How do we make genomics everybody's business?

The Progress Educational Trust (PET) event 'How Do We Make Genomics Everybody's Business?' – the latest in a series of events produced by the charity in partnership with Genomics England, as part of the Genomics Conversation – took place in Manchester on 5 September, during NHS England's Health and Care Innovation Expo.

The discussion concerned the imminent completion of the 100,000 Genomes Project – which is sequencing 100,000 whole genomes from cancer and rare disease patients and their families – and the imminent launch of the new national NHS Genomic Medicine Service (see BioNews 957).

A number of critical questions arise from the implementation of such a service. They surround patient benefits, commercialisation and privacy of data, and maintaining patient trust. PET and Genomics England organised this event to put these questions to the individuals at the forefront of the technology's use and its implementation.

PET's director Sarah Norcross welcomed the audience by reminding us of the words of England's Chief Medical Officer, Professor Dame Sally Davies, who argued in her report Generation Genome that 'we need to maintain patients' and the public's trust and make genomics everyone's business'.

The chair of the event, Genomics England's chief executive Professor John Mattick, reminded the audience of the importance of our genomes in influencing all aspects of our development. He argued that we are approaching a research situation 'to die for' with the combined power of genomic datasets and phenotypic data provided by technology like FitBit. He outlined his belief that genomics will allow us to move to a healthcare system where we intervene before crisis, rather than the reactive model that currently exists.

First to present was Professor Dame Sue Hill, chief scientific officer at NHS England, who gave a fascinating overview of genomic medicine's history in the NHS. Would you believe that the NHS's first genetic counsellor worked at Ormond Street in 1946?

Professor Hill went on to give a thorough overview of the 100,000 Genomes Project's place within the NHS and discussed the practicalities of implementing such a complex feat of science and healthcare. Moving on to the NHS Genomic Medicine Service, she assured us that 'we've thought about all the components and have the infrastructure to deliver'. All of this was woven with a singular theme – the importance of clinicians, patients and researchers working together. For an effective genomic medicine service, everybody needs to be willing to share.

Nalin Thakkar, professor of molecular pathology and genetics at the University of Manchester, then stepped in to give the research perspective of making genomics everybody's business. He emphasised the advances made in genetics research over the course of his career, and developments concerning generic types of consent – 25 years ago nobody thought generic consent would be considered acceptable, but now it is well established and will be critical to genomics research in future. Professor Thakkar also explored the importance of biobanking and said the UK was well placed to create and maintain these resources, which are so vital to genomic medicine and research.

Paul Matthews, head of strategic partnerships at Global Gene Corp, gave a view on the commercial aspects of genomics. He highlighted the potential for genomic medicine to reduce losses – 40-45 percent of the US$1 trillion spent on R&D in drug development is spent on treatments that fail, but his view was that could be mitigated with the use of genomic data. He provided an example: his genomic data, in combination with the software developed by Global Gene Corp, allowed him to gauge his response to warfarin before taking the medication. This highlights the ability of genomic data to prevent negative patient outcomes and reduce wastage.

Vivienne Parry, head of public engagement at Genomics England, closed the evening's presentations with an analogy. She likened the need for the public to understand genomics with their need to understand pensions, and suggested that perhaps the general public does not need to know about genomics unless or until it is specifically important to them. She also highlighted the need for the use of appropriate language when discussing genomics, suggesting that the term 'mutation' be avoided in favour of 'glitch' and that it was unhelpful to talk of 'mining' or 'exploiting' data.

The floor was then opened for audience questions and comments. An audience member raised the point that instead of democratising healthcare, genomics might create a scenario in which there was a higher barrier to entry to research, as sequencing would be a must.

Matthews countered by highlighting the need to speed up failure in drug discovery, and said genomics can facilitate that. Professor Mattick expanded – many drugs fail phase two clinical trials because five to 10 percent of participants respond well, while the rest do not respond at all. It is Professor Mattick's belief that if genomic data for these patients were available, trials specifically targeting their genotypes would be feasible, and thus treatments which would otherwise never get developed would become available.

Continuing in the theme of democratisation and accessibility, concerns were raised that we may one day find ourselves in a two-tier society, where some people have access to genome sequencing and some don't. This feels like a valid concern, given the postcode lotteries that already exist in other areas of healthcare. But speakers were quick to rebut this idea, primarily citing rapidly lowering costs. Matthews highlighted the cost drop from the first whole human genome to be sequenced, which cost billions, to around £1000 for a whole genome sequence now.

Professor Hill suggested that we don't necessarily need whole genome sequencing for everyone in order to drastically improve outcomes, and that we need to properly evaluate the cost-to-value relationship before rushing to sequence the whole population. Personal and touching stories were then offered towards the end of the discussion, when the speakers were asked whether they themselves had had their genomes sequenced.

Professor Mattick revealed that he had, and said the results had shown that he was a carrier for cystic fibrosis. He discovered that his wife was also a carrier for the disease, and suggested that their path to becoming parents would have been different had they known. Meanwhile, Professor Hill revealed that she is currently undergoing treatment for breast cancer, and that she had had both the tumour, and her blood sequenced as part of the 100,000 Genomes Project. When she began working on the project, she never imaged that she would become a participant in it.

Her results revealed that her tumour was 'genomically quiet' – that is, not clearly caused by an obvious mutation. Genomics may not always be able to provide us with straightforward answers, but if the potential of the 100,000 Genomes Project and the Genomic Medicine Service is realised, then there could be substantial benefits for patients, practitioners and researchers alike.

PET is grateful to Genomics England for collaborating on this event

The next free-to-attend PET/Genomics England event will be 'Whose Genome Is It Anyway? Big Data and Your DNA', taking place in Edinburgh on the evening of Wednesday 10 October 2018.

See here for further details, and email sstarr@progress.org.uk to book your free place.

Films of previous PET/Genomics England events can be watched online here.