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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28 Clinical OMICs May/June 2019 latory 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. Beyond what is happening in in the U.K., will the NovaSeq be used in a clinical setting? Bentley: I think all of our instruments have worked well in research and previous instruments have gone into a clinical setting through certification, so I think they all work in both settings. It is important to have the research expertise of many people using our instruments and tell- ing us how they work and giving us feedback. The NovaSeq, of course, is not yet in use with the 100,000 Genomes project. That is a consequence perhaps of the accreditation process, locking down a process and really repeating it—that level of standard high-quality delivery is still being done using the HiSeqX, which was designed, built, and released just before the project started. The HiSeqX was very much an instrument developed with whole genomes in mind and that's why it was the instrument pressed into service in 2014 when it came to starting the 100,000 Genomes Project. So that has remained the constant platform though the entire project. Is it too early to consider whether the NovaSeq will transition? Bentley: This year [2018] we have been working to inte- grate the NovaSeq into the 100,000 Genomes project laboratory. This demands both proper evaluation and accreditation of the instrument for clinical use, which every lab has to do. It also involved integrating it into the processes, engineering the software that controls the fleet. It is a gradual process and we're doing this over the year. We do have several instruments in the lab in Hinx- ton [Genomics England's sequencing centre], but it is not producing the 100,000 Genomes—the NovaSeqs are still going through the accreditation process and will be available for use [in 2019]. At that point we'll continue to introduce NovaSeqs into the system so that NHS can benefit from the advantages of the NovaSeq genomes. Can Genomics England serve as a model for other countries that are looking to provide the same kind of service? Bentley: I don't think one model fits all, necessarily. This has been a very good model for the U.K. and the U.K. has provided a number of singular benefits of the NHS structure and how it has been organized, as a national, state-funded system; through to being a relatively small country, very well networked throughout the country and the government professions. [Other advantages are] a relatively small number of decision-makers, a strong history in science as well as medicine, and the opportunity to create the company Genomics England PLC, which was solely dedicated to getting this project off the ground and nothing else. That is an important part of it. I can imagine in any country having a singular focus, who have people become experts in that space, the Genomics England example could be a useful model in any country. It won't necessarily form in the same ways as with Genomics England, but there is always value (continued from previous page) David Bentley began his career as a medical geneticist at Guy's Hospital in London in the 1980s, where he and the staff first diagnosed patients with monogenic conditions. whitemay / iStock / Getty Images

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