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

• Main Authors: Tanya Papaz (Author), Eriskay Liston (Author), Laura Zahavich (Author), Dimitri J. Stavropoulos (Author), Rebekah K. Jobling (Author), Raymond H. Kim (Author), Miriam Reuter (Author), Anastasia Miron (Author), Erwin Oechslin (Author), Tapas Mondal (Author), Lynn Bergin (Author), John F. Smythe (Author), Luis Altamirano-Diaz (Author), Jane Lougheed (Author), Roderick Yao (Author), Oyediran Akinrinade (Author), Jeroen Breckpot (Author), Seema Mital (Author)
• Format: Book
• Published: BMC, 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

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.

Item Description

10.1186/s12920-019-0618-0
1755-8794