In September 2021, to mark the first anniversary of the Deloitte Life Sciences Catalyst, we were privileged to attend an insightful hybrid webinar on The Future of Genomics.1 The webinar, chaired by Deloitte partner Mike Standing, was introduced by Frances Cousins who leads the Catalyst, and featured the following esteemed panellists: Professor Dame Sue Hill (Chief Scientific Officer for England), Dr David Bentley (Chief Scientific Officer of Illumina), Dr David Atkins (Chief Executive Officer of Congenica), Dr Julia Wilson (Associate Director, Wellcome Sanger Institute) and Chris Cowles (Partner, Withers Bergman LLP). This week’s blog shares our key take-aways from their fascinating discussion and explores and how genomics is transforming healthcare, and the value and power of a collaborative life sciences ecosystem to the UK and beyond.
The role of genomic sequencing in transforming healthcare
The human genome contains an individual’s unique pattern of 3.2 billion DNA letters (or bases).2 The UK’s long history of advances in studying the human genome has enabled genomics to emerge as a transformational diagnostic tool. Crucially, performing whole genome sequencing (WGS) has provided a vital understanding of diseases and helped identify potential treatments for complex conditions such as rare genetic diseases, cancers, and infectious diseases, including variants.
WGS involves extracting DNA from a small sample of blood (around 5-10 mL) or tissue and using a sequencing instrument, to ‘read the DNA’ in many small sections (termed reads). Software is then used to match these segments to a reference genome. While everyone’s genome has millions of differences to this reference genome, software can help detect variants which could cause specific diseases. Technological advancements have resulted in WGS and its associated analysis now being conducted within 2 days at a cost of around £1,000, a drastic reduction compared to the 13 years and £2 billion it originally required.3
The UK is a world leader in whole genome sequencing
The UK has positioned itself as a world leader in genomics, both in terms of strategic intent and scientific expertise. A large contributor to this success is the scale of investment and support over several decades. A key driver was the landmark 100,000 Genomes Project, which was announced in 2012 and led to the inception of Genomics England and, with the support of the NHS, the WGS of over 70,000 patients and family members by the end of 2018.4 In 2018, the NHS launched the NHS Genomic Medicine Service, building on the 100,000 Genomes Project and the decades of genetic testing within the NHS. The premise being that genomic and other care data, when appropriately consented, would be used to create a research and innovation ecosystem in partnership with Genomics England and industry. Consequently, the NHS has become the first national healthcare provider in the world to routinely offer WGS to patients, and now aims to sequence half a million human genomes by 2023-24.5 6
Importantly, the UK also has a leading role in sequencing the SARS-CoV-2 virus, identifying and tracking the pathogen and its mutations as they emerge. Initially overseen by the COVID-19 Genomics Consortium UK (COG-UK), between April and December 2020 the responsibility and funding for genome sequencing of pathogens was transferred to NHS Test and Trace at the beginning of 2021. During 2021 an exponential expansion in capacity meant that, by February 2022, the UK had surpassed two million SARS-COV-2 genome sequences uploaded to the international Global Initiative on Sharing Avian Influenza Data (GISAID) database, around a quarter of all samples uploaded from across the world.7 Now part of the new UK Health Security Agency, NHS Test and Trace continues to develop the UK’s WGS capabilities. The crucial role of both human and pathogen genomics as a public health protection tool is described in detail in the Centre for Health Solution’s recent report Bridging the gap: Protecting the nation from public health threats.
The benefits of WGS to patients and the wider healthcare systems
WGS has already seen many successes and achievements in the UK, including:
Understanding the nature of cancer – by comparing sequences from tumours, healthy tissue and germline, scientists have gained new insights into the nature of cancers and improved their understanding of which treatments may be most effective and which may needlessly harm the patient.8
More accurate and rapid rare disease diagnosis enabling focused care – for individuals with rare diseases finding the correct diagnosis can take several years. A pilot study published in November 2021 reported that WGS led to a new diagnosis being obtained for 25 per cent of the 4,660 study participants, 14 per cent of which would have not been detected by other non-whole genomic methods.9 Patient cases from this study highlight the ability of this technology to transform lives by enabling the correct (often life-saving) treatment to be selected, in addition to the long term resource benefits associated with decreased hospital appointments, tests and admissions.
Surveillance of infectious disease pathogens at scale –WGS has been used to track infectious disease outbreaks, for example to identify clusters in hospitals, for drug-resistant tuberculosis (TB) surveillance and, of course, COVID-19 surveillance.
Creating value and optimising new business opportunities in the future
With the potential for 125 million or more genomes to be sequenced within the next five years, there is a need to continue to improve the cost, quality, and accuracy of sequencing in order to create an accessible ecosystem that is sustainable and fit for the future. This requires a shared vision and understanding of the value of genomics to individuals and for stakeholders from across the genomics and WGS innovation and implementation ecosystem to collaborate to address the following obstacles identified by the panellists:
there is a lack of diversity within the current genomics WGS dataset which needs to be tackled overtly to optimise the interpretative capability in the future
a clear challenge of WGS is the extreme data storage requirements – the 100,000 genomes project alone collected 21 petabytes of data (21,000,000 gigabytes)10, innovation is therefore required to reduce the costs and infrastructure requirements for data storage
advances in data analysis and instrumentation are needed to reduce the cost of sequencing, enabling it to become more widely accessible without compromising on quality
the lack of an international policy on data sharing needs to be resolved enabling innovations around interoperability and data sharing (that comply with regulatory requirements) to be adopted at scale
there is currently insufficient capacity and capability available for effective interpretation of sequencing, which is a major limiting factor when scaling up WGS services, and which can be improved through automation
there is a need to improve and coordinate public and patient dialogue on the use of genomics and to ensure healthcare professionals are adequately trained in understanding and communicating the results of tests to patients and families
the evolving complexity of the marketplace has led to a complex system of intellectual property (IP) rights, requiring early dialogue with patent attorneys
there is a need to ensure that quality and regulatory requirements are met, and data is shared safely within global standards.
There are numerous opportunities for WGS to transform healthcare. For example, by expanding the pathogen surveillance implemented during the pandemic to seasonal flu, new vaccines based on genomics can be developed; and by understanding the role of the genome in drug efficacy. There is also the potential for huge advancements in innovation to develop new targeted treatments and personalised medicines for a wide range of previously untreatable conditions. Furthermore, by combining WGS with clinical data and longitudinal data (such as the UK biobank) and using new AI-enabled technologies to turn these data into actionable insights, the power of WGS could be greatly enhanced.
The UK is currently at the centre of the ‘golden age’ of genomics. By continuing to develop and harness partnerships between multiple organisations across the life sciences ecosystem and build on the successes achieved to date, the value of WGS for the UK can be sustained and improved on, benefitting, science, patients and the economy.
About the Deloitte Life Science Catalyst: The Life Sciences Catalyst was developed through our industry insights and deep relationships across the local and global ecosystem and exists to solve the business challenges that keep life sciences leaders and innovators up at night. It offers a collaborative platform for growing biotech and MedTech companies and prospective investors to come together to tackle the big challenges facing the industry. It combines the best business leaders and Life Sciences expertise with the local and global capabilities of Deloitte to generate business growth in the UK.