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. The goal of this project is to integrate a genetic risk assessment program into routine primary care preventative medicine.


Improvements in Action

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.

In addition, women seen at Matilda Theiss Health Center for annual wellness visits who are deemed at high risk by their GCRA will be offered genetic counseling regarding their increased risk and the opportunity for genetic testing. Using individual GCRA results, an action plan will be developed for each patient. Information will be gathered to determine the percentage of patients who return for counseling, the percentage of those counseled who met criteria for testing and followed up with genetic testing, and the percentage of those who met criteria for alternative screening. Patients also will be 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 will be used to mitigate both cultural and physical barriers to the screening process.


Results – In Progress

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 increased use of genetic cancer screening assessment and genetic counseling, improved use of interventions, and an improved quality of life and survival rate for women identified as having a high genetic cancer risk.