Views of children and young adults about Whole Genome Sequencing in Newborn Screening: A qualitative study

Abstract Whole Genome Sequencing (WGS) in newborn screening is ethically complex. We explored the views of young adults and 11–15 year olds to understand the views of the next generation of parents and those approaching the age at which they could be asked to reconsent to the storage of their genomes. This two-phase UK study involved: a secondary data analysis of focus groups with young adults; a diary and focus group study with children with CF. Diaries were analysed using content analysis, focus group data were analysed using reflexive thematic analysis. Diaries illustrated how children formed genomic knowledge and their salient questions. Participants broadly supported WGS-NBS, but this is driven by a belief that all results improve health. Pre-study knowledge was sometimes correct, other-times it drew on vicarious ideas which could cause distress. Children showed an ability to appreciate the complexity of deciding which results should be returned. Focus groups: All participants counterbalanced the benefits and risks of WGS-NBS. Children demonstrated innate trust in doctors, whereas young adults wanted parent-doctor collaboration in decision-making around WGS. Young adults conditional supported WGS-NBS depending on factors including treatability and consent. Although children want parents to be informed of all results and value knowledge of conditions, they too valued informed choice. More research is needed to understand healthy children’s views. Although small samples this work provides insight into the understanding and concerns of young adults and children which could help when trying to discuss this topic with them.