title: Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?
abstract: To better understand the consequences of returning whole genome sequencing (WGS) results in paediatrics and facilitate its evidence-based clinical implementation, we studied parents' experiences with WGS and their preferences for the return of adult-onset secondary variants (SVs)-medically actionable genomic variants unrelated to their child's current medical condition that predict adult-onset disease.
  
  
  
  We conducted qualitative interviews with parents whose children were undergoing WGS as part of the SickKids Genome Clinic, a research project that studies the impact of clinical WGS on patients, families, and the healthcare system. Interviews probed parents' experience with and motivation for WGS as well as their preferences related to SVs. Interviews were analysed thematically.
  
  
  
  Of 83 invited, 23 parents from 18 families participated. These parents supported WGS as a diagnostic test, perceiving clear intrinsic and instrumental value. However, many parents were ambivalent about receiving SVs, conveying a sense of self-imposed obligation to take on the 'weight' of knowing their child's SVs, however unpleasant. Some parents chose to learn about adult-onset SVs for their child but not for themselves.
  
  
  
  Despite general enthusiasm for WGS as a diagnostic test, many parents felt a duty to learn adult-onset SVs. Analogous to 'inflicted insight', we call this phenomenon 'inflicted ought'. Importantly, not all parents of children undergoing WGS view the best interests of their child in relational terms, thereby challenging an underlying justification for current ACMG guidelines for reporting incidental secondary findings from whole exome and WGS.
authors.affiliation: Department of Bioethics, The Hospital for Sick Children, Toronto, Canada.|Holland Bloorview Kids Rehabilitation Hospital, University of Toronto, Toronto, Canada.|Joint Centre for Bioethics, University of Toronto, Toronto, Canada.
authors.forename: J A
authors.initials: JA
authors.lastname: Anderson
authors.affiliation: The Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Canada.|Department of Molecular Genetics, University of Toronto, Toronto, Canada.|Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada.|Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada.|Department of Paediatrics, University of Toronto, Toronto, Canada.
authors.forename: M S
authors.initials: MS
authors.lastname: Meyn
authors.affiliation: The Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Canada.|Department of Molecular Genetics, University of Toronto, Toronto, Canada.|Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada.|Genetic Counselling, The Hospital for Sick Children, Toronto, Canada.
authors.forename: C
authors.initials: C
authors.lastname: Shuman
authors.affiliation: Department of Bioethics, The Hospital for Sick Children, Toronto, Canada.|Joint Centre for Bioethics, University of Toronto, Toronto, Canada.|Department of Paediatrics, University of Toronto, Toronto, Canada.|Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Zlotnik Shaul
authors.affiliation: Keenan Research Centre for Biomedical Science, St. Michael's Hospital, Toronto, Canada.|Department of Pharmacology & Toxicology, University of Toronto, Toronto, Canada.
authors.forename: L E
authors.initials: LE
authors.lastname: Mantella
authors.affiliation: Joint Centre for Bioethics, University of Toronto, Toronto, Canada.|St. Joseph's Health Centre, Toronto, Canada.|The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.|Department of Family and Community Medicine, University of Toronto, Toronto, Canada.
authors.forename: M J
authors.initials: MJ
authors.lastname: Szego
authors.affiliation: The Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Canada.|Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada.|Department of Paediatrics, University of Toronto, Toronto, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Bowdin
authors.affiliation: The Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Canada.
authors.forename: N
authors.initials: N
authors.lastname: Monfared
authors.affiliation: The Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Canada.|Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Canada.|Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.
authors.forename: R Z
authors.initials: RZ
authors.lastname: Hayeems
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002755:Choice Behavior; D030881:Disclosure; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D033162:Incidental Findings; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D028681:Moral Obligations; D009042:Motivation; D010287:Parent-Child Relations; D010290:Parents; D010372:Pediatrics; D036301:Qualitative Research; D011795:Surveys and Questionnaires; D000073336:Whole Genome Sequencing
keywords: Children; Family; Genethics; Genetic Information; Genetic Screening/Testing