Assistant Professor, Department of Medicine
Cancer Risk Evaluation Program
University of Pennsylvania School of Medicine
BRCA1/2 Genetic testing for breast cancer susceptibility can guide cancer risk management and improve patient survival. However, most individuals with a personal or family history of breast cancer do not have a BRCA1/2 mutation. Research has revealed that mutations in other genes, such as PalB2, CHEK2 and PTEN, are associated with elevated risks of breast cancer.
Yet, the clinical utility of these genes remains unknown. And, there is no data regarding patient experiences, and the risks, benefits and clinical utility of multiplex testing for breast cancer susceptibility. The clinical availability of multiplex testing without clear utility demonstrates the urgent need for multidisciplinary translational research that focuses on how to advance gene discoveries into clinical practice in a way that benefits the health and minimizes the risks for cancer patients. The overall goal of Dr. Bradbury’s research is to evaluate the risks and benefits of multiplex genetic testing for breast cancer susceptibility.
During the first half of the initial grant year in this three-year project, the laboratory running the assays on the 450+ research samples has continued with regular processing, and estimates they will complete running of thepreliminary assays by June 2014. Dr. Bradbury and her team will begin contacting patients to offer them the opportunity to receive their research results in March 2014. In the meantime the co-investigative team has been meeting regularly to discuss how to contact the patients who have provided samples, how to verify the assay results, what the assay report will look like, and the potential medical management implications associated with the results of the assays. While the samples are being readied a significant amount of time has been spent creating a novel counseling model appropriate for multiplex testing, as existing genetic counseling models for breast cancer susceptibility focus mainly on single syndrome counseling and are not adequate for multiplex testing. Through meetings and teleconferences with a variety of stakeholders, including multi-institutional genetic counselors, medical geneticists, and oncologists, a counseling model has been created for multiplex testing which addresses the informational, emotional, and knowledge -based needs of the patients who will be offered their multiplex test results while enrolled in this study. As part of the creation of the counseling model, visual aids have been created and standardized communication probes have been established. This model is currently being pilot tested with patients. These include patients who have previously had BRCA1/2 testing and have tested negative, similar to patients who will be contacted in the ACRA Study. The second group includes clinical patients presenting for initial BRCA1/2 testing, who now have the option to include multiplex panel testing at the time of their BRCA1/2 testing. To date, 27 patients have consented in this companion pilot study. This includes 18 patients who have previously completed BRCA1/2 testing, similar to the population for the ACRA Study. Dr. Bradbury’s team has met their minimum accrual goal for this subgroup (16-24 patients/subgroup). They expect results to return and be disclosed to patients in January-February 2014 and analyses and refinements to the genetic counseling protocols to be completed by March 1.
Dr. Angela Bradbury is an Assistant Professor in the Department of Medicine, Division of Hematology-Oncology at the University of Pennsylvania. She is a physician in the Cancer Risk Evaluation Program and also has a secondary appointment in the Department of Medical Ethics and Health Policy. Dr. Bradbury is a medical oncologist with specialized training in breast oncology, clinical cancer genetics and medical ethics. She has been developing and leading translational genetic research focused on the clinical implementation of genetic medicine to promote the health of individuals, families and communities since 2003. This includes studies evaluating delivery and dissemination of genetic services, communication of genetic information in clinical care and within families and the impact of early communication of genetic risk in adolescent girls. She is the recipient of an American Cancer Society Mentored Research Scholar Award and American Society of Clinical Oncology (ASCO) Young Investigator Award and more recently multiple National Institutes of Health grants evaluating early determinants of breast cancer risk and psychosocial adjustment in teen girls (R01 CA138819 Daly/Bradbury) and novel cancer genetic delivery models to facilitate dissemination and implementation of cancer genetics (R01 CA160847-01A1 /R21CA164121-02).