Genetic testing documentation in survivorship care plans in patients with breast cancer.
Authors: Kaur Kiranveer , Shinde Namrata Vilas , Klemanski Dori , Xu Menglin , Aeilts Amber , Lustberg Maryam B. , Jeter Joanne M. 
Published: June 2021

e24110

Background: Genetic testing results for germline mutations impact care of cancer survivors, thus are important to include in a survivorship care plan (SCP). In 2014, the Commission on Cancer adopted the American Society of Clinical Oncology’s SCP template and included a section on cancer genetic testing and results. However, data on its implementation is scant. We assessed documentation of genetic testing results in SCPs in various genetic test result groups and by primary oncology treatment team (PT) and consulting survivorship team (ST). Methods: We conducted a retrospective chart review of breast cancer patients who had a survivorship visit at our institution from February 2015 to January 2020, were seen by a genetic counselor (GC), and had genetic testing for germline mutations for hereditary predisposition to cancer (GGT). We compared the extent of documentation of GGT between the PT and ST’s SCPs, and among result categories (positive, negative, and variant of uncertain significance (VUS)) for occurrence of genetic testing, name of panel tested, GC recommendations, GC name/contact information, and name of gene involved and site of mutation (when applicable). Results: Among 398 women with breast cancer (DCIS 3%, Stage I 47%, Stage II 40%, Stage III 10%), median age was 49 years (range 27-77 years); 91% were non-Hispanic white, 4.7% black, 2.7% Asian, and 1% were Hispanic. GGT was documented in 93.7% of SCPs overall. GGT results were positive in 12.8%, negative in 65.8%, and VUS in 21.4%. The ST (75% SCPs) more often included GGT documentation in SCP as compared to PT (95.7% vs 87.9%, p = 0.006). There was no difference in GGT documentation by result category (positive 96.1%, negative 92.4%, VUS 96.5%, p = 0.3). GGT documentation was more detailed by ST as compared to PT, with name of panel tested included in 97% vs 92% of SCPs (p < 0.001). Of those with positive or VUS results, the name of the involved gene was included in 95% vs 77% (p = 0.003), and the site of mutation in 82% vs 48% (p < 0.001) of SCPs (ST vs PT). Only 56% of SCPs in the positive results group included all GC’s screening and follow up recommendations, while 84.7% in the VUS and 92% in the negative results group included them (p < 0.001). GC name/contact information were more often documented in ST’s SCPs (66% vs 8%; p < 0.001), with overall reporting being low in all result categories (positive 49%, negative 54%, VUS 48%). Conclusions: Overall, SCPs were likely to have documentation of GGT occurrence, name of tested panel and involved genes, but less frequently included the specific mutation identified, GC contact information, or GC recommendations for those with positive results. Documentation tended to be more complete for SCPs performed by ST rather than by PT. The causes of this discrepancy are unclear and may be related to different levels of comfort with and knowledge of GGT. Further study is needed to identify knowledge gaps and processes to improve documentation of GGT in SCPs.