Disclosure of familial implications of pathogenic variants in breast-cancer genes to patients: Opportunity for prompting family communication

Sukh Makhnoon, Hadley S. Smith, Erica M. Bednar, Arjun Bhatt, Llaran Turner, Banu Arun, Robert J. Volk, Susan K. Peterson

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)439-447
Number of pages9
JournalJournal of Community Genetics
Issue number3
StatePublished - Jul 2021
Externally publishedYes


  • Breast cancer
  • Family communication
  • Genetic counseling
  • Pathogenic variants
  • Summary notes

ASJC Scopus subject areas

  • Epidemiology
  • Public Health, Environmental and Occupational Health
  • Genetics(clinical)


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