Return of genetic and genomic research findings: Experience of a pediatric biorepository

Authors

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 CentreFollow
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

Journal

BMC Medical Genomics

Volume

12

Issue

1

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.