Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing

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• 作者：Shubhangi Arora ; Eden Haverfield ; Gabriele Richard…
• 关键词：Genetic counseling ; Whole exome sequencing
• 刊名：Journal of Genetic Counseling
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：25
• 期：2
• 页码：337-343
• 全文大小：292 KB
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• 作者单位：Shubhangi Arora (1)
  Eden Haverfield (2)
  Gabriele Richard (2)
  Susanne B. Haga (1)
  Rachel Mills (1)
  
  1. Center for Applied Genomics & Precision Medicine, Duke University, 304 Research Drive, Box 90141, Durham, NC, 27708, USA
  2. GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Public Health
  Clinical Psychology
  Gynecology
  Ethics
  
• 出版者：Springer Netherlands
• ISSN：1573-3599

文摘

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.