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The government has launched an implementation plan over the next financial year for its Genome UK strategy.
The strategy, which was published in September 2020, aims to create the world’s most advanced genomic healthcare system in the UK.
Over the 2021-22 financial year, the government will focus on a major drive, led by Genomics England, aiming to improve diversity of genomic data, “addressing the historic under-representation of data from ethnic minority groups in genomic datasets, which results in health inequalities”.
It will also focus on rolling out whole genome sequencing to patients with rare diseases and cancers, with an ambition of sequencing 500,000 genomes in the NHS and 500,000 in UK Biobank.
This is in addition to driving proof of concept work to deliver the first phase of a “next-generation approach for the diagnosis and treatment of cancer, integrating multiple data sources and new technologies to support faster and more comprehensive genomic testing for cancer in line with the NHS Long-Term Plan”.
The government’s Future Health programme, aiming to drive developments in next generation diagnostics and clinical tools, will pilot participant recruitment this year, aiming to eventually reach a five million participant ambition.
The aim of the programme is to collect and link multiple sources of health information, providing researchers with the knowledge to discover new ways to detect and prevent the development of diseases.
The implementation plan also aims to set out to “develop global standards and policies for sharing genomic and related health data”.
The plan includes initiatives in both Scotland and Wales. In Scotland, the government will continue to invest in the development of genomic medicine and research, aiming to adopt a “Four nations approach” to delivery, “alongside seeking the advice and strategic direction from our Scottish Genomics Leadership Group,” the strategy said.
Scotland already has a genomics strategy in place, which the UK government’s implementation plan will build on.
In Wales, the government is actively reviewing its genomics precision medicine strategy for the country.
Launching the plan in the House of Commons, health secretary Matt Hancock said the government wants to “transform the UK into a life sciences superpower”.
“We’ll build on the success story of our life sciences during the pandemic, which has led the world in everything from vaccine development, to finding effective treatments that work, to genomic sequencing,” he said.
“Today we’ve published our Genome UK implementation plan for how we can build on this even further including our commitment to sequence one million whole genomes. Because genomics saves lives, and I’m determined the UK stays at the forefront of this vital new technology.
“If we draw on ingenuity like this, we can keep up the fight against Covid-19, and tackle the other things that stop us living healthier lives such as cancer, dementia and heart disease.
“We’re increasing UK investment in research and development, bringing much more of the supply chain onshore, sparing no effort to attract the brightest innovators and the best manufacturers, and the benefits will be felt in Newquay, Newport, Newry and Newton Mearns.”
Three pillars of genomic success
The government’s Genome UK strategy set out three pillars of work. The first is diagnosed and personalised medicine, where the government plans to incorporate the latest advances in genomics with routine healthcare to improve diagnosis and treatment.
Over the next financial year, the government aims to offer more extensive testing to patients newly diagnosed with cancer, with the aim of having more than 100,000 people a year accessing these tests by 2023.
It also wants to “expand viral genome sequencing and analysis capacity and capability to establish a world leading pathogen genomics system to detect and provide local, regional and national surveillance of infectious threats with strategies to provide this capability within the regional and national health and public health framework”.
The second pillar will see the government focus on prevention through enabling predictive and preventative care to improve public health and wellness and expanding screening in early life and targeted screening, using genomics to improve population health through better screening.
In 2021-22, the government is partnering with Grail to pilot their Galleri blood test, which has the potential of detecting more than 50 types of cancer using high intensity sequencing of circulating tumour DNA.
“Up to 140,000 people between the ages of 50-79 will be involved in the study, which is due to start in mid-2021. Another 25,000 people with possible cancer symptoms will also be offered testing to speed up their diagnosis,” the implementation plan said.
“Results of these studies would be expected by 2023, and if outcomes are positive, then they would be expanded to involve around one million participants across 2024 and 2025.”
The third pillar is to support research and ensure a “seamless interface” between research and healthcare delivery, including focusing on data to support innovation and ensuring diversity and equity of access.
The government aims to make the UK Biobank Research Analysis Platform, a cloud-based research platform funded by the Wellcome Trust, available for researchers to use from the third quarter of this financial year.
“They will be able to appropriately access whole genome sequencing data through the platform on about 200,000 participants in Q4 2021, and the whole genome sequence data on all 500,000 participants will be made securely available during 2022. This will enable study of the impact of genetic variation on disease in unprecedented detail and scale,” the plan said.
The European Bioinformatics Institute will also lead research into the genetics of symptom severity in Covid-19 infections, a project funded through UK Research and Innovation (UKRI).
Over the next year, Genomics England will aim to develop a next-generation trusted research environment to provide authorised access to genomic data and “other linked data to researchers from across the sector (subject to patient consent, confidentiality and relevant data protection provisions)”.
Several government bodies, including NHSX, the Office for Live Sciences and UKRI, will also continue to build the investment case for building a federated data infrastructure for genomics data, and NHSX will also engage with genomic incubators, research and development initiatives and startups.
Innovation minister James Bethell said the country has a “proud history in developing genetic and genomic technologies, which improve the lives of patients across the country and globally”.
“This implementation plan demonstrates the great strides we have already made since the launch of Genome UK and outlines the actions we are taking to progress key commitments over the next year,” he said. “It is vital that we continue to maintain and develop our global leadership in this field to realise the full potential offered by genomics.”
Read more about genome sequencing
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- Genome UK strategy sets out plans to harness technological and science advances to create the ‘world’s most advanced genomic healthcare system’.