The UK is a leading nation in genomics, with the 10 Year Health Plan outlining a major shift towards a population-wide genomic health service. This strategy could deliver savings and improved patient outcomes for the NHS – but critical to its success is the data that underpins it. Here, Dr Peter Freeman outlines why policymakers should adopt new international standards in recording and sharing genetic data, and why this is essential to the UK’s continued success in the field.

• Genomics-informed healthcare is a lynchpin of the 10 Year Health Plan, with the potential to deliver personalised medicine for every NHS patient.
• However, new research shows that endemic misreporting of genetic data, alongside fragmented NHS databases, risks undermining the UK’s leadership.
• Adopting new international standards – and creating a single national infrastructure for reporting of genetic sequences – will reduce costs and improve patient outcomes.

As global competition and strategic investment in large-scale genomic programmes accelerates, the UK’s ability to benchmark its performance and guide industrial strategy now depends on the quality, consistency and international comparability of its genomics data.

For the Department of Health and Social Care (DHSC), genomic-led personalised care forms one of the five “Big Bets” of the 10 Year Health Plan. Undiagnosed rare diseases – often genetically inherited – cost the NHS around £3.4 billion between 2008 – 2018. A shift to a comprehensive genomic screening service would reduce this cost through earlier diagnosis, building on the ambitions of the 5-year Rare Diseases Framework. Beyond healthcare, the Office for Life Sciences (OLS) and the Department for Science, Innovation & Technology (DSIT), need reliable foundations for the indicators underpinning policy – economic metrics, adoption measures, R&D investment patterns, and the comparative performance of the UK’s genomics sector.

Yet one of the most fundamental weaknesses in genomics data remains largely unrecognised in policy discussions: widespread inaccuracy and inconsistency of data in genomics databases and literature. The Human Genome Organization (HUGO) has highlighted the widespread failure to adhere to clinical standards for genomic data in manuscripts submitted to leading journals and clinical databases. A series of studies involving The University of Manchester revealed the persistent and universal nature of these errors which, if corrected, will directly improve clinical diagnosis. The most recent investigation showed that, despite the availability of tools to correct errors, clinical literature and databases continue to receive inaccurate and incomplete data.

This problem has profound implications for the UK’s ability to generate trustworthy indicators, compare its performance internationally, and develop evidence-based health policy. Variants misnamed in publications or databases cannot be linked across datasets, feed reliably into analyses, or support the economic and clinical insights required by government.

Crucially, accurate databases are a vital component of the 10 Year Plan’s shift towards a genomics-based health service. A clinician cannot provide an accurate diagnosis of a genetic disease or risk-factor without being able to search for evidence  relating to that variant. Additionally, globally accepted diagnostics standards state that misnamed data should be treated as less trustworthy. The result is an unstable data ecosystem that undermines the UK’s ambition to produce world-class evidence for policy and healthcare.

A new standard

In response, an international coalition has been formed to deliver a new global professional-standard. The consortium includes two organisations which will ensure the standard is directly embedded into UK healthcare and research practice; the Association for Clinical Genomic Sciences (ACGS), the operational backbone of NHS genome interpretation; and the European Molecular Genetics Quality Network (EMQN), standards and quality schemes directly govern UK diagnostic laboratory performance. Their involvement guarantees that the final standard will be implemented across the NHS – but the gauntlet laid down for policymakers is how quickly this happens.

This moment matters profoundly for UK policy. The Government’s evidence sources provide vital insights into employment, turnover, investment flows, and international rankings in biosciences and health technology, and life sciences competitiveness. But the genomics sector now requires deeper, more granular indicators: measures of genomic R&D intensity, the true pipeline of genomics-based innovations, NHS adoption rates, regulatory timelines specific to genomics, and the economic contribution of precision medicine. None of these indicators can be reliably produced without consistent genomic variant data. The UK cannot comprehensively assess its competitive position, nor the return on investment in genomics, if the underlying genetic data is internationally incompatible.

A rapid move to align national genomic datasets, NHS reporting pipelines, research publications and regulatory evidence with the international standard would increase the reliability and comparability of the UK’s genomics indicators. It would strengthen the evidence base used by DSIT to shape genomics policy, enhance OLS’s ability to analyse sectoral performance, and allow the UK to benchmark accurately against global competitors. It would also support regulatory reform by enabling the MHRA, NIHR and NHS England to make decisions based on consistent, technically robust genomic evidence.

More broadly, adopting the standard early would reinforce the UK’s status as a scientifically serious and internationally aligned genomics nation. It would support the expansion of genomic manufacturing and R&D capabilities and help attract investment into UK genomic facilities by reducing uncertainty around data quality and regulatory expectations. For industry, it would create a predictable, high-quality environment for innovation. And for the NHS, it would mean more accurate genomic reports, higher diagnostic yields and more efficient use of genomic testing capacity, supporting the aims of the 10 Year Plan.

Building data sharing and reanalysis into health policy

Accurate data is the keystone to building an effective genomic health service, but it is not the only piece of the puzzle. Currently, genomic data within the NHS is not routinely shared between Trusts, while Genomics England also maintains its own database. The UK’s fragmented approach to data sharing risks falling behind emerging leaders like Brazil, where a new genomics service – based on Genomics England – seeks to go further in building a federated service, improving progress in precision medicine for its diverse population. The ‘analogue to digital’ focus of the 10 Year Plan – alongside the new standards for recording data and a government ambition to become a global leader in clinical trials – presents an opportunity to harmonise data collection and sharing in UK healthcare. DHSC, DSIT, and OLS should jointly lead on the creation of a standard format for genomic data reporting.

The new standard presents a further opportunity to learn from international best-practice. Brazil intends to operate a national reanalysis service, providing diagnoses and treatment to patients with previously undiagnosed genetic diseases. UK policymakers should adopt this ahead of the rollout of the full genomics health service in 2035, to ensure that the health and economic burdens of undiagnosed illness are reduced as soon as possible.

The release of the new standard offers a strategic moment for the UK to rebuild its genomic data foundations. By embedding internationally harmonised variant reporting and data sharing across research, clinical practice, policy datasets and regulatory evidence, the UK can strengthen its global competitiveness, support the development of new and more sophisticated genomics indicators, and ensure that DSIT and OLS have the robust, high-quality data required to shape the next decade of life sciences policy.

If the UK wishes to remain at the forefront of genomics, the accuracy, consistency and availability of its data must be considered a national strategic asset. The science is ready, the professional societies have acted, and the policy window is open. The next move belongs to government.