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The challenge of consent in clinical genome-wide testing
  1. Katherine Burke,
  2. Angus Clarke
  1. Institute of Medical Genetics, University Hospital Wales, Cardiff, UK
  1. Correspondence to Dr Katherine Burke, Paediatric Registrar and Wellcome Fellow in Society and Ethics, Institute of Medical Genetics, University Hospital Wales, Heath Park, Cardiff CF14 4XW, UK; katherine.burke{at}


Genome-wide testing methods include array comparative genomic hybridisation (aCGH), multiple gene panels, whole exome sequencing (WE) and whole genome sequencing (WGS). Here we introduce some of the key ethical and social considerations relating to informed consent for the testing of children, particularly the management of incidental findings and variants of unknown significance.

  • General Paediatrics
  • Genetics
  • Neonatology
  • Ethics

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  • Twitter Follow Katherine Burke at @drkneely

  • Contributors KB had primary responsibility for conceiving this paper, reviewing the literature, writing the first draft and editing the manuscript. AC contributed to the analysis, provided feedback on drafts and supports the final version.

  • Funding KB is supported in this work by a Wellcome Fellowship for Healthcare Professionals (Society and Ethics).

  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.

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