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The 100 000 Genomes Project: What it means for paediatrics
  1. Blanche H Griffin1,
  2. Lyn S Chitty1,2,
  3. Maria Bitner-Glindzicz1,2
  1. 1North Thames NHS Genomic Medicine Centre, Great Ormond Street NHS Foundation Trust, London, UK
  2. 2Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK
  1. Correspondence to Professor Lyn Chitty, North-East Thames Regional Genetics Laboratory, 5th Floor, Barclay House, 37 Queen Square, London WC1N 3BH, UK; l.chitty{at}

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The 100 000 Genomes Project is a unique, national programme combining research and transformation of clinical care, by undertaking whole genome sequencing (WGS) in patients with rare diseases and cancer. Made possible by technological advances in next-generation sequencing1 and falling costs, this project aims to find the genes which cause a patient's rare disease and identify genetic changes which occur in the tumour of a child or adult with cancer, to understand the mechanism of disease and develop therapies to personalise treatment. Patients are recruited through the National Health Service (NHS) and their medical course is tracked for life through their NHS number with results fed back through routine NHS services. It will also lay the foundations for a new ‘genomic medicine’ service for the NHS.2 The project is coordinated by Genomics England, with participants enrolled through one of 13 NHS Genomic Medicine Centres (figure 1), covering all of England. Unlike genome projects in other countries3 that have yielded information on variants associated with common diseases and ancestry, the scale of the 100 000 Genomes Project is much greater. The ability to track long-term outcomes through the patients' NHS number provides a unique opportunity to link genomic and phenotypic data to hospital admissions (via hospital episode statistics) as well as lifelong response to interventions and treatments.

Figure 1

Schema showing pathway from patient recruitment to results. Note the need for interaction between clinicians, scientists and geneticists working in multidisciplinary teams to deliver this new genomic medicine service. More detailed information can be found on the Genomics England website.2 GMC, Genomics Medicine Centre; GeL, Genomics England; MDT, multidisciplinary team meeting including clinical scientists, clinical geneticists and referring clinicians).

Which children are eligible and how to refer?

Many children with a rare disease but no known underlying cause are eligible. A local clinical geneticist …

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  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.