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从实验室到临床:与执业遗传学专业人员共享BRCA意义未明变异(VUS)的重新分类工具。

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

作者信息

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

机构信息

Department of Health Outcomes and Behavior, Moffitt Cancer Center, 12902 Magnolia Drive, MFC-CRISP, Tampa, FL, 33612, USA.

Department of Communication Studies, Northwestern University, Evanston, IL, USA.

出版信息

J Community Genet. 2018 Jul;9(3):209-215. doi: 10.1007/s12687-017-0343-3. Epub 2017 Nov 9.

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.

摘要

尽管一直在努力对意义不明确的BRCA变异(VUS)进行重新分类,但仍缺乏将研究结果传达给遗传咨询师的策略。我们通过邮寄重新分类包来传播一项关于BRCA VUS重新分类的研究结果,该包包括一份重新分类指南、患者教育辅助材料以及给携带BRCA VUS的患者/家庭的患者信件模板。本研究报告了遗传咨询师对这些传播材料的反馈。使用专业遗传学组织的邮件列表确定了符合条件的参与者(n = 1015)。向参与者邮寄了一份BRCA VUS重新分类包和一张回邮明信片,以评估他们对这些材料的反应。使用描述性统计分析封闭式回答,并对开放式回答进行主题分析。针对此次邮寄,128名(13.0%)遗传咨询师填写并寄回了明信片。大多数受访者(n = 117;91.4%)要求提供患者信件模板和患者教育指南的PDF版本(n = 122;95.3%)。大多数人(n = 123;96.9%)希望在有更新的重新分类指南时能收到。开放式回答表明这些材料很受欢迎;一些人明确表示会根据自己的实践和患者需求对患者信件进行调整。参与者要求提供更多用于实践的患者和提供者教育材料。传达BRCA VUS重新分类更新的材料受到喜爱,并且可能会在实践中使用。为了在临床实践中实现VUS重新分类的益处,需要持续不断地努力,将研究结果有效地传达给提供者和患者。

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