Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing
Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing
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DOI：
10.1007/s10897-015-9876-y
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发表时间：
2016-04-01
影响因子：
1.9
通讯作者：
Mills, Rachel
中科院分区：
文献类型：
--
作者：
Arora, Shubhangi;Haverfield, Eden;Mills, Rachel
目前，有关全外显子组测序（WES）遗传咨询实践的数据有限。更好地了解遗传咨询师和其他提供者如何教育，咨询和交流结果可能会确定实践趋势，以及患者或提供者的需求。在2013年4月至2014年12月期间，我们调查了从CLIA认证实验室GeneDx订购WES检测的供应商。49名受访者完成了调查; 41%的参与者报告了遗传咨询的董事会认证。除了一个案例外，其他所有案例都完成了测试前和测试后的咨询。53%的病例的考前咨询持续时间不到1小时，43%的病例为1至2小时。与所有患者讨论的主题包括同意检测和偶然发现;其他主题是可变的。与测试前咨询相比，59%的人报告测试后咨询持续1至2小时，33%不到1小时;测试后咨询在确诊病例中的时间明显长于未确诊病例（p = 0.0129）。调查结果表明，在考前咨询中，咨询所花的时间和讨论的主题存在一定的差异。额外的探索，病人和供应商的教育资源，并可能更具体的指导方针，关于咨询WES可能是必要的。
Currently, there are limited data regarding the practice of genetic counseling for whole exome sequencing (WES). Improved understanding of how genetic counselors and other providers are educating, counseling, and communicating results may identify practice trends, and patient or provider needs. Between April 2013 and December 2014, we surveyed providers who ordered WES testing from GeneDx, a CLIA-certified laboratory. Forty-nine respondents completed the survey; 41 % of participants reported board certification in genetic counseling. Pre-test and post-test counseling was completed in all but one case each. Pre-test counseling lasted less than 1 h for 53 % of cases and 1 to 2 h for 43 %. Topics discussed with all patients included consent for testing, and incidental findings; other topics were variable. In contrast to pre-test counseling, 59 % reported post-test counseling lasting 1 to 2 h and 33 % less than an hour; post-testing counseling was significantly longer in cases with a definitive diagnosis than those without (p = 0.0129). The survey findings indicate some variability regarding the amount of time spent on counseling and the topics discussed during pre-test counseling. Additional exploration, patient and provider educational resources, and potentially more specific guidelines regarding counseling for WES may be warranted.