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Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?
  1. J A Anderson1,2,3,
  2. M S Meyn4,5,6,7,8,
  3. C Shuman4,5,6,9,
  4. R Zlotnik Shaul1,3,8,10,
  5. L E Mantella11,12,
  6. M J Szego3,13,14,15,
  7. S Bowdin4,6,8,
  8. N Monfared4,
  9. R Z Hayeems4,10,16
  1. 1 Department of Bioethics, The Hospital for Sick Children, Toronto, Canada
  2. 2 Holland Bloorview Kids Rehabilitation Hospital, University of Toronto, Toronto, Canada
  3. 3 Joint Centre for Bioethics, University of Toronto, Toronto, Canada
  4. 4 The Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Canada
  5. 5 Department of Molecular Genetics, University of Toronto, Toronto, Canada
  6. 6 Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
  7. 7 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
  8. 8 Department of Paediatrics, University of Toronto, Toronto, Canada
  9. 9 Genetic Counselling, The Hospital for Sick Children, Toronto, Canada
  10. 10 Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Canada
  11. 11 Keenan Research Centre for Biomedical Science, St. Michael's Hospital, Toronto, Canada
  12. 12 Department of Pharmacology & Toxicology, University of Toronto, Toronto, Canada
  13. 13 St. Joseph's Health Centre, Toronto, Canada
  14. 14 The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada
  15. 15 Department of Family and Community Medicine, University of Toronto, Toronto, Canada
  16. 16 Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada
  1. Correspondence to Dr Randi Zlotnik Shaul, Department of Bioethics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada; randi.zlotnik-shaul{at}sickkids.ca

Abstract

Objective 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.

Methods 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.

Results 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.

Conclusions 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.

  • Genethics
  • Genetic Screening/Testing
  • Family
  • Children
  • Genetic Information

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Footnotes

  • Contributors All authors have substantial contributions to the conception or design of the work; the acquisition, analysis or interpretation of data for the work; drafted the work or revised it critically for important intellectual content; provided final approval of the version to be published; and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Funding McLaughlin Centre, University of Toronto (MC-2013-15).

  • Competing interests None.

  • Ethics approval The Research Ethics Board of The Hospital for Sick Children, Toronto, Canada.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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