Pediatric Whole Exome Sequencing: an Assessment of Parents’ Perceived and Actual Understanding
| Autor: | C. Alexander Valencia, Jennifer Holle, Kathleen Collins, Melanie F. Myers, Xue Zhang, Leandra K. Tolusso |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
Male Parents 0301 basic medicine Health Knowledge Attitudes Practice medicine.medical_specialty Adolescent Genetic counseling Genetic Counseling 030105 genetics & heredity 03 medical and health sciences Informed consent Life insurance Exome Sequencing Humans Medicine Genetic Testing Clinical care Child Genetics (clinical) Exome sequencing Response rate (survey) business.industry Public health Middle Aged Child Preschool Family medicine Female business Social psychology |
| Zdroj: | Journal of Genetic Counseling. 26:792-805 |
| ISSN: | 1573-3599 1059-7700 |
| DOI: | 10.1007/s10897-016-0052-9 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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