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

Tanya PapazEriskay ListonLaura ZahavichDimitri J StavropoulosRebekah K JoblingRaymond H KimMiriam ReuterAnastasia MironErwin OechslinTapas MondalLynn BerginJohn F SmytheLuis Altamirano-DiazJane LougheedRoderick YaoOyediran AkinrinadeJeroen BreckpotSeema Mital
Published in: BMC medical genomics (2019)
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.
Keyphrases
  • copy number
  • primary care
  • genome wide