Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing
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ORIGINAL RESEARCH
Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing Shubhangi Arora 1 & Eden Haverfield 2 & Gabriele Richard 2 & Susanne B. Haga 1 & Rachel Mills 1
Received: 18 February 2015 / Accepted: 10 August 2015 # National Society of Genetic Counselors, Inc. 2015
Abstract 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. Keywords Genetic counseling . Whole exome sequencing
* Rachel Mills [email protected] 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
Introduction Whole genome sequencing (WGS) and whole exome sequencing (WES) have garnered substantial interest as tests for diagnosable genetic conditions (Biesecker and Green 2014). An increasing number of reports have been published regarding the clinical use of WGS and WES, demonstrating a 25–31 % success rate in identifying disease-causing genetic changes (Atwal et al. 2014; Dewey et al. 2014; Farwell et al. 2014; Jacob et al. 2013; Lee et al. 2014; McCarthy et al. 2013; Strom et al. 2014; Taylor et al. 2015; Yang et al. 2013, 2014). Several diagnostic laboratories nationwide now offer next generation sequencing, including WGS and WES, as clinical tests.(Ashley et al. 2010; Choi et al. 2009; Ku et al. 2011) Like many other new genomic tests, WES/WGS raises questions about its clinical utility (Johansen Taber et al. 2014), particularly given the high cost at this time (though anticipated to continue to decline). Published case reports may reflect publication bias of clinical examples where WES/WGS has found a causative mutation and this information led to improved health outcomes. The clinical value may be somewhat di
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