Our continued interview with BCRF Researcher Dr. Jeffrey Weitzel

BCRF grantee Dr. Jeffrey Weitzel continues his Q&A regarding the role of genetics and breast cancer risk in Latinas. Be sure to read part one for the complete interview.

BCRF: What are some of the barriers to genetic screening in Latina populations and how is your research addressing these needs?

JW: There are two major barriers in Mexico, Peru and Colombia: not enough trained genetic practitioners and lack of resources. While mammography is a covered benefit in Mexico, there are such limited resources for screening, that if all the women who are eligible to get mammograms did, the system would be overwhelmed. Genetic testing creates an even bigger burden. Consequently, while genetic testing has been commercially available in the US for nearly two decades, it is still not widely available in Mexico or other low and middle income countries.

Our BCRF support is helping us to provide both training and resources to clinics in Peru, Colombia and Mexico. We're teaching the doctors in these countries how to do genetic medicine with on-site training at the City of Hope and in Latin America, with ongoing access to multidisciplinary genetic tumor boards to enable continuous quality improvement and ensure they acquire the skills necessary to do genetic cancer risk assessment well. They continue to enroll patients in our ongoing prospective registry studies. We provide them with an inexpensive assay, which we call HISPANEL, and once the patients are counseled on genetic risk, the doctors administer the genetic screen, at a cost of about $25 per patient. That pre-screen allows patients to make preventive decisions based on family history and genetic screening. We are using next generation technologies to provide complete sequencing for HISPANEL-negative cases that meet National Comprehensive Cancer Network criteria.

We're creating a protocol that can be transferred to our Latin American partners on a screening platform that will be affordable for them locally, and ultimately suitable for other low resource settings. We also work with the advocates to help them understand the importance of genetic screening in directing the limited resources to those at most risk.

BCRF: In another recent article, a group from USCF identified a genetic variant common in Latina women that seemed to be protective against breast cancer. Can you comment on these finding and the impact they may have on screening recommendations?

JW: The study found a single nucleotide change in the DNA, called a SNP, in a Hispanic population. The people who had this particular SNP, which the authors believe could be traced back to an indigenous population, were protected from breast cancer. We are now working with the UCSF group to study the same SNP in Latina BRCA mutation carriers to see if it modifies the risk of breast cancer in a high risk population. The challenge is determining whether that one SNP is protective enough to be able to tell someone they don't need screening. Once we learn more about how the gene where the SNP occurs influences risk the better we can apply that information to risk assessment and prevention.

BCRF: What do you see as the priorities in ending breast cancer disparities in Latina populations around the world?

JW: There have always been health disparities in the Latina community, but in my mind the genetic disparities have lasted longer than many. It's a multi-level problem that requires a multi-level solution. We need training for the clinical workforce to assimilate the new technologies in genomic sequencing; we need genetic testing that is both pragmatic and economical and accessible to the general population, not just to patients who can afford it. Leveraging the genomic technologies and allowing them to be used responsibly by trained clinicians will help us to direct limited resources to those with highest risk. For women with high risk mutations, a salpingo oophorectomy (surgical removal of fallopian tubes and ovaries) is the most effective preventive surgery and costs a fraction of mastectomy and reconstruction. Studies have shown that salpingo oophorectomy is not only cost-effective preventive strategy, but that it actually saves money per year of life saved, meaning that we can't afford NOT to do this.

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