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Review
Genomics for paediatricians: promises and pitfalls
  1. Carrie Louise Hammond1,
  2. Josh Matthew Willoughby2,
  3. Michael James Parker1
  1. 1Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK
  2. 2Sheffield Diagnostic Genetic Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK
  1. Correspondence to and Dr Michael James Parker, , Sheffield Clinical Genetics Service, Sheffield Children’s Hospital NHS Foundation Trust, Sheffield S10 2TH, UK; michael.parker{at}sch.nhs.uk

Abstract

In recent years, there have been significant advances in genetic technologies, evolving the field of genomics from genetics. This has huge diagnostic potential, as genomic testing increasingly becomes part of mainstream medicine. However, there are numerous potential pitfalls in the interpretation of genomic data. It is therefore essential that we educate clinicians more widely about the appropriate interpretation and utilisation of genomic testing.

  • mainstreaming

https://doi.org/10.1136/archdischild-2017-314558

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    Footnotes

    • Contributors MJP conceived of the idea for the review with design input from CLH and JMW. All authors reviewed the appropriate literature. CLH drafted the article with MJP and JMW providing input on specific content.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.