Clinical OMICS

JAN-FEB 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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www.clinicalomics.com January/February 2019 Clinical OMICs 25 by England's NHS. "It was a ridiculously ambitious pilot," said Joanne Hack- ett, chief commercial officer of Genomics England. "At the time, it was extremely expensive for whole-genome sequencing. It took a very long time and that there wasn't anyone doing it at scale." A bit more than a year after its formation, Genom- ics England announced it would partner with sequencing giant Illu- mina as the linchpin of its whole-genome sequencing operation using a combined investment of roughly £300 million, including money provided by the Wellcome Trust to house the sequenc- ing center at the Genome Campus of the Wellcome Trust Sanger Institute, just outside of Cambridge. According to David Bentley, vice president and chief sci- entist at Illumina, the foresight of Genomics England in its structure of the project shouldn't be underestimated. "It bit off both a large number of patients in the NHS and the challenge of doing the whole-genome—going straight for the test which they believed was the long-term future for medical genetics," said Bentley, whose genomic pedigree includes working with Sir John Sulston of the Sanger during the Human Genome Project. "So it was very courageous and it was challenging in many areas." But despite the scale and challenge of the task, it all paid off. In October, the NHS announced it was transitioning from the pilot and would begin offering whole-genome sequencing for anyone suspected of having a rare disease and for certain forms of cancer under its Genomic Medicine Service—by far the largest deployment of a genomic medi- cine service anywhere in the world to date. And in early December, Genomics England leaders announced it achieved its goal 100,000 genomes sequenced by the end of 2018—a monumental leap from its running count that showed only 50,000 genomes had been sequenced as late as February last year. The project got to 100,000 because its sequencing center hit its stride, and is now at a run rate of between 6,000 and 7,000 whole genomes per month. There is plenty of headroom in the number if service demand increases, Bentley noted, as the sequencing operation transitions from the HiSeq instru- ments it is currently using, to the NovaSeq, Illumina's new, faster sequencing platform. Challenges of Clinical Genomes While the first mission of the 100,000 Genome Project was to help develop a working model for delivery of genomic medicine via the NHS, it also included running a paral- (continued on next page) Joanne Hackett, chief commercial officer, Genomics England

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