providers, such as attending physicians, residents, nurse practitioners,
physician assistants, and midwives, who see patients at CUMC/NYP Ambulatory Care
Network clinics

- Able to provide informed consent