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Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases
  1. Erika Kleiderman1,
  2. Bartha Maria Knoppers1,
  3. Conrad V Fernandez2,
  4. Kym M Boycott3,
  5. Gail Ouellette4,
  6. Durhane Wong-Rieger5,
  7. Shelin Adam6,
  8. Julie Richer7,
  9. Denise Avard1
  1. 1Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada
  2. 2Faculty of Medicine, Departments of Pediatrics and Bioethics, Dalhousie University, Halifax, Nova Scotia, Canada
  3. 3Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ontario, Canada
  4. 4Regroupement Québécois des Maladies Orphelines, Sherbrooke, Quebec, Canada
  5. 5Institute for Optimizing Health Outcomes, Canadian Organization for Rare Disorders, Toronto, Ontario, Canada
  6. 6Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
  7. 7Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
  1. Correspondence to Erika Kleiderman, Faculty of Medicine, Department of Human Genetics, Centre of Genomics and Policy, McGill University, 740 Dr Penfield Avenue, 5th Floor, Suite 5200, Montreal, Quebec, Canada H3A 0G1; erika.kleiderman{at}mail.mcgill.ca

Abstract

Purpose To explore parental perceptions and experiences regarding the return of genomic incidental research findings in children with rare diseases.

Methods Parents of children affected by various rare diseases were invited to participate in focus groups or individual telephone interviews in Montreal and Ottawa. Fifteen participants were interviewed and transcriptions were analysed using thematic analysis.

Results Four emergent themes underscored parental enthusiasm for receiving incidental findings concerning their child's health: (1) right to information; (2) perceived benefits and risks; (3) communication practicalities: who, when, and how; and (4) service needs to promote the communication of incidental findings. Parents believed they should be made aware of all results pertaining to their child's health status, and that they are responsible for transmitting this information to their child, irrespective of disease severity. Despite potential negative consequences, respondents generally perceived a favourable risk-benefit ratio in receiving all incidental findings.

Conclusions Understanding how parents assess the risks and benefits of returning incidental findings is essential to genomic research applications in paediatric medicine. The authors believe the study findings will contribute to establishing future best practices, although further research is needed to evaluate the impact of parental decisions on themselves and their child.

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/3.0/

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