Jeffrey Weitzel, MD

Expanding access to genetic screening and breast cancer prevention in Latin America.

Impact

Breast cancer risk reduction includes genetic cancer risk assessment. However, accessing genetic counseling, detecting high-risk individuals, and offering treatment requires an infrastructure that supports public access to both genetic testing and risk reduction surgery. Access to these services is limited in Latin America. The goal of Dr. Weitzel’s Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) project is to address disparities and characterize the genetic risk for breast cancer in Latin America through dissemination and implementation of genetic cancer risk assessment, ultimately enabling critical and timely breast cancer interception and prevention interventions for patients and their families.

Progress Thus Far

Dr. Weitzel is implementing genetic cancer risk assessment at pilot sites in Latin America as well as new sites in the region. He and his team have made insights into how Hispanic women in the United States and Latin America are choosing preventive surgeries to reduce their risk of breast and ovarian cancer after receiving genetic counseling and testing. They found that women who carried a breast cancer susceptibility gene mutation, had a personal or family history of cancer, or were younger were more likely to choose risk-reducing surgeries (RRS), such as mastectomy or removal of the ovaries and fallopian tubes. However, women living outside the U.S. were less likely to undergo RRS. Understanding personal and systemic factors influencing uptake may enable interventions to increase risk appropriate uptake of RRS. The team has found that having genetic testing and counseling available help women make informed, risk-appropriate decisions about prevention. Encouragingly, the team has also found evidence that, despite limited resources, patients at affiliated Latin American clinics can access risk-reduction surgery at rates comparable to those seen among Hispanic and non-Hispanic patients at safety-net hospitals in the U.S.

Dr. Weitzel and his team implemented a Spanish-language video counseling tool and received over 300 samples from two collaborating sites in Mexico, providing approximately 264 multi-gene panel testing reports. Of these, 25 patients (9.5%) were found to carry a pathogenic variant in BRCA1 or BRCA2, and the team identified pathogenic variants in multiple other breast cancer predisposition genes as well.

What’s next

Dr. Weitzel and his team will onboard a new collaborating site in Mexico, including a site visit to support partnership development and implementation. The team will also sponsor a visit from an expert in dissemination and implementation science who will speak on implementation strategies and meet with key collaborators. Work will continue to shorten sample processing and genetic testing turnaround times. Finally, the team will further expand its collaboration with JUNTOS, a cancer-center-led regional Hispanic outreach program, to better understand local healthcare systems for underserved Hispanic communities, including pilot studies of multilingual counseling videos and smartphone-based digital family history tools.