Clinical OMICS

MAY-JUN 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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Page 28 of 50 May/June 2019 Clinical OMICs 27 Project to provide the reference genome—through tech- nology developments from Solexa and now Illumina— right through to sequencing patients to find mutations to diagnose disease. It is very exciting. It is so powerful being able to diag- nose the cause in an individual who has definitely got a genetic disease when you have no idea at the outset what's wrong. In almost 60 percent of cases, we can actually find out what is wrong. How significant a project is it that the U.K. National Health Service (NHS) is embarking upon? Bentley: I think it's a very bold and courageous move for healthcare for patients and Genomics England. The NHS really took the decisions to evaluate it some 4-5 years ago. The decision making was happening in August 2014, when we signed the contract to do the 100,000 genomes ourselves. The whole 100,000 Genomes Project is a pilot—an ambitious pilot—but it bit off both the chal- lenge of reaching a large number of patients in the NHS who were involved and the challenge of doing the whole genome—going straight for the test that they believed was the long-term future for medical genetics. We took on the challenge of implementing the technol- ogy at scale and continued to develop it. We learned a lot, we continue to learn every time we have a collaboration or an interaction and this was a very strong partnership. This led us to work at scale going up to as many as 7,000 genomes a month, which has been our production. That brought us not only to learning how to make sure we produced a good genome every time, we could tell if something needed a bit more work on it to make it a good genome. But most parts of the genome are being routinely sequenced now, first time out of the gate. A high-quality genome is produced at the end of the pro- cess and sent to Genomics England. Genomics England took on the huge challenge of essentially engaging the country and the various med- ical centres and local hospitals and all the stakehold- ers. They also did a very good job of public outreach, because it was important to engage the public to under- stand, to have some of them come forward. They have had a very strong patient representation as part of the process. Quite a number of the patients have come for- ward and said how much it means to them. As this moves from a pilot phase into a transition phase that needs to provide sequencing at scale, what is Illumina's ongoing commitment? Bentley: Clearly one of the great things about doing the 100,000 Genome Project as a partnership with Genomics England and NHS is that we got to know each other and how systems work. I think that partnership has been critical in facing challenges together and getting to where we are today. Our role (at Illumina) going forward is to continue to refine and optimize and improve the genome sequencing technology. They (Genomics England) will continue to evolve the engagement within the NHS itself, the data management, and the return of results. We've had a chance to work on those roles together and we get to continue to do that, which I think is a very wise move on the part of the NHS. We bring some level of increasing stability as we move into a full clinical test—we are fully ISO accredited, and so are Genomics England so that's an important regu- (continued on next page) A bank of Illumina HiSeqXes fill research space at the Wellcome Sanger Institute in Hinxton, U.K. We bring some level of increasing stability as we move into a full clinical test — we are fully ISO accredited, and so are Genomics England so that's an important regulatory aspect; we certify every genome and continue to work on how best to extract the information and make a difference to patients both in rare disease and in cancer."

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