Genomics: The roadmap to brighter futures
By Integrated Care Journal-
In September 2020, the Government published ‘Genome UK: the future of healthcare’ - its strategy to maintain and advance the United Kingdom’s leading position in genetic and genomic science, research and technology. Since Watson and Crick’s historic discovery of the double helix in 1953, the UK has continuously pioneered genetic and genomic research through the successful execution of programmes such as the 100,000 Genomes Project, delivered by NHS England, Genomics England, and UK Biobank.
When the Covid-19 pandemic struck it was the UK’s pre-existing public health capacities in the field of genomics that enabled the swift creation of the COVID-19 Genomics (COG-UK) Consortium to deliver large-scale, rapid whole-genome virus sequencing to NHS centres and the UK government.
With the publication of the 2020 strategy laying out the Government’s vision to create “the most advanced genomic healthcare ecosystem in the world,” the time was ripe for expert, in-depth insight on how the UK should pursue this ambitious goal.
A leading role
Few are better-suited to provide such insight than Sir John Chrisholm, former Chair of Genomics England. Speaking at a panel during the Public Policy Projects’ (PPP) Annual Conference 2020, Sir John praised and endorsed the Government’s Genome UK strategy, particularly its emphasis on delivering a nationally coordinated approach to the use of genomic data.
Ever-modest, Sir John told the conference’s attendees that future work in genomics in the aftermath of the Covid-19 pandemic would not be done by “people like me, sitting down and writing. ” Instead, the load will be carried by people who mine existing knowledge, bring together insights, ferment these insights in working groups, and distil messages that will ultimately bring the UK closer to being a “global focus” for genomic-based healthcare and industry.
One of the ways by which the UK has already made progress in its leading position in genomics is the massive effort undertaken by COG-UK to sequence the genomes of 22,000 patients who became critically ill with Covid-19 and compare them with the genomes of a further 15,000 Covid-19 positive individuals who were asymptomatic or experienced only mild symptoms. This programme has been crucial to deepening the current limited understanding of why some young people without any pre-existing medical conditions suffer a severe response to the virus.
On the genomics panel with Sir John was Professor Sir Mark Caufiled, Chief Scientist at Genomics England. Sir Mark shared his opinion that this programme was of great importance, not only for its insights into why some people suffer severe Covid symptoms, but also because it could reveal whether there are human factors that will enable sustained immunity to the virus once a person is exposed to it.
Enabling more personalised care
The panellists shared a strong sense of optimism and excitement that an improved understanding of genomics will enable more personalised medicine for patients. For instance, the task of reducing the burden of any inherited disease was historically approached by testing people with a family history of the disease. Professor Julian Barwell, Clinical Lead, Clinical Research Network in East Midlands, however, described to the conference how genomics “opens up the possibility of testing whole populations for subtle gene changes which, when analysed together, can influence risk."
Whereas currently “your genomic code is still only as powerful as your postcode,” a single integrated genomic data ecosystem offers great potential to overcome regional inequalities in healthcare treatment. Julian noted how an integrated data system, namely one bringing together a patient’s records from genomic data and matching these to a personalised treatment, provides the opportunity for machine-based learning to both “improve therapies at [the] individual patient level” and offer better health and disease predictions. In Julian’s words, “it is an equation for life. ”
Professor Gillian Leng, Chief Executive of NICE (National Institute for Health and Care Excellence), echoed Julian’s sentiment, saying that NICE was ready and willing to respond to developments in integrated databases by changing its methodologies.
“As well as NICE doing our own job, we have a responsibility to work with the research community to help us get that evidence base so that we can look at these important new treatments as they come along,” she said.
Pride must not slip into complacency
The UK’s gold standard genomic data, namely the sequencing of whole genomes with each patient’s genomic data linked to their other health data in a fully compliant and consented fashion, should be a source of pride for the UK, said Sarah Rickwood, Vice President, EMA, Thought and Leadership Marketing at IQVIA. However, along with this sense of pride must come a reinvigorated drive to further integrate data systems in order to develop the UK’s potential as a site for the development of clinically relevant data.
Given the urgency the Covid-19 pandemic has placed on all research in the life sciences, the UK must be cautious not to grow complacent in its position as a leading researcher in the field of genomics, nor, as Sarah highlighted, be “complacent in its status as a leading clinical development centre. ”
A report published this year by the Association of the British Pharmaceutical Industry (ABPI) revealed that although the UK ranked third globally for phase one clinical trials and second globally for phase two clinical trials, it has started to “fall back a little” when it comes to phase three efforts. Sarah stressed that these are the ones with the most number of patients and the ones most crucial to a product’s final development and approval. The highly competitive nature of the global market for clinical development means that the UK must be sure to “keep an eye” on any slippage of phase three trials and “ensure that we understand the levers which drive choices around where clinical trials are sited. ”
As we struggle in the throes of a second wave of Covid-19, Professor Julian Barwell’s words serve as a pertinent reminder of where Britain, and the world, should focus its efforts: “We are living in a pandemic. Research is the only answer to new understanding. Everything else is mere stalling. ”
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