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

• Published in: Journal of genetic counseling Vol. 25; no. 6; pp. 1207 - 1214
• Main Authors: Krabbenborg, Lotte, Vissers, L. E. L. M., Schieving, J., Kleefstra, T., Kamsteeg, E. J., Veltman, J. A., Willemsen, M. A., Van der Burg, S.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.12.2016; Blackwell Publishing Ltd
• Subjects: Activities of daily living; Adaptation, Psychological; Adult; Best practice; Biomedical and Life Sciences; Biomedicine; Child; Children; Children & youth; Clinical Psychology; Coping strategies; Counseling; Diagnosis; Disease; Ethics; Exome; Genetic counseling; Genetic Counseling - psychology; Genetic counselling; Genetic disorders; Genetic Testing; Guilt; Gynecology; Human Genetics; Humans; Medical diagnosis; Original Research; Parental experiences; Parents & parenting; Parents - psychology; Pretest counselling; Psychosocial; Psychosocial factors; Public Health; Rare diseases; Rare Diseases - diagnosis; Rare Diseases - genetics; Recovery; Relief; Sequence Analysis, DNA; Social organization; Social psychology; Whole exome sequencing; Netherlands; Rare diseases; Psychosocial; Whole exome sequencing; Genetic counselling; Parental experiences
• ISSN: 1059-7700; 1573-3599
• DOI: 10.1007/s10897-016-9958-5

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.