Return of genetic and genomic research findings: experience of a pediatric biorepository Academic Article uri icon

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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.

authors

  • Papaz, Tanya
  • Liston, Eriskay
  • Zahavich, Laura
  • Stavropoulos, Dimitri J
  • Jobling, Rebekah K
  • Kim, Raymond H
  • Reuter, Miriam
  • Miron, Anastasia
  • Oechslin, Erwin
  • Mondal, Tapas
  • Bergin, Lynn
  • Smythe, John F
  • Altamirano-Diaz, Luis
  • Lougheed, Jane
  • Yao, Roderick
  • Akinrinade, Oyediran
  • Breckpot, Jeroen
  • Mital, Seema

publication date

  • December 2019