title: Whole-exome sequencing in pediatrics: parents' considerations toward return of unsolicited findings for their child.
abstract: 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 considerations (considerations of usefulness of knowing UFs, not rooted in (preventive) medical treatment or controls) were given in favor of disclosure of UFs. Sometimes the child's future autonomy formed a reason to withhold UFs at present, despite an unfavorable prognosis concerning the child's cognitive capabilities. Some parents only preferred receiving UFs if these findings were directly related to their reasons for seeking a diagnosis. These findings are essential for developing morally responsible policy and for counseling. Further research should focus on whether considerations of non-medical utility alone can justify disclosure of UFs and whether reasons for seeking a diagnosis place further constraints on what UFs may be returned/withheld. How parents can be aided in contemplating different scenarios regarding their child's future development also deserves further inquiry.
authors.affiliation: Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.|Ethics Institute, Utrecht University, Utrecht, The Netherlands.
authors.forename: Candice
authors.initials: C
authors.lastname: Cornelis
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Aad
authors.initials: A
authors.lastname: Tibben
authors.affiliation: Department of Health, Ethics and Society, Maastricht University, Maastricht, The Netherlands.
authors.forename: Wybo
authors.initials: W
authors.lastname: Dondorp
authors.affiliation: Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Mieke
authors.initials: M
authors.lastname: van Haelst
authors.affiliation: Julius Center, Department of Medical Humanities, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Annelien L
authors.initials: AL
authors.lastname: Bredenoord
authors.affiliation: Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Nine
authors.initials: N
authors.lastname: Knoers
authors.affiliation: Ethics Institute, Utrecht University, Utrecht, The Netherlands.
authors.forename: Marcus
authors.initials: M
authors.lastname: Düwell
authors.affiliation: Ethics Institute, Utrecht University, Utrecht, The Netherlands.
authors.forename: Ineke
authors.initials: I
authors.lastname: Bolt
authors.affiliation: Department of General Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Marieke
authors.initials: M
authors.lastname: van Summeren
mesh_terms: D059472:Exome; D005817:Genetic Counseling / Q000941:ethics*; D005820:Genetic Testing / Q000941:ethics*; D006801:Humans; D057828:Informed Consent By Minors / Q000941:ethics* / Q000523:psychology / Q000592:standards; D033242:Minors / Q000523:psychology; D010290:Parents / Q000523:psychology*; D017422:Sequence Analysis, DNA / Q000941:ethics*; D014342:Truth Disclosure