University of Utah Graduate Program in Genetic Counseling, Salt Lake City, Utah.
Department of Pediatrics, University of Utah, Salt Lake City, Utah.
J Genet Couns. 2020 Dec;29(6):1234-1244. doi: 10.1002/jgc4.1292. Epub 2020 May 26.
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.
鲜有研究探索过参与二级发现(SFs)回报过程的遗传咨询师的真实体验和策略。本研究旨在描述和分类从临床测序中回报 SFs 的体验。通过迭代、团队合作的方法对 21 位遗传咨询师(代表 56 例事件)进行了半结构化电话访谈。对转录本进行了内容分析。所有访谈都出现了四个常见类别。这些类别包括:(a)SFs 回报前测试咨询的重要性,(b)主要测试结果如何影响 SFs 的重要性程度,(c)患者收到 SF 结果后的情绪反应,以及(d)回报 SFs 如何改变未来的前测试咨询和同意。本研究确定了回报 SFs 的遗传咨询师的体验和常见做法。需要进一步研究评估遗传咨询师的特定策略如何提高患者的理解和医疗行动。