In oncology, germline testing can help identify genetic mutations and variations that predispose a person to certain forms of cancer, helping save lives by improving prevention strategies and informing targeted treatments. For example, women with the BRCA1 cancer susceptibility gene have an increased risk of breast, ovarian, prostate, and pancreatic cancer, but, germline testing can reduce these risks through preventative surgeries and screenings.

Yet, despite advances in affordability and availability in genetic testing, global health disparities still limit germline testing in countries lacking medical experts to deliver adequate education and counseling services.

To address the disparities in access to germline testing, Dr. Gerneiva Parkinson, a clinical oncology fellow at Stanford, is building a digital health platform to magnify and coordinate resources for genetic testing. With a focus on the Caribbean region, which has a high prevalence of mutations associated with hereditary cancer, Parkinson’s pilot platform is the first of its kind to increase access to education, resources, and post-testing care.

This project builds on an earlier study that Parkinson conducted in Trinidad and Tobago, while in medical school, where she identified the prevalence of genetic mutations in high-risk breast cancer patients. Here she was able to build an infrastructure for genetic testing and counseling through a hybrid infrastructure of in-person and telephone meetings. This project will expand the program to other Caribbean countries and create and evaluate a digital platform as an alternative to 1:1 provider services.

“Our plan is to make it easily transposable for different countries in the Caribbean, as well as to other regions globally,” said Parkinson. “There is also a need for more digital infrastructure in the United States, as the demand for genetic testing has significantly increased throughout the country, with limited providers for in-person services. Therefore, this international tool can be utilized to help the local demand as well.”

Principal Investigators:

Gerneiva Parkinson, MD, MHS, Medical Oncology Fellow

Ami Bhatt, MD, PhD, Professor of Medicine and Genetics

Allison Kurian MD, MSc, Professor of Medicine and of Epidemiology and Population Health

James Dickerson, MD, MS, Assistant Professor of Medicine

Funders:

Stanford Center for Innovation in Global Health

Stanford Medicine’s Division of Oncology