Abstract P6-08-23: Disclosure of familial implications of pathogenic BRCA1/2 to probands: Opportunity for prompting family communication
Authors: Makhnoon Sukh , Arun Banu , Volk Robert J , Peterson Susan K 
Published: March 2020

Familial communication of pathogenic BRCA1/2 results is necessary to maximize the clinical utility of genomic sequencing and its public health benefits. Cascade BRCA1/2 genetic testing is suboptimal and practical strategies for promoting familial testing are needed. Disclosure of BRCA1/2 results present opportunities to counsel probands about familial communication. Little is known about what familial communication recommendations are offered to probands by genetic counselors (GCs). We examined differences in how GCs discussed familial implications of pathogenic BRCA1/2 results based on: specificity of familial risk-messaging; offer of logistical help for relatives; and, provision of family letters. We completed structured content analysis of 343 BRCA1/2 result disclosure notes abstracted from electronic medical records (EMRs), for probands seen at MD Anderson Cancer Center from 2014-2019. Probands were 90.7% female, median age of 49 years, 44.3% non-White, and were counseled by 22 unique GCs with mean post-graduate experience of 4.2 years. 51.0% of notes described specific at-risk relatives who would benefit from genetic counseling; the remainder described familial implications more generically. The practice of including specific information differed widely among individual GCs. 29.1% provided information on logistical genetic counseling assistance for relatives (e.g., targeted testing cost, assistance locating GCs or testing services for underinsured). In particular, assistance locating GCs internationally through institutional databases or through GCs’ professional networks were particularly appreciated by patients. More experienced GCs were more likely to provide detailed familial implication information (p=&lt;0.001) and offer logistical help (p=0.002). Presence of an accompanying relative to an in-person appointment (n=78) did not change the specificity of familial implications offered, compared to unaccompanied (n=95) or telephone disclosures (n=165) (p=0.78). The provision of family letters was mentioned in 47.2% of notes, but the intended recipient or purpose were frequently not specified. When specified, some GCs actively encouraged patients to distribute family letters to relatives while others only mentioned that letters would be mailed to patients. 58 of 343 patients had one or more accompanying VUS in addition to pathogenic BRCA1/2 mutation. In 67% of VUS cases, VUS implications were discussed in detail, including non-indication for familial testing. Some notes indicated familial communication primarily as a means to determine paternal/maternal inheritance of mutation with little to no emphasis on the benefits of cascade testing. While determining inheritance patterns of BRCA1/2 is important for targeted testing of at-risk relatives, counseling can be framed as altruistic opportunities to benefit relatives through cascade genetic testing which may be a more persuasive strategy to promote familial communication. Pathogenic BRCA1/2 disclosure appointments were noted as overwhelming experiences for some patients. In such cases, GCs may prioritize information that impacts patients’ immediate care over familial information to reduce information overload. Although there may be discordance between EMR disclosure notes and actual counseling, findings suggest that offering specific risk-messaging, logistical help and explaining intended recipients of family letters are opportunities for improving familial communication. The heterogeneity in disclosure notes between GCs may reflect their differing philosophies of the utility of writing detailed versus specific notes. Additional investigation of GC perspectives and motivations for writing disclosure notes of varying styles and its impact on familial communication is warranted.

Citation Format: Sukh Makhnoon, Banu Arun, Robert J Volk, Susan K Peterson. Disclosure of familial implications of pathogenic BRCA1/2 to probands: Opportunity for prompting family communication [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr P6-08-23.