AI and the Future of Genomic Healthcare

At the heart of Genomics England, we nurture a vision: a world where everyone benefits from genomic healthcare. This aspiration is expressed in supporting the NHS Genomic Medicine Service, collaborating with a vibrant research community, and launching pioneering moonshot programmes. Our path has consistently emphasised the relationship between science, technology, healthcare and ethics, from the foundational 100,000 Genomes Project to our new initiative exploring the potential improved health outcomes of sequencing newborns, the Generation Study.

Our genome, a rich tapestry of information, gives us a baseline understanding of our health. Through our partnership with the NHS, we’ve 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, we can provide invaluable data that, in the hands of clinicians and researchers, translates into faster diagnoses, more accurate prognoses, and personalised treatment pathways. Moreover, we support research into rare and common diseases, cancer, novel medicines and fundamental science – we partner with both academics and biotech and life sciences in those endeavours.

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.

Enter AI, a game-changer in the field of genomics

As the field of genomic healthcare 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. You cannot overlook its transformative power 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.

In our latest collaboration, we’re proud to have 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.

We as an ecosystem must keep ethics at the centre of everything we do whilst the technology evolves and ensure the public and participants are part of the decisions, we make on whether and how to harness it. The judicious use of data, grounded in choice, fairness, privacy, and empowerment, is paramount. At Genomics England, we pride ourselves on listening, understanding, and innovating responsibly.

As we navigate challenges like data storage, security, and access, our collaboration with tech giants, cloud providers and cyber experts ensures we stay on the cutting edge while safeguarding patient data, guided by and making decisions with our participants and the public.

Insights through the lifetime

Looking ahead, we can see an increasing role for genomics-enabled insights through the lifetime. 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 we know it.

So, as we stand on the brink of this new era, are we optimistic? 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 us.

Learn more about Rich Scott’s vision of AI’s transformative role in the realm of genomic healthcare at Digital Health’s AI and Data event on 30-31 October 2023.


By Chris Wigley, outgoing CEO of Genomics England and Rich Scott, Acting CEO of Genomic England

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