Article Text

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


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

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • 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.

  • Correction notice This paper has been amended since it was published Online First. The corresponding author’s details were incorrect and these have now been updated.