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J Genet Couns. 2016 Dec;25(6):1207-1214. Epub 2016 Apr 20.

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.

Author information

1
Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands. L.Krabbenborg@science.ru.nl.
2
Institute for Science, Innovation and Society (ISIS), Radboud University, P.O. Box 9010, 6500, Nijmegen, the Netherlands. L.Krabbenborg@science.ru.nl.
3
Department of Human Genetics, Donders Centre for Neuroscience, Radboudumc, Geert Grooteplein 10, 6525, Nijmegen, the Netherlands.
4
Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.
5
Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 6229, Maastricht, the Netherlands.
6
Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

Abstract

The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test counselling procedures for WES, little is known about how parents experience the (positive, negative, or inconclusive) WES results in daily life. To fill this knowledge gap, data were gathered through in-depth interviews with parents of 15 children who underwent WES analysis. WES test results, like results from other genetic tests, evoked relief as well as worries, irrespective of the type of result. Advantages of obtaining a conclusive diagnosis included becoming more accepting towards the situation, being enabled to attune care to the needs of the child, and better coping with feelings of guilt. Disadvantages experienced included a loss of hope for recovery, and a loss by parents of their social network of peers and the effort necessary to re-establish that social network. While parents with conclusive diagnoses were able to re-establish a peer community with the help of social media, parents receiving a possible diagnosis experienced hurdles in seeking peer support, as peers still needed to be identified. These types of psychosocial effects of WES test results for parents are important to take into account for the development of successful genetic counselling strategies.

KEYWORDS:

Genetic counselling; Parental experiences; Psychosocial; Rare diseases; Whole exome sequencing

PMID:
27098417
PMCID:
PMC5114322
DOI:
10.1007/s10897-016-9958-5
[Indexed for MEDLINE]
Free PMC Article

Conflict of interest statement

L. Krabbenborg, L.E.L.M. Vissers, J. Schieving, T. Kleefstra, E.J. Kamsteeg, J.A. Veltman, M.A. Willemsen and S. Van der Burg declare that they have no conflict of interest. Human Studies and Informed Consent All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study. Animal Studies This article does not contain any studies with animals performed by any of the authors.

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