Professor Rich Scott
Chief Executive Officer of Genomics England
Genomic data is helping to identify eligible patients for groundbreaking treatments, with real opportunity to scale this for wider benefit.
We’re in a golden age of medical innovation — but not access. Breakthroughs in genomics, artificial intelligence, rapid sequencing and next‑generation editing tools mean we can now design therapies that target the root genetic cause of disease to help anticipate and prevent illness. Yet, too many patients with rare conditions who might benefit from these therapies never get the chance.
Eligibility based on biology
Matching the right patient to the right trial relies on fragmented data, strict eligibility criteria and inconsistent clinical awareness. These barriers create delays and inequity. Eligibility can depend more on where a patient lives or which clinician they see, rather than the underlying biology that could make them an excellent fit.
Eligibility based on biology could mean early access to treatments that could improve, extend or save lives. Rare conditions have also been publicly acknowledged by pharmaceutical and biotech companies as an “immense field of new opportunities,” with medicines only available for about 5% of rare conditions.1
Another global biotech firm has also recently established a clinical trial
site in the UK to treat a rare genetic disorder,
Delivering new therapies to patients in need
In genomic medicine, we are seeing a shift from discovery into delivery. Genomics England’s National Genomic Research Library (NGRL) has already helped identify eligible patients for a major pharmaceutical company’s first gene therapy trial, supporting investment in a UK trial site. Another global biotech firm has also recently established a clinical trial site in the UK to treat a rare genetic disorder, again driven by patient identification through Genomics England’s NGRL.
These examples point to a bigger opportunity. The UK is already a global genomics leader and is uniquely positioned to identify patients at scale, link genomic data to clinical care and help companies move from discovery into trials faster. This is the difference between great science and delivering new therapies to people who need them.
Development, testing and accessibility in the UK
If we scale this approach, the UK can become the place where genomic and rare conditions therapies are consistently developed, tested and accessed, creating greater real‑world impact for patients.
[1] Adeoye, A. 2026. AstraZeneca highlights rare diseases in $80bn revenue push. Financial Times. https://tinyurl.com/dvnn9r5p
