Beyond the helix: will the NHS Ten-Year Plan deliver for people with rare genetic conditions?

When UK Prime Minister Keir Starmer and UK health secretary Wes Streeting launched Fit for the Future: Ten-Year Health Plan for England, it was clear that the government wanted us to see this document as a vision for a modern, science-led and tech-driven NHS. The front cover – featuring a bright, sparkling DNA double helix – not-so-subtly underscored the Plan's ambition for a modern healthcare service with genomics at its core. Genetic Alliance UK has been reviewing this 168-page document, to understand what the Plan means for the 3.5 million people living with genetic, rare, and undiagnosed conditions in the UK.

Genomics at the heart of the NHS

Genetic Alliance UK welcomes the NHS ten-Year Plan's bold commitment to embedding genomic medicine into routine clinical care. This strategic shift recognises the profound potential of genomics to revolutionise how we understand, diagnose, and treat many conditions.

Central to the vision is the establishment of a new 'genomics population health service', designed to integrate genomics more seamlessly across the healthcare system. This includes proposals for a unified genomic record, which promises to consolidate vital patient data, facilitating more comprehensive and personalised care pathways. The emphasis on pharmacogenomics, tailoring drug treatments based on an individual's genetic makeup, holds great promise for optimising therapies and minimising adverse reactions, a significant benefit for people often navigating complex medication regimes.

Committing to the ambitious goal of sequencing the DNA of every newborn baby by 2030, £650 million is allocated to whole genome sequencing, to grasp the twin opportunities set out by the Generation Study – faster diagnosis leading to better information earlier for families affected by rare conditions (and potentially earlier interventions), and the more complex and ambitious concept of personalised care through predictive genomics (see BioNews 1172, 1210, 1259 and 1261). The wording of the announcement, though light on detail, suggests both.

Having argued for change in newborn screening decisionmaking for many years (see BioNews 1023, 1120, 1123 and 1180), this ambition must be welcomed. It's an announcement akin to John F Kennedy's 1962 'We choose to go to the Moon' speech. It tells us precisely where we need to be in ten years, leaving the pathway to be designed. The necessity for change is now not in doubt.

More broadly, the benefits of a fully integrated genomic health service will not materialise overnight. The infrastructure, workforce, and ethical frameworks required for such a transformation demand careful implementation. This is where there is a valuable opportunity for our community to inform how we reach this goal.

The very nature of a decade-long strategy presents challenges. For those currently living with the daily realities of a genetic, rare and undiagnosed condition, ten years is not merely a strategic timeline. It is a significant portion of a lifetime.

Many people affected by genetic, rare and undiagnosed conditions experience a long diagnostic journey, with more than a third waiting more than five years for a confirmed diagnosis. Access to specialist care is frequently limited and poorly coordinated. Furthermore, a staggering 95 percent of rare conditions currently lack any licensed treatment. Even when treatments exist, people encounter systemic barriers and delays in accessing these potentially life-changing medicines, underscoring a critical need for improved pathways from diagnosis to effective interventions and support.

There are some short term benefits that the Plan can deliver. Enhanced self-management via the NHS App, providing direct access to health records and tools for care coordination, appointments, and communication will be helpful. The commitment to health information consistently following the individual is welcome, as is the aim for 95 percent of those with complex needs to have a care plan by 2027. Furthermore, a more innovation-friendly regulatory system – including the Innovator Passport being in place by 2026 – should help to streamline access to new medical technologies and fast-track medicines.

The Plan's emphasis on local neighbourhood health services will undoubtedly benefit our community. However, the Plan understates the value of specialist expertise, and its role in the care of people with genetic, rare and undiagnosed conditions. Decisions to refer to specialised hospitals are crucial, and require expertise. They cannot simply be left to artificial intelligence. We must also ensure that the shift in spending towards out-of-hospital care is not at the expense of specialist services, especially in the context of uncertainty surrounding NHS England's future.

The urgent need for a renewed UK Rare Diseases Framework

Despite the commendable long term vision of the NHS Ten-Year Plan, a renewed UK Rare Diseases Framework is essential to address the immediate challenges faced by our community (see BioNews 1244). The existing Framework strategically addresses critical areas such as diagnosis, professional awareness, care coordination, and ensuring access to specialist services and treatments. Without this dedicated framework, the complexities of genetic, rare and undiagnosed conditions risk being overlooked within the broader Ten-Year Plan healthcare strategies.

A renewed Framework is necessary to facilitate cross-disciplinary collaboration, improve services and champion research into these conditions. Ultimately, a renewed framework would ensure that the Plan's promise of equitable healthcare reaches everyone, regardless of the rarity of their condition.

Conclusion

The NHS Ten-Year Plan represents a pivotal moment for healthcare in England, and we welcome the bold ambition of putting genomics at the heart of the health service. The significant investments and ambitious programmes promised by the Plan – particularly in genomics and newborn genome sequencing – are much needed, and hold great promise for a future where diagnostic odysseys are shortened and personalised care becomes a reality.

However, it is crucial to maintain a balanced perspective. The lack of detail on implementation and the ten year timeline means that people will continue to live with the challenges of genetic, rare and undiagnosed conditions in the interim. The renewal of the UK Rare Diseases Framework is an urgent necessity, ensuring that the holistic needs of this community are met now rather than in a decade's time.

Successfully implementing a robust new Framework would also demonstrate the potential to build a healthcare system that leaves no one behind. We should consider this a litmus test for the entire NHS. If the Government can get it right for the rare conditions community, it would be a powerful indicator that they can create a healthcare system capable of providing comprehensive, excellent care for all.

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The availability of genetic and genomic testing for people and families affected by rare disease will be discussed at the free-to-attend online event Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely?, taking place online on Wednesday 22 October 2025.

Find out more and register here.