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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
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 this pilot study can be expanded for the greatest impact in high-risk populations.
What’s next: In the next year, Dr. Domchek will continue to enroll two studies to increase genetic screening of individuals with a high risk of carrying a BRCA mutation. In one study she is enrolling men with metastatic prostate or pancreatic cancer to identify those with BRCA mutations so that healthy family members can also be screened. In a second study, she is enrolling healthy men and women of Ashkenazi Jewish descent to partake in a digital health platform to increase awareness and acceptance of genetic screening.
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. In spite of 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: Individuals with BRCA1 or BRCA2 gene mutations have an increased risk of developing cancers including ovarian cancer, female and male breast cancer, prostate cancer, and pancreatic cancer. Unfortunately, many people with these mutations have not undergone genetic testing and don’t know their individual risk or the risk posed to members of their family. 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: She 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 don’t realize it.
What she’s accomplished so far: Dr. Domchek has provided access to genetic testing to nearly 1,000 individuals through these studies. Preliminary evidence from both studies indicate that the interventions increase access and are acceptable means of providing service to both patients and providers.
What’s next: She and her colleagues will continue working with community organizations and the health system to promote their studies and develop a sustainability plan to expand the project.
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.
BCRF Investigator Since
The Hamptons Paddle & Party for Pink Award