Genetics

Completion of 100k Genome Project in doubt

With more than 63,000 genomes still to sequence, the largest project of its kind is still only just over a third of the way through its target workload. But the goal of launching an NHS genomics medicines service nevertheless remains within reach.

john bell life science oxford university 17

Source: Courtesy, University of Oxford

John Bell, regius professor of medicine at the University of Oxford and author of the recently published ‘Life sciences industrial strategy’ who gave evidence to the House of Commons Science and Technology Select Committee said the UK sequences more genomes than anywhere in the world but that data analytics was a “very, very big problem”

Doubts have been raised over whether the 100,000 Genome Project will be completed by the target date.

Speaking at a recent House of Commons Science and Technology Select Committee meeting, chair Norman Lamb, highlighted that it could take until July 2020 for the 100,000 target to be reached. 

Sequencing is due to be completed by the end of 2018, but on 1 November 2017 the committee heard that there were still more than 63,000 genomes to sequence.

“As I understand it, at the beginning of October this year there had been 36,083 genomes sequenced, and the suggestion is that at the current rate of progress it would take until July 2020 before you got to the 100,000, — is that still going to happen or will we end up doing fewer than the 100,000?” asked Lamb. 

Addressing the concerns, chief medical officer, Sue Hill told the committee that her understanding was that the project continues at pace and the plan is still to complete within the financial year 2018–2019. 

The 100,000 Genome Project was launched by then prime minister, David Cameron, in late 2012 with the aim of sequencing 100,000 genomes by 2017, although the deadline was later extended until the end of 2018. The 100,000 Genomes Project is one of the largest national sequencing projects of its kind in the world and is focused primarily on two therapeutic areas: cancer and rare diseases.

Hill said the NHS will cease its commitment to provide samples to the Project by September 2018 and, for rare diseases, samples will stop being sent even earlier.

Although it is not clear what will happen to the Project after this time, Hill said an NHS genomic medicines service would be launched, which would see a set of genomic laboratory hubs being introduced. She added that the service will be delivered against a new genomic test directory, which will help determine which genetic tests are appropriate for which conditions.

“Whole-genome sequencing [will be] introduced for NHS patients for some conditions”, said Hill.

“All genetic tests will be able to be ordered electronically and go through an approval process by the lab so that the right person gets the right test,” she added.

She explained that evidence from the new service will be constantly reviewed to identify which traditional diagnostic tests can be dropped as progress is made with genomic medicine.

“As we move forward we will have an established expert group to review all technologies and look at the whole testing repertoire,” she said.

In addition, she said that a new data warehouse will be created to hold all sequencing data generated in the NHS enabling it to be linked, with patient consent, to a research database to help drive drug discovery.

Also asked to provide evidence was John Bell, regius professor of medicine at the University of Oxford and author of the recently published ‘’.

When asked what was the biggest challenge facing the NHS as it moves towards genomic medicine, Bell said that data analytics was a “very, very big problem”.

“The UK sequences more genomes than anywhere else in the world and are multiple years ahead of other countries in terms of handling genomic data … but there are terabytes of data to be stored and analysed,” he said.

“A few years ago I would have said that integration into the NHS would be the biggest problem … not anymore.

“The NHS has embraced genomics more than other health services,” he added.

Other questions raised by the committee centred on preparing the NHS workforce, funding, regulation and the ethical implications of genomic medicine.

Citation: The Salvadore DOI: 10.1211/PJ.2017.20203860

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  • Dna analysis by polymerase chain reaction
  • john bell life science oxford university 17

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