Abstract
Familial communication of pathogenic genetic variants is necessary to maximize the clinical utility of genetic testing and its public health benefits. Insights to family communication considerations may be obtained from existing clinical documentation available in medical records. The goal of this study was to describe and characterize information about family communication of pathogenic variants and cascade genetic testing from genetic counseling summary notes. We completed structured content analysis of 656 summary notes describing pathogenic variants in breast cancer genes, for patients seen at a tertiary cancer center. Patients were 89.5% female, median age of 49 years, 32.6% non-White, and were counseled by 23 unique genetic counselors (GCs) with mean post-certification experience of 3.7 years. Cascade genetic testing was documented in 92.2% of all notes. Specific relatives (i.e., relationship to patient) who would benefit from genetic counseling and cascade testing were referenced in 33.1% of notes. Specific risk messaging was 2.5 times more likely to be present in notes of high- compared to moderate-risk genes (OR=2.53, 95% CI: 1.71-3.80), and when summary notes indicated the presence of a friend or relative (OR=2.29, 95% CI: 1.50-3.48). Summary notes frequently attempted to contextualize the patients’ familial relationships by referencing positive family communication patterns (41.6%) or negative communication issues (2.4%) and included various strategies to address barriers to communication and assist relatives with cascade testing. Overall, GCs consistently documented family communication recommendations when pathogenic variants are identified on patients’ genetic testing, albeit with heterogeneous use of specific communication prompts.
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Data Availability
Data is available from the corresponding author upon reasonable request.
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Funding
SM’s work is supported by a research training grant award from the Cancer Prevention and Research Institute of Texas – CPRIT (Award# RP170259). Erica M. Bednar’s work is supported by philanthropic contributions to The University of Texas MD Anderson Cancer Center Moon Shots Program, Cancer Prevention & Control Platform. This project was supported in part by a grant from NIH/NCI under award number P30CA016672 and used the Shared Decision Making Core.
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Concept and design: SM, HSS, SKP
Acquisition, analysis, or interpretation of data: SM, AB, LT
Drafting of the manuscript: All authors
Critical revision of the manuscript for important intellectual content: SM, EMB, HSS, RJV, SKP
Statistical analysis: SM
Administrative, technical, or material support: SM, BA, SKP
Supervision: RJV, BA, SKP
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The study was approved by the ethics committee of UT MD Anderson Cancer Center. This research study was conducted retrospectively from data obtained for clinical purposes.
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Makhnoon, S., Smith, H.S., Bednar, E.M. et al. Disclosure of familial implications of pathogenic variants in breast-cancer genes to patients: Opportunity for prompting family communication. J Community Genet 12, 439–447 (2021). https://doi.org/10.1007/s12687-021-00504-9
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DOI: https://doi.org/10.1007/s12687-021-00504-9