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Article
Return of genetic and genomic research findings: Experience of a pediatric biorepository
BMC Medical Genomics
  • Tanya Papaz, University of Toronto
  • Eriskay Liston, Hospital for Sick Children University of Toronto
  • Laura Zahavich, Hospital for Sick Children University of Toronto
  • Dimitri J. Stavropoulos, Hospital for Sick Children University of Toronto
  • Rebekah K. Jobling, Hospital for Sick Children University of Toronto
  • Raymond H. Kim, Hospital for Sick Children University of Toronto
  • Miriam Reuter, Hospital for Sick Children University of Toronto
  • Anastasia Miron, University of Toronto
  • Erwin Oechslin, University of Toronto
  • Tapas Mondal, McMaster Children's Hospital
  • Lynn Bergin, London Health Sciences Centre
  • John F. Smythe, Kingston General Hospital, Ontario
  • Luis Altamirano-Diaz, London Health Sciences Centre
  • Jane Lougheed, Children's Hospital of Eastern Ontario, Ottawa
  • Roderick Yao, Hospital for Sick Children University of Toronto
  • Oyediran Akinrinade, Hospital for Sick Children University of Toronto
  • Jeroen Breckpot, Hospital for Sick Children University of Toronto
  • Seema Mital, University of Toronto
Document Type
Article
Publication Date
11-27-2019
URL with Digital Object Identifier
10.1186/s12920-019-0618-0
Abstract

Background: Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants. Methods: Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disease. Clinically actionable research findings were reviewed by a Return of Research Results Committee (RRR) and returned to the physician or disclosed directly to the participant through a research genetic counselor. Action taken following receipt of this information was reviewed. Results: Genetic data was generated in 1963 of 7408 participants. Fifty-nine new findings were presented to the RRR committee; 20 (34%) were deemed reportable. Twelve were returned to the physician, of which 7 were disclosed to participants (median time to disclosure, 192 days). Seven findings were returned to the research genetic counselor; all have been disclosed (median time to disclosure, 19 days). Twelve families (86%) opted for referral to clinical genetics after disclosure of findings; 7 results have been validated, 5 results are pending. Average cost of return and disclosure per reportable finding incurred by the research program was $750 when utilizing a research genetic counselor; clinical costs associated with return were not included. Conclusions: Return of actionable research findings was faster if disclosed directly to the participant by a research genetic counselor. There was a high acceptability amongst participants for receiving the findings, for referral to clinical genetics, and for clinical validation of research findings, with all referred cases being clinically confirmed.

Citation Information
Tanya Papaz, Eriskay Liston, Laura Zahavich, Dimitri J. Stavropoulos, et al.. "Return of genetic and genomic research findings: Experience of a pediatric biorepository" BMC Medical Genomics Vol. 12 Iss. 1 (2019)
Available at: http://works.bepress.com/luis-altamirano-diaz/13/