AI and the Future of Genomic Healthcare: Insights from Genomics England
Exploring the Synergy Between Artificial Intelligence and Genomics for Enhanced Patient Care and Research
At the heart of Genomics England, a vision is nurtured: a world where everyone benefits from genomic healthcare. This aspiration is expressed through support for the NHS Genomic Medicine Service, collaboration with a vibrant research community, and the launch of pioneering moonshot programmes. The path of Genomics England has consistently emphasised the relationship between science, technology, healthcare, and ethics, from the foundational 100,000 Genomes Project to a new initiative exploring the potential improved health outcomes of sequencing newborns, known as the Generation Study.
The genome, a rich tapestry of information, provides a baseline understanding of health. Through a partnership with the NHS, Genomics England has been striving to harness these insights for the benefit of patients, particularly those grappling with rare diseases and cancer. By sequencing and analysing these genomes, invaluable data can be provided that, in the hands of clinicians and researchers, translates into faster diagnoses, more accurate prognoses, and personalised treatment pathways. Moreover, support is extended to research into rare and common diseases, cancer, novel medicines, and fundamental science, partnering with both academics and entities in biotech and life sciences.
All of this is done hand in hand with the patients and participants served – they are the reason Genomics England exists, and the motivation for its daily operations.
All of this we do hand in hand with the patients and participants we serve – they are the reason we exist, and the motivation for getting out of bed each morning.
As the field of genomics grows at a staggering pace, AI is fast becoming a cornerstone. From ground-breaking developments like AlphaFold2, which seeks patterns in colossal datasets, to efficiently managing data, such as de-identifying pathology reports and classifying phenotypic data. The transformative power of AI in data management, clinical decision support, where it helps to prioritise variants for diagnosis, and in genetic counselling, where scalable AI interfaces bridge the understanding gap for patients and their families, cannot be overlooked.
In the latest collaboration, Genomics England supported the validation of DeepMind’s AlphaMissense research, which brings promise to unlock further secrets of the genome speeding up research and diagnosis for rare diseases.
The future looks promising. Investment, like the UK government's recent £21 million funding to expand AI across NHS Trusts, is vital. The continually declining cost of genome sequencing, combined with the NHS's vast longitudinal health data, places the UK at the helm of this AI-driven revolution in healthcare. The challenge is often system change in one that is already so overstretched, which is why additional funding is so welcome.
Home to a thriving ecosystem of over 154 genomic companies, the UK has a leadership opportunity, echoing its historical achievements from the discovery of penicillin to the intricate structure of DNA.
The ecosystem must keep ethics at the centre of everything it does whilst the technology evolves and ensure the public and participants are part of the decisions made on whether and how to harness it. The judicious use of data, grounded in choice, fairness, privacy, and empowerment, is paramount. At Genomics England, pride is taken in listening, understanding, and innovating responsibly.
As challenges like data storage, security, and access are navigated, collaboration with tech giants, cloud providers, and cyber experts ensures staying on the cutting edge while safeguarding patient data, guided by and making decisions with participants and the public.
Looking ahead, an increasing role for genomics-enabled insights through the lifetime can be seen. The collaboration between AI and genomics holds the promise of a transformed healthcare landscape. The horizon, however, extends beyond just genomics. AI's potential touches upon clinical trials, drug development, and myriad clinical decision-making tools, poised to revolutionise healthcare as it is known.
So, standing on the brink of this new era, is there optimism? Absolutely. With the infrastructure, robust datasets, and innovative applications, coupled with training, lifelong learning, and maintaining a continuous dialogue with the research participants and the public, a brighter, more informed healthcare future awaits.
Learn more about Rich Scott’s vision of AI’s transformative role in the realm of genomic medicine at Digital Health’s AI and Data event on 30-31 October 2023.