From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals
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ORIGINAL ARTICLE
From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals Bianca M. Augusto 1 & Paige Lake 1 & Courtney L. Scherr 2 & Fergus J. Couch 3 & Noralane M. Lindor 4 & Susan T. Vadaparampil 1
Received: 16 March 2017 / Accepted: 19 October 2017 # Springer-Verlag GmbH Germany 2017
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 Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12687-017-0343-3) contains supplementary material, which is available to authorized users. * Susan T. Vadaparampil [email protected] 1
Department of Health Outcomes and Behavior, Moffitt Cancer Center, 12902 Magnolia Drive, MFC-CRISP, Tampa, FL 33612, USA
2
Department of Communication Studies, Northwestern University, Evanston, IL, USA
3
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
4
Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ, USA
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 BRCAVUS 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. Keywords Genetic counseling . Genetic testing . Variant of uncertain significance (VUS) . VUS reclassification . Hereditary cancer . Patient education
Introduction Approximately 5–10% of all breast (Campeau et al. 2008) and 15% of all ovarian (Pal et al. 2005) cancers in women are the result of mutations in inherited cancer susceptibility genes. Genetic testing for such genes among
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