Genetic Counseling

School of Health and Human Sciences

BeccaJohnsonAssessing BRCA1/2 Testing Practices in a Clinical Cancer Setting
Capstone Project Committee: Nancy Callanan, MS, CGC, Sat Gupta, PhD (Statistical Consultant), Kimberly Schlesinger, MD, Asheley Supik, MS, CGC
Background: Five to ten percent of breast cancer is found to be hereditary. Mutations in either BRCA1 or BRCA2 account for approximately half all hereditary breast cancers and 12-18% of ovarian cancer cases. The National Comprehensive Cancer Network (NCCN) has established guidelines for physicians and genetic counselors to aid them in deciding whether genetic counseling and testing for BRCA1/2 is appropriate. Purpose: The goal of this study was to evaluate BRCA1/2 testing practices in a clinical cancer setting and determine the impact of a genetic counselor on BRCA1/2 testing. Methods: This was a single-site, retrospective study that evaluated adherence to NCCN BRCA1/2 testing guidelines and whether adherence to these guidelines was impacted by the addition of a genetic counselor. This study utilized a cancer registry, electronic medical records and site-specific data sheets indicating patients who received BRCA1/2 testing. Results: Overall, the majority (83.1%) of individuals with breast cancer who were eligible for BRCA1/2 testing were offered testing while 58.5% of eligible individuals with ovarian cancer were not offered testing. Individuals with ovarian cancer were not offered testing significantly more than those with breast cancer. All individuals seen by a genetic counselor were offered testing in adherence with the NCCN criteria. Other providers adhered to NCCN criteria in offering testing to 58.7% of eligible individuals. Adherence to NCCN criteria by other providers varied with provider specialty. Discussion: This study demonstrates that there is a need for additional educational efforts to increase the adherence by non-genetic counselor providers to NCCN guidelines for BRCA1/2 testing for patients who qualify for testing based on their personal cancer diagnosis.
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