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Susan M. Domchek, MD
Professor of Medicine
Basser Professor in Oncology
Executive Director of the Basser Center for BRCA
Abramson Family Cancer Center
Perelman School of Medicine
University of Pennsylvania
Member, BCRF Scientific Advisory Board
- Seeking to optimize prevention and risk reduction strategies in BRCA1/2 mutation carriers.
- Testing an education and genetic testing program in individuals of Ashkenazi Jewish ancestry to increase access to and utilization of genetic screening.
- If successful, this program will inform how our health care system can implement routine genetic screening and optimize personalized medical care.
The BRCA breast cancer susceptibility genes (BRCA1/BRCA2) are the most common genes implicated in inherited risk of breast cancer. While rare in the general population, individuals of Ashkenazi Jewish descent have 1 in 40 chance of inheriting a mutation in one of the BRCA genes. In spite of this, many Ashkenazi women and men do not get BRCA testing. Dr. Domchek and colleagues are conducting an intervention study to increase BRCA testing and genetic counseling in this high-risk population.
Full Research Summary
Men and women with a BRCA1 or BRCA2 gene mutation have an increased risk of developing cancers including ovarian cancer, female and male breast cancer, prostate cancer, and pancreatic cancer. Genetic testing for BRCA1 and BRCA2 mutations has served as a model for how to use inherited genetic information to guide clinical care: the presence of a BRCA mutation allows estimation of cancer risks, development of a screening and prevention plan, and use of targeted therapies when cancer develops.
Despite this, many individuals who carry a BRCA mutation have not undergone genetic testing and do not know their individual or familial risk. The challenge to widespread genetic testing remains: how to implement routine screening at the point of service in which individuals have appropriate pre-test education and input from their physicians.
Dr. Domchek and colleagues are launching a large collaborative project called the BRCA Founder Outreach (BFOR) Study that will test a digital health platform to help providers and patients access genetic information and genetic testing. A pilot phase of the study will enroll 4,000 individuals of Ashkenazi Jewish ancestry within the New York City, Boston, Philadelphia, and Los Angeles metropolitan areas.
The project aims to demonstrate that a standardized program of pre-test education and genetic testing delivered through a digital health platform will increase BRCA testing in this high-risk population, who have a 10-fold higher chance of having one of three specific BRCA1/2 mutations (called founder mutations) than others in the United States. If successful, these efforts will provide information about how the health care system can better use genetic information to optimize and personalize medical care.
To date, 1,669 individuals have been enrolled across the participating sites: 333 in Boston, 612 in Los Angeles, 393 in New York, and 331 in Philadelphia.
Results from the BFOR study will provide critical data needed to validate the existence of BRCA mutations within the Ashkenazi Jewish population, measure psychosocial impact of harboring a BRCA mutation, identify barriers and facilitators in disclosing test results within a primary care setting, document outcome of interventions, and allow for testing of a digital health solution that could be extended and scaled.
Susan M. Domchek, MD is the Basser Professor in Oncology at the Perelman School of Medicine of the University of Pennsylvania. She serves as Executive Director of the Basser Center for BRCA at the Abramson Cancer Center and Director of the Mariann and Robert MacDonald Cancer Risk Evaluation Program.
Her work focuses on the genetic evaluation and medical management of individuals with inherited risk factors for cancer. Dr. Domchek is particularly interested in developing new cancer therapies, such as PARP inhibitors, for breast cancer due to genetic risk factors.
An elected member of the American Society of Clinical Investigation, Dr. Domchek is also a member of the American Society of Clinical Oncology for which she had served on a number of committees. A significant contributor to the oncology literature, she has authored/co-authored more than 250 articles appearing in scholarly journals including the New England Journal of Medicine, the Journal of the American Medical Association and the Journal of Clinical Oncology. Dr. Domchek also serves on a number of editorial review boards, including the Journal of Clinical Oncology, as well as on the Scientific Advisory Board for the Breast Cancer Research Foundation.