Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.
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.
Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands. L.Krabbenborg@science.ru.nl.|Institute for Science, Innovation and Society (ISIS), Radboud University, P.O. Box 9010, 6500, Nijmegen, the Netherlands. L.Krabbenborg@science.ru.nl.
Lotte
L
Krabbenborg
Department of Human Genetics, Donders Centre for Neuroscience, Radboudumc, Geert Grooteplein 10, 6525, Nijmegen, the Netherlands.
L E L M
LE
Vissers
Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.
J
J
Schieving
Department of Human Genetics, Donders Centre for Neuroscience, Radboudumc, Geert Grooteplein 10, 6525, Nijmegen, the Netherlands.
T
T
Kleefstra
Department of Human Genetics, Donders Centre for Neuroscience, Radboudumc, Geert Grooteplein 10, 6525, Nijmegen, the Netherlands.
E J
EJ
Kamsteeg
Department of Human Genetics, Donders Centre for Neuroscience, Radboudumc, Geert Grooteplein 10, 6525, Nijmegen, the Netherlands.|Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 6229, Maastricht, the Netherlands.
J A
JA
Veltman
Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.
M A
MA
Willemsen
Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
S
S
Van der Burg
D000223:Adaptation, Psychological; D000328:Adult; D002648:Child; D059472:Exome; D005817:Genetic Counseling / Q000523:psychology*; D005820:Genetic Testing; D006801:Humans; D010290:Parents / Q000523:psychology*; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics*; D017422:Sequence Analysis, DNA
Genetic counselling; Parental experiences; Psychosocial; Rare diseases; Whole exome sequencing