The UK Genomics Revolution: The Age of Big Data and AI

Kristian Gurashi Written by Kristian Gurashi
Published on 09 February 2022
9 min. read

The UK Genomics market and its growth over time

Genomics, the branch of science which investigates the genome, has experienced incredible growth over the past few years.

In the UK, the fast-paced development of this market started after the establishment of Genomics England in 2012, which is a government-owned organisation running the National Genomic Research Library. This includes over 100,000 whole genomes from patients affected by rare diseases and cancers1. The foundation of Genomics England preceded a flurry of public and private investment into this space, which ultimately led to the establishment of multiple public-private partnerships such as the Open Targets Consortium. This platform aims to help researchers identify therapeutic targets, and was founded in 2014 thanks to the collaboration of the EMBL-EBI, the Wellcome Sanger Institute, and GSK.

In parallel, numerous private genomics companies bloomed over the years; 154 solely in the UK, mostly located in Cambridge, London, and Oxford2. These companies have contributed to the development of cutting-edge technologies with real-world applications, and together with public genomics institutions, define a market worth £5 billion, collecting 34% of all investments in the UK life sciences sector. The UK Genomics market is forecast to grow by 20% in the next 5-10 years according to a report by Deloitte in 20153.

With both private and public efforts contributing to the development of innovations in the life science sector, let’s analyse how genomics data-driven companies are practically impacting this sector.

The impact and practical implementations of genomic data-driven companies in health care

The development of new genomic technologies and applications has, overall, affected and improved a variety of areas. This mainly includes disease prevention, patient screening, diagnostic and risk stratification, R&D drug discovery, and treatment response. Coupled with artificial intelligence (AI) algorithms, these technologies result in improved disease management, better treatments, and precision medicine.

The recent developments and investments in high-throughput genomics platforms, such as 10x Genomics, provide UK drug developers and clinical researchers the means to drive more precise and efficient drug discovery.

But how do Genomics data impact drug discovery? This was concisely explained by Adrian Ibrahim, Wellcome Sanger Institute Head of Technology Transfer and BD. Adrian argued that improvements in Genomics help manufacturers access increased yield of data, which are computed and interpreted for target identification and target prioritisation4. The increased accessibility to large-scale genomics data comes at the expense of increasing difficulty in the analysis and interpretation of the data, often seeing the requirement for the application of
AI and machine learning pipelines. 

To address this issue, pharmaceutical companies are partnering up with big tech to adopt advanced computational strategies. Examples are Pfizer, which currently uses a machine learning system developed by IBM named ‘Watson’ for the discovery of cancer drug targets5.

Data-driven biotechs are also contributing to the drug discovery market by introducing new multi-omic-based technologies. In the UK, a successful example is Healx. This company, founded in 2014 in Cambridge, designed the Healnet platform which predicts drug response on rare diseases. The platform relies on the use of cutting-edge AI algorithms that analyse how diseases function and compare it to a comprehensive database for rare diseases. The system then looks upon a database of existing compounds looking at their mechanistic functions in the body. Finally, the algorithm compares all the above information to match
existing compounds to the diseases. The platform is hypothesis-free and human-bias-free, promoting the identification of targets not been previously linked to the disease6.

The use of AI in Genomics is not restricted to the identification of candidate therapeutic targets, as underlined by Dr. Steve Gardner, CEO of Precisionlife, a UK-based company founded in 2015. Gardner adds that the implementation of a multi-omic approach could also promote understanding of the genetic complexity underlying diseases7. Following this belief, Precisionlife built multi-omic patient population datasets, including genomic, phenotypic, and clinical data, into disease maps, providing a deep understanding of mechanics for complex diseases such as chronic diseases and potentially facilitating improved patients risk stratification and better patient cohort subgrouping. 

Other successful examples of UK-based genomics companies leveraging health data to stratify patients include Genomics plc and Saphetor. The success of Genomics plc, founded in 2014 by Oxford academics, is highlighted by having raised $100 million in only two funding round. The company focuses on tools for disease prevention, early diagnosis, clinical decision support, and drug discovery with the use of AI and data science. Saphetor has developed the platform VarSome, enabling the identification of the pathogenicity of genomic variants in diseases, establishing a causative effect, and promoting improved patient stratification. This company has most recently obtained an investment of £7 million. 

Genomics research and data-driven companies and public health: a rapport of mutual interests. View and current limitations in establishing acceleration of applications.

The contribution of this industry has a direct and relevant impact on healthcare, constantly redefining the work practice. This has been well observed by Lord David Prior, Chair of NHS England, who said:

“Genomic technologies have the power to transform patients’ lives by providing early diagnosis and personalised treatments”.

In a recent account, David commented on the UK government’s Life Sciences Vision policy:

“The use of data-driven life sciences technologies is central to the UK government’s Life Sciences Vision. We foresee an NHS where research is embedded as a core part of effective patient care to deliver our goal
of a digitally enabled and pro-innovation clinical research environment”.

Backing this vision, the NHS successfully trailed the implementation of a state-of-art data management system for covid-19 patients’ data named Palantir Foundry, a platform that allows for cleaning and integration of data into user-friendly operating pictures. In parallel, the UK government also worked with Lifebit to improve data management and accessibility for covid-19 patients. Lifebit, a company launched in London in 2017, provides tools for improved patient data storage and accessibility to both clinicians and public and private researchers. Overall, the implementation of automated and improved patients’ data
management systems for covid-19 patients in the NHS proved successful in accelerating the discovery of the vaccine, treatment, and early-diagnostic tools.

Limitations and challenges in the growth of the UK Genomics market

Current limitations and challenges observed in the development of UK genomics and data- riven companies include limited communication between the NHS and private companies leading to slow-paced technological integrations; the need for updated regulations allowing for agile work frames while promoting patients’ privacy; rules on inventorship and patenting in AI; limited funding and support to early/mid-stage projects. 

The difficulties in the integration of newly founded genomics tools into the NHS were nicely summarised by Adrian Ibrahim, who suggested that in order to maximise the medical potential of genomics, a requirement for improved coordination in between the NHS, the translation academic work, and the small and large companies is needed 4 . To help achieve this target, the UK government has introduced the new regulatory framework, ‘Software and AI as a Medical Device (SaMD) Change Programme’8. This aim is to provide a high degree of privacy protection for the patients while promoting the implantation of AI-based
medical device software.

In spite of the benefits that this new regulatory framework provides for genomics and data-driven companies, it fails to address another persistent challenge these companies face; the ability to protect their intellectual property (IP) and to patent AI-based inventions. Currently, inventions patenting in the UK do not include code and AI-based inventions. This represents an important limitation for data science-based companies, which now require legislation loopholes for the effective patenting of their products. Since the UK is leaving the
European Union (EU), it may be now necessary to revise patenting criteria in the country.

The relevance of UK big data biotech companies within the life science sector is highlighted by how these companies raised £2.8 billion in 2020 only. However, funding challenges still remain in place for early-stage companies. Barbara Domayne-Hayman, KQ Lab founder and Francis Crick Institute Entrepreneur in Residence, argues that tech and biotech investors are not comfortable with the data and business models of emerging and developing companies, and with the slow pace of the industry. As a result, investors wait for companies to have a
feeling of success through revenues or pharma collaborations. To help small biotechs tackle and improve their business model and kick-start their companies, various support and acceleration programs have been established in the UK. It is imperative that these programs provide young companies, particularly in this space, guidance and direction to traverse the difficulties discussed above. This is something that the Innovation Forum (IF) strives towards, as it targets the most vulnerable of early ventures; those that have just been created. IF’s track record includes both Lifebit and Healx, which are prominent players in the genomics/informatics field, demonstrating its value to young companies working in this area of science.

The Innovation Forum is a global grassroots network of students, researchers,
entrepreneurs, and professionals who aim to drive innovation in science and technology forwards by connecting academics, private companies and investors. We support our local innovation ecosystem by organising events, networking sessions and through our IMAGINE IF! programme; an accelerator and mentoring program for science ventures. 

Are you interested in joining our future events?

Would you like to showcase your business or become a member of our friendly IF Manchester team?

Please contact Naseer Basma or get in touch through one of our various social media platforms.

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Don’t miss our next event ‘Decoding the Human Genome Using Big Data and AI’ in Manchester in March 2022! We will be discussing current and future directions for Next-Gen Sequencing, AI in genomics, and personalized medicine. Stay updated on future announcements related to this event by following us on our social media channels. 


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