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Implementing genomic screening in diverse populations.

Noura S Abul-HusnEmily R SoperGiovanna T BraganzaJessica E RodriguezNatasha ZeidSinead CullinaDean BoboArden MoscatiAmanda MerkelsonRuth J F LoosJudy H ChoGillian M BelbinSabrina A SuckielEimear E Kenny
Published in: Genome medicine (2021)
The addition of TTR to a pilot genomic screening program meant that we returned results to a higher proportion of AA and HL participants, in comparison with genes traditionally included in genomic screening programs in the USA. We found that the majority of participants in a multi-ethnic biobank are interested in receiving genomic results for medically actionable conditions. These findings increase knowledge about the perspectives of diverse research participants on receiving genomic results and inform the broader implementation of genomic medicine in underrepresented patient populations.
Keyphrases
  • copy number
  • healthcare
  • quality improvement
  • public health
  • genome wide
  • randomized controlled trial
  • study protocol
  • gene expression
  • case report
  • genome wide analysis