Return of genetic and genomic research findings: experience of a pediatric biorepository.

Autor: Papaz T; Division of Cardiology, Labatt Family Heart Centre, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada., Liston E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, Hospital for Sick Children, Toronto, ON, Canada., Zahavich L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Stavropoulos DJ; Genome Diagnostics, Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Jobling RK; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, Hospital for Sick Children, Toronto, ON, Canada.; Genome Diagnostics, Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Kim RH; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, Hospital for Sick Children, Toronto, ON, Canada.; Division of Medical Oncology, Department of Medicine, University of Toronto, Toronto, ON, Canada., Reuter M; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, Hospital for Sick Children, Toronto, ON, Canada., Miron A; Division of Cardiology, Labatt Family Heart Centre, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada., Oechslin E; Division of Cardiology, Labatt Family Heart Centre, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.; Division of Cardiology, Toronto Congenital Cardiac Centre for Adults at Peter Munk Cardiac Centre, Department of Medicine, University Health Network, Toronto, ON, Canada., Mondal T; Division of Cardiology, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada., Bergin L; Division of Cardiology, Department of Medicine, London Health Sciences Centre, London, ON, Canada., Smythe JF; Division of Cardiology, Department of Pediatrics, Kingston General Hospital, Kingston, ON, Canada., Altamirano-Diaz L; Division of Cardiology, Department of Pediatrics, London Health Sciences Centre, London, ON, Canada., Lougheed J; Division of Cardiology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Yao R; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Akinrinade O; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Breckpot J; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium., Mital S; Division of Cardiology, Labatt Family Heart Centre, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada. seema.mital@sickkids.ca.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada. seema.mital@sickkids.ca.
Jazyk: angličtina
Zdroj: BMC medical genomics [BMC Med Genomics] 2019 Nov 27; Vol. 12 (1), pp. 173. Date of Electronic Publication: 2019 Nov 27.
DOI: 10.1186/s12920-019-0618-0
Abstrakt: 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.
Databáze: MEDLINE
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