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Feature Genetic Research

The 100 000 Genomes Project

BMJ 2016; 353 doi: (Published 13 April 2016) Cite this as: BMJ 2016;353:i1757
  1. Mark Peplow, freelance journalist, Cambridge
  1. peplowscience{at}

Part research project, part commercial stimulus, this enormous sequencing programme could usher genomic medicine into mainstream use, Mark Peplow reports

Nobody could deny that Mark Caulfield, chief scientist of Genomics England, has a bold vision. “This will bring genomic medicine across the healthcare system,” he enthuses. “It is, in essence, an NHS transformation programme.”

He’s talking about England’s 100 000 Genomes Project, which is now ramping up into high gear. Overseen by Genomics England, it is one of the biggest whole genome sequencing projects in the world. And it is working to a breathtaking timetable: most of these genomes will be sequenced by the end of next year.

The genetic material will come from patients with rare diseases or common cancers and their families (box 1). By identifying any genetic anomalies, and linking them to participants’ medical histories for the rest of their lives, the project aims to build up a unique database for treatment and research. “It will allow us to find things in the data that we might not notice in ordinary clinical care,” says Caulfield. That should offer better diagnoses and more targeted therapies. It also gives scientists a treasure trove of information that could help to develop more effective drugs.

Box 1: The road to 100 000 genomes

  • Roughly 25 000 cancer patients will each contribute two genomes: their own and that of their tumour

  • About 17 000 people with rare diseases, plus two blood relatives of each patient, will add another 50 000 genomes

  • The project is also sequencing genomes from a smaller number of patients with severe infections

That remit is impressive enough. But the project’s broader goals are to kickstart a national genomics industry and make the UK the first country to routinely use DNA sequencing in mainstream healthcare. “If we get this right, our ambition is to see new treatments, new diagnostics, coming to …

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