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
Member, BCRF Scientific Advisory Board
Decreasing barriers to genetic testing and counseling among those at heightened risk of breast and other cancers.
Men and women with a BRCA gene mutation have an increased risk of developing cancers including ovarian, breast, 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 and several BCRF collaborators have tested delivery models to decrease the barriers to genetic testing in two large studies: the BRCA1/2 Founder Outreach (BFOR) Study that focuses on testing individuals of Ashkenazi ancestry, who have an increased risk of carrying a mutation that is approximately 10 times higher than the general population; and the “Point of Care” (POC) Study to test patients with metastatic cancers, to identify those at higher risk for breast, ovarian, prostate, and pancreatic cancer. Identifying cancer-causing gene mutations in patients with and without cancer can have immediate and significant impact on the patient and their families, with respect to prevention, early detection, and treatment. These studies demonstrated that the delivery models are effective in decreasing barriers to testing and increasing the impact of genetic testing for cancer susceptibility. Dr. Domchek is adjusting the parameters of these testing models to meet real-world demands and allow more individuals to gain timely access to their valuable genetic risk information while remaining embedded in medical care.
To date, the POC study has facilitated the genetic testing of 861 patients—this constitutes more than a 6-fold increase in testing at Dr. Domchek’s institution. In related work, Dr. Domchek’s genetics team (part of an interdisciplinary group at the University of Pennsylvania) has developed a genetic testing core within the electronic medical record (EMR) system called Precision Medicine Tab (PMT). This EMR enhancement integrates genetic test orders with commercial genetic testing companies to organize genetic information and help clinicians clearly identify those that need testing as well as their test results. Since its implementation, 9,223 genetic test results have been migrated over to the PMT making it much easier to find genetic test results in the EMR (or confirm whether genetic testing ever took place).
Dr. Domchek and her colleagues will continue their efforts to increase genetic testing so that, when needed, individuals can receive increased cancer screening, preventative medication, and potentially prophylactic surgeries. In the coming year, her team will fine-tune efforts toward provider education for primary care physicians so that patients at increased risk for familial cancers can be better identified. In addition, they will expand and further develop EMR reporting and identification tools. The results will enhance and update genetic testing for those with a personal and family history of breast and other cancers.
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.
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