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Pediatric Whole Exome Sequencing: an Assessment of Parents’ Perceived and Actual Understanding.
Author(s) -
Tolusso Leandra K.,
Collins Kathleen,
Zhang Xue,
Holle Jennifer R.,
Valencia C. Alexander,
Myers Melanie F.
Publication year - 2017
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-016-0052-9
Subject(s) - exome sequencing , medicine , genetic counseling , human genetics , exome , family medicine , genetics , mutation , biology , gene
Whole exome sequencing (WES) is an integral tool in the diagnosis of genetic conditions in pediatric patients, but concerns have been expressed about the complexity of the information and the possibility for secondary findings that need to be conveyed to those deciding about WES. Currently, there is no validated tool to assess parental understanding of WES. We developed and implemented a survey to assess perceived and actual understanding of WES in parents who consented to clinical WES for their child between July 2013 and May 2015. Fifty‐three eligible surveys were returned (57% response rate). Areas with both low perceived and actual understanding about WES included how genes are analyzed and lack of protection against life insurance discrimination. Parents also had low actual understanding for two questions related to secondary findings – reporting of secondary findings in a parent (if tested) and whether secondary findings can be related to traits such as height and hair color. Further work to develop a validated tool to assess understanding of WES would be beneficial as WES is integrated more frequently into clinical care.