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Experiences and lessons learned by genetic counselors in returning secondary genetic findings to patients.
Journal of Genetic Counseling ( IF 1.9 ) Pub Date : 2020-05-26 , DOI: 10.1002/jgc4.1292
Carly Rost 1 , Karin M Dent 1, 2 , Jeffrey Botkin 2 , Erin Rothwell 3
Affiliation  

Few studies have explored the real‐world experiences and strategies of genetic counselors involved in the process of returning secondary findings (SFs). This study aimed to describe and categorize the experiences for the return of SFs from clinical sequencing. Semi‐structured telephone interviews with 21 genetic counselors representing 56 incidences were conducted. A content analysis was conducted on the transcripts through an iterative, team‐based approach. Four common categories emerged across all interviews. These included (a) the importance of pretest counseling for the return of SFs, (b) how primary test results influenced the level of importance placed on the SFs, (c) patients' emotional reactions from receiving SF results, and (d) how returning SFs changed future pretest counseling and consent. This study identified experiences and common practices by genetic counselors who returned SFs. More research is needed to assess how genetic counselors' specific strategies improve patient comprehension and medical actions.

中文翻译:

遗传咨询师在将次生遗传发现归还给患者方面的经验和教训。

很少有研究探索参与返回次要发现(SF)过程的遗传咨询师的现实经验和策略。这项研究旨在描述和分类从临床测序中获得SF的经验。进行了半结构式电话采访,涉及21位遗传咨询师(代表56次)。通过基于团队的迭代方法对笔录进行内容分析。在所有访谈中出现了四个常见类别。其中包括(a)预科咨询对返还SF的重要性;(b)初步测试结果如何影响对SF的重视程度;(c)病人因收到SF结果而产生的情绪反应;以及(d)如何返回的科幻小说改变了未来的测试前咨询和同意。这项研究确定了返回SF的遗传咨询师的经验和常规做法。需要更多的研究来评估遗传咨询师的具体策略如何提高患者的理解力和医疗效果。
更新日期:2020-05-26
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