Intended for healthcare professionals


Policy challenges of clinical genome sequencing

BMJ 2013; 347 doi: (Published 22 November 2013) Cite this as: BMJ 2013;347:f6845
  1. Caroline F Wright, senior scientific manager1,
  2. Anna Middleton, ethics researcher1,
  3. Hilary Burton, director and public health consultant2,
  4. Fiona Cunningham, Ensembl variation project leader3,
  5. Steve E Humphries, professor of cardiovascular genetics4,
  6. Jane Hurst, consultant clinical geneticist5,
  7. Ewan Birney, associate director3,
  8. Helen V Firth, consultant clinical geneticist6
  1. 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
  2. 2PHG Foundation, Cambridge, UK
  3. 3European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK
  4. 4Centre for Cardiovascular Genetics, UCL Institute of Cardiovascular Science, University College London, London, UK
  5. 5North East Thames Genetics Service, Great Ormond Street Hospital, London, UK
  6. 6Cambridge University Hospitals Foundation Trust, Addenbrooke’s Hospital, Cambridge, UK
  1. Correspondence to: C F Wright caroline.wright{at}
  • Accepted 8 October 2013

Around the world, genome sequencing is moving from research into the clinic, and in the UK plans to sequence the genomes of 100 000 NHS patients are well underway. A clear policy on how to conduct genomic testing is therefore both essential and urgent, argue Caroline Wright and colleagues

Genetic testing is moving from analysis of specific genes to sequencing of the whole genome. Clinical genome-wide sequencing is already offered by a handful of private companies and diagnostic laboratories in the US and by some countries in Europe. In December 2012, the UK prime minister announced ambitious plans to sequence the whole genomes of 100 000 NHS patients over the next three to five years.1 And in July the Department of Health set up Genomics England to help deliver the 100K Genome Project into mainstream healthcare in the NHS, with the initial focus on patients having genetic testing for the diagnosis of rare disorders, cancers, and infectious disease.2 3 4 5 6 Policy makers around the world are currently grappling with how to guide the implementation of genome sequencing in the clinic. Clear testing policy now needs to be agreed that covers issues such as whom to test and how to store, protect, and share genomic data appropriately.

Why sequence genomes rather than genes?

Traditionally, molecular genetic tests have involved sequencing single genes. Although this has proved to be a powerful method for diagnosing patients with rare heritable diseases, it has important limitations; a clinician has to select just one gene to test from the roughly 20 000 in the human genome. For a few rare disorders, such as cystic fibrosis, the clinical presentation is sufficiently distinct to make this possible. But many conditions are genetically heterogeneous, meaning that the same clinical picture can be caused by mutations in any one of many genes—for example, hypertrophic …

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