From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals
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.
KeywordsGenetic counseling Genetic testing Variant of uncertain significance (VUS) VUS reclassification Hereditary cancer Patient education
This work was supported by the Breast Cancer Spore CA 116201. This work was supported in part by the Survey Methods Core Facility at the H. Lee Moffitt Cancer Center & Research Institute; a National Cancer Institute designated Comprehensive Cancer Center (P30-CA76292).
Compliance with ethical standards
Conflict of interest
Authors Augusto, Lake, Scherr, Lindor, and Couch declare that they have no conflict of interest. Author Vadaparampil has a research grant from Myriad Genetics Laboratories.
Human studies and informed consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Prior to conducting this study, approval was obtained from the University of South Florida and Mayo Clinic IRBs.
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