Intended for healthcare professionals


The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

BMJ 2018; 361 doi: (Published 24 April 2018) Cite this as: BMJ 2018;361:k1687
  1. Clare Turnbull, professor14,
  2. Richard H Scott, consultant clinical geneticist1 5,
  3. Ellen Thomas, consultant clinical geneticist1 2,
  4. Louise Jones, professor1 6,
  5. Nirupa Murugaesu, consultant oncologist1 7,
  6. Freya Boardman Pretty, researcher1,
  7. Dina Halai, researcher1,
  8. Emma Baple, consultant clinical geneticist1 8,
  9. Clare Craig, consultant pathologist1 ,
  10. Angela Hamblin, consultant haematologist1 9,
  11. Shirley Henderson, researcher1 10,
  12. Christine Patch, consultant genetic counsellor1 2 11,
  13. Amanda O’Neill, researcher1 12,
  14. Andrew Devereau, researcher1,
  15. Katherine Smith, analyst1,
  16. Antonio Rueda Martin, analyst1,
  17. Alona Sosinsky, analyst1 ,
  18. Ellen M McDonagh, researcher.1,
  19. Razvan Sultana, analyst1,
  20. Michael Mueller, analyst1,
  21. Damian Smedley, researcher1 3,
  22. Adam Toms, researcher1,
  23. Lisa Dinh, researcher1,
  24. Tom Fowler, director of public health1,
  25. Mark Bale, deputy director1 13,
  26. Tim Hubbard, professor1 14,
  27. Augusto Rendon, director of bioinformatics1 12,
  28. Sue Hill, chief scientist10,
  29. Mark J Caulfield, chief scientist13
  30. on behalf of the 100 000 Genomes Project
  1. 1Genomics England, London, UK
  2. 2Guy’s and St Thomas’ NHS Foundation Trust, London, UK
  3. 3William Harvey Research Institute, Queen Mary University of London, UK
  4. 4Institute of Cancer Research, London, UK
  5. 5Great Ormond Street Hospital NHS Trust, London, UK
  6. 6Barts Cancer Institute, Queen Mary University of London
  7. 7St George's University Hospitals NHS Foundation Trust, London, UK
  8. 8University of Exeter, Exeter, UK
  9. 9Oxford BRC Haematology Theme, Oxford Universities NHS Foundation Trust, Oxford, UK
  10. 10NHS England, London, UK
  11. 11Florence Nightingale Faculty of Nursing and Midwifery, King’s College, London, UK
  12. 12University of Cambridge, Cambridge, UK
  13. 13Science Research and Evidence Directorate, Department of Health and Social Care, London, UK
  14. 14Medical and Molecular Genetics, King’s College London
  1. Correspondence to: C Turnbull clare.turnbull{at}

In partnership with NHS England, Genomics England’s ambitious plans to embed genomic medicine into routine patient care are well underway. Clare Turnbull and colleagues discuss its progress

Many disorders we encounter in clinical medicine have a genomic basis, from rare “single gene” disorders such as cystic fibrosis, to complex, polygenic disorders such as ischaemic heart disease, drug toxicity, and tumour evolution driven by serial somatic mutations. Next generation technology has transformed the capacity, speed, and cost of genomic sequencing. This has provided important advances and new opportunities for the clinical application of genomics (fig 1). However, radical expansion of genomic medicine within clinical care requires new infrastructure, extended skills, education of the workforce, and diligent engagement with the public. The Genomics England 100 000 Genomes Project was initiated in 2013 to establish the use of whole genome sequencing in the NHS and drive change within NHS services to adopt this technology.

Fig 1

Potential applications of genomics in medicine

Transforming genomics in UK

The UK has long been at the forefront of discovery in human genomics and is recognised for its world leading genetic research studies, such as UK Biobank and Deciphering Developmental Disorders (fig 2).123 In parallel the UK has evolved a mature network of NHS funded regional genetics laboratories and clinical genetics departments.

Fig 2

Genomics in the UK: timelines of clinical testing and research achievements

Until recently, genomic technologies available in the clinic have enabled us to look for the “causative mutation” just one segment of a gene at a time, limiting both the speed and volume of clinical testing. Over the past decade, next generation sequencing has made it possible to sequence millions of fragments of DNA simultaneously. This step change in scale enables us to offer genetic testing to many more people and test one person for hundreds or thousands …

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