Grant Application

Mylynda B. Massart, MD, PhD, Department of Family Medicine, Matilda Theiss Health Center

Proposed Innovation

Women who inherit genetic cancer-causing mutations (BRCA1 or BRCA2) are at a significantly higher risk of developing cancer, developing cancer at an earlier age, and developing more than one primary cancer. Early identification of risk factors enables patients to pursue proven interventions — bilateral mastectomy, total abdominal hysterectomy, and medications such as tamoxifen, raloxifine, or anastrozole — and recommended lifestyle changes, including weight loss and reduced alcohol consumption. Enhanced screening with earlier mammograms and breast MRI also increases the likelihood of early detection and more effective treatment.

Despite the importance of genetic cancer risk assessment (GCRA) in improving survival and quality of life, it has not been standardized and is underused in primary care. This project was designed to integrate a genetic risk assessment program into routine primary care preventative medicine.


Through this project, a patient-centered GRCA screening tool will be developed for use at all annual wellness or gynecological visits by patients and primary care providers. Team members will work with the UPMC IT department to integrate the data and assessment into EPIC, the electronic health record system, to develop a personalized screening and management plan.

Initially piloted with Dr. Massart’s patients in the Matilda Theiss Health Clinic, the project was later expanded to include all women seen at the Clinic for annual wellness visits. Those identified as high risk by their GCRA were offered genetic counseling, the opportunity for genetic testing, and an individual action plan.


Information was gathered and analyzed regarding the percentage of patients who returned for counseling, those who met criteria for testing and followed up with genetic testing, and those who criteria for alternative screening. Patients also were surveyed to identify perceptions and barriers to utilizing the GCRA, genetic counseling, genetic testing, and risk reduction methods in the primary care setting. That information is now being used to mitigate barriers to the screening process and address health disparities in each community. Findings from this project were presented at the American Society of Human Genetics meeting in Fall 2017.

The project team now hopes to standardize the tool so it can be used in other clinical settings. Having access to a simple, evidence-based tool that is easily understood and implemented by primary care providers at annual wellness exams is expected to improve the quality of shared decision making between patients and their doctors. It also is expected to lead to increases use of genetic cancer screening assessment and genetic counseling, improved use of interventions, and an improved quality of life and survival rate for women with a high genetic cancer risk.