From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals

Bianca M. Augusto, Paige Lake, Courtney L. Scherr, Fergus J. Couch, Noralane M. Lindor, Susan T. Vadaparampil*

*Corresponding author for this work

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Despite ongoing research efforts to reclassify BRCA variant of uncertain significance (VUS), results for strategies to disseminate findings to genetic counselors are lacking. We disseminated results from a study on reclassification of BRCA VUS using a mailed reclassification packet including a reclassification guide, patient education aid, and patient letter template for patients/families with BRCA VUS. This study reports on genetic counselors’ responses to the dissemination materials. Eligible participants (n = 1015) were identified using mailing lists from professional genetics organizations. Participants were mailed a BRCA VUS reclassification packet and a return postcard to assess responses to the materials. Closed-ended responses were analyzed using descriptive statistics, and thematic analysis was conducted on open-ended responses. In response to the mailing, 128 (13.0%) genetic counselors completed and returned postcards. The majority of respondents (n = 117; 91.4%) requested the patient letter template and patient education guides as PDFs (n = 122; 95.3%). The majority (n = 123; 96.9%) wanted an updated reclassification guide upon availability. Open-ended responses demonstrate the material was well-received; some specified they would tailor the patient letter to fit their practice and patients’ needs. Participants requested additional patient and provider educational materials for use in practice. Materials communicating BRCA VUS reclassification updates were liked and were likely to be used in practice. To achieve the benefits of VUS reclassification in clinical practice, ongoing efforts are needed to continuously and effectively disseminate findings to providers and patients.

Original languageEnglish (US)
Pages (from-to)209-215
Number of pages7
JournalJournal of Community Genetics
Volume9
Issue number3
DOIs
StatePublished - Jul 1 2018

Keywords

  • Genetic counseling
  • Genetic testing
  • Hereditary cancer
  • Patient education
  • VUS reclassification
  • Variant of uncertain significance (VUS)

ASJC Scopus subject areas

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

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