Whole-exome sequencing in pediatrics: parents' considerations toward return of unsolicited findings for their child
- Cornelis, Candice
- Tibben, Aad
- Dondorp, Wybo
- van Haelst, Mieke
- Bredenoord, Annelien L
- Knoers, Nine
- Düwell, Marcus
- Bolt, Ineke
- van Summeren, Marieke
DOIAbstract
Parents' preferences for unsolicited findings (UFs) from diagnostic whole-exome sequencing (WES) for their children remain largely unexplored. Our aim was to gain insight into parental considerations favoring acceptance/decline of UFs pertaining to their child. We conducted 20 qualitative, semistructured interviews with parents (n=34) of children with a developmental delay, aged <1 to 17 years, after consenting to WES, but before feedback of results. Key findings from our study were that all parents favored acceptance of UFs for medically actionable conditions in childhood, but that preferences and considerations diverged for UFs with no medical actionability, or only in adulthood, and regarding carrier-status. Sometimes non-medical utility...
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