Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child's future autonomy

Aad Tibben*, Wybo Dondorp, Candice Cornelis, Nine Knoers, Eva Brilstra, Marieke van Summeren, Ineke Bolt

*Bijbehorende auteur voor dit werk

    OnderzoeksoutputAcademicpeer review

    5 Citaten (Scopus)
    396 Downloads (Pure)


    In a previous study we found that parents of children with developmental delay (DD) favoured acceptance of unsolicited findings (UFs) for medically actionable conditions in childhood, but that preferences diverged for UFs with no medical actionability, or only in adulthood, and regarding carrier status. Sometimes the child's future autonomy formed a reason for withholding UFs for the present, despite an unfavourable prognosis concerning the child's cognitive capabilities. This might be different for children undergoing whole exome sequencing (WES) for reasons other than DD and who are expected to exert future autonomy. This is the focus of the current study. We conducted nine qualitative, semi-structured interviews with parents of children, ages

    Originele taal-2English
    Pagina's (van-tot)911-919
    Aantal pagina's9
    TijdschriftEuropean Journal of Human Genetics
    Nummer van het tijdschrift6
    Vroegere onlinedatum17-jan.-2021
    StatusPublished - jun.-2021

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