Abstract P4-11-04: A Structured Genetic Risk Evaluation and Testing Program in the Community Oncology Practice Increases Identification of Individuals at Risk for BRCA Mutations
Authors: Langer L , Clark L , Gress J , Patt D , Denduluri N , Wang Y , Andersen J , Solti M , Wheeler A , Delamelena T , Smith JW , Sandbach J 
Published: August 2014

Background: Genetic risk assessment is an important component of the care of the community oncology breast cancer patient. However, identification of at-risk patients is largely an ad-hoc process and practices lack a systematic approach to genetic risk evaluation. The US Oncology Network Genetic Risk Evaluation and Testing (USON GREAT) Program provides a structured approach to implementation of genetic risk evaluation, testing, and triage for appropriate intervention.

Methods: In 2009, our multi-disciplinary community oncology practice implemented the USON GREAT Program. The practice's program has a single dedicated nurse practitioner and physician lead, trained in part through a core educational curriculum and utilizing US Oncology Network-wide genetics resources (web-based MD, midlevel, and genetic counselor conferencing; discussion Portal; published guidelines and office procedures). NCCN guidelines were used to guide testing recommendations. Sequential risk evaluations were documented prospectively. We retrospectively analyzed how evaluation patterns changed over a 4 year time period. We also sought to capture descriptive characteristics of the evaluated population.

Results: Overall, between 2008 and 2011, our practice evaluated 1018 patients at potential risk for a BRCA mutation (mut), based on personal history of breast cancer under age 50; ovarian, fallopian or peritoneal cancer; known family history of malignancy; or known BRCA mutation in the family.

In 2008, 6% of potential at-risk individuals were identified vs 35% in 2011. NCCN guideline exclusions for BRCA testing in invasive breast cancer were 8% in 2008 and 3% in 2010.

150 deleterious mut and variants of uncertain significance (VUS) were identified. There was an 14.7% overall identification rate for BRCA1/2 (B1, B2) mut and VUS. Among mut and VUS identified by cancer type, B1 mut was more commonly identified in patients with a gynecologic malignancy (53% B1 vs 30% B2, 17% VUS); mut in invasive breast cancer were more likely to be in B2 (42% B2 vs 32% B1, 26% VUS). 7% of all tests for individuals with malignancy were declined or cancelled due to insurance or finances, vs 37% for unaffecteds, despite their high risk of mutation carrier status.

Conclusions: We report a single practice's four-year experience with implementation of the USON GREAT Program. The results from this experience demonstrate that the USON GREAT Program results in higher rates of identification of at-risk individuals, and promotes more appropriate guidelines-based testing in the community oncology setting. The relative frequency of BRCA2 vs BRCA1 in invasive breast cancer is of unclear significance at this time and warrants further analysis. Cost of testing remains a barrier to appropriate utilization.

Citation Information: Cancer Res 2012;72(24 Suppl):Abstract nr P4-11-04.