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Susan M. Domchek, MD
Basser Professor in Oncology
Executive Director of the Basser Center for BRCA
Director, MacDonald Cancer Risk Evaluation Center
Abramson Family Cancer Center, Perelman School of Medicine
University of Pennsylvania
Member, BCRF Scientific Advisory Board
Goal: To increase the use of genetic testing among those at the highest risk of developing breast cancer.
Impact: Dr. Domchek is conducting intervention studies aimed at improving genetic screening of individuals of Ashkenazi Jewish ancestry who may be unaware of their risk for breast cancer. Those who test positive for a BRCA mutation will then be eligible for increased cancer screening, preventive medications, or prophylactic surgeries. The research team hopes that these studies can be expanded for the greatest impact in high-risk populations.
What’s next: In the next year, Dr. Domchek will conduct automated searches in electronic medical record (EMR) to identify those at increased risk for inherited genetic predisposition to cancer and to compare two methods of outreach and referral to genetic testing.
Families that harbor mutations in the BRCA genes share a high risk of developing breast, ovarian, prostate, or pancreatic cancer. While BRCA mutations are rare in the general population, people of Ashkenazi Jewish descent have a 1 in 40 chance of inheriting a mutation in one of these genes. Despite this, many of these individuals do not undergo screening and may not even have a known family history of cancer. Dr. Domchek is testing education and genetic testing programs in these groups to improve access to and utilization of genetic screening.
Full Research Summary
Research area: Decreasing barriers to genetic testing and counseling among those at heightened risk of breast cancer and other cancers.
Impact: Men and women with a BRCA gene mutation have an increased risk of developing cancers including breast, ovarian, prostate, 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 doctors to estimate cancer risks, develop a screening and prevention plan, and use targeted therapies for cancers that develop. Despite this, many individuals who carry BRCA mutations have not undergone genetic testing. Dr. Domchek is testing genetic screening programs in high-risk groups that could improve testing rates and provide information about how the health care system can better use genetic information to optimize and personalize medical care.
Current investigation: Dr. Domchek and her colleagues will conduct automated searches in electronic medical record (EMR) to identify those at increased risk for inherited genetic predisposition to cancer and will compare two methods of outreach and referral to genetic testing.
What she’s accomplished so far: Dr. Domchek and her collaborators have launched two intervention studies aimed at helping providers and high-risk patients access genetic information and testing. One of her projects, the BRCA Founder Outreach (BFOR) Study, is testing a digital health platform among those of Ashkenazi Jewish ancestry, who have a 1 in 40 chance of having a BRCA mutation—much greater compared the general population. The second, the Point of Care (POC) study, is testing those with metastatic prostate cancer or pancreatic cancer, who sometimes carry BRCA mutations. Identifying those patients with BRCA mutations could have an important impact on family members, who may also have BRCA mutations but do not realize it. These initiatives provide significant advantages for patients by simplifying access to genetic information that can lead to identification of cancer-causing gene mutations in those with and without cancer.
What’s next: Dr. Domchek is expanding her work on decreasing barriers and increasing access to genetic testing. One method involves direct contact with patients through the EMR patient portal. The second method utilizes automated "nudges" to physicians in the EMR. To assess these methods, they will engage primary care colleagues, optimize the use of the EMR, and determine best motivator for patient testing (direct patient contact vs physician nudges), with the ultimate goal of reducing barriers and increasing access to genetic testing to those at greatest risk, while maintaining the testing within a medical model framework. Once feasibility is determined, they will further expand their studies and initiate a large, randomized study across institutions, expanding eligibility criteria and using additional platforms for testing.
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 National Academy of Medicine, the American Society of Clinical Investigation, and the Association of American Physicians, 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 350 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.
BCRF Investigator Since
The Hamptons Paddle & Party for Pink Award