GK Strategic Adviser and former health minister Steve Brine examines the government’s new Rare Diseases Action Plan and its impact on people living with rare diseases.
As someone who has spent many years engaged with health policy, both inside and outside government, I was genuinely heartened to see the England’s Rare Diseases Action Plan published to mark Rare Disease Day last month.
This fifth annual plan builds on the UK Rare Diseases Framework and sets out clearly how we intend to turn the strategic priorities I first produced as the minister into real improvements in people’s lives.
Rare diseases may, individually and as the name suggest, be uncommon – but collectively they affect a significant number of people – and even more indirectly via family members.
I have always been acutely aware how too many families face what is heartbreakingly called a ‘diagnostic odyssey’; years of uncertainty, multiple referrals, and repeated explanations before a condition is recognised and understood.
This isn’t just about medicine; it’s about dignity, continuity of care, and basic fairness across the NHS.
The new 2026 Action Plan wisely positions itself as a practical implementation of the Rare Diseases Framework’s four core priorities:
- helping patients get a final diagnosis faster
- increasing awareness of rare diseases among healthcare professionals
- better coordination of care; and
- improving access to specialist care, treatment and drugs.
But it does much more than repeat them, it brings them to life in the context of the Government’s 10 Year Plan for the NHS in England.
At its core, the plan seeks to show how system-wide reform – from digital transformation to community-based care – can make a real difference for people living with rare conditions.
One of the most meaningful aspects of this year’s plan is its emphasis on health equity, something ministers often say is central to their health mission.
For too long, people living with rare diseases have experienced variation in the care they receive, depending on where they live or what their condition is.
This is not unique to this cohort of patients of course but, for the first time in an action plan of this kind, the system explicitly recognises rare disease as a health inequality, and commits to addressing this through better data, targeted improvement work, and integration with NHS England’s longstanding approach to tackling inequalities.
This marks an important shift – one that sits right at the heart of a modern health service, and was important to me when drawing together the original priorities.
On the diagnostic front, progress is evident but needs to go further and faster.
The NHS Genomic Medicine Service now delivers genomic testing for more than 7,000 rare conditions, and there’s a renewed focus on significantly shortening that ‘odyssey’.
The re-procurement of the NHS Genomic Medicine Service (GMS) from April 2026 is welcome as is the suggestion, something I wish I had been able to do, the new contracts will give certainty and run for ten years from this spring.
What this renewed GMS should deliver is a forward-looking contract which embeds genomic technology into standard clinical pathways and, in-turn, makes a positive impact on diagnosis delays.
Last year also saw the establishment of pilot clinics for people with undiagnosed rare diseases that bring many more services ‘under one roof’.
Two of these pilot centres – one in the north and one in the south of England – are expected to be operational by autumn 2026. Their purpose is simple but should make a big difference; to give people who have exhausted standard lines of diagnosis a new path to understanding what’s wrong. This brings vital hope.
Coordination of care remains a longstanding challenge for people with rare conditions, for whom the term comorbidity was coined. This requires input from a range of specialists and can be very challenging for a health system such as the NHS.
To answer this, NHS England is looking at models of care that support rare disease collaborative networks (28 of which now exist) to join things up and bring that consistency across services.
Another significant advance is the work being done on so-called ‘novel’ therapies.
Regulators like the Medicines and Healthcare products Regulatory Agency have made commitments to change how rare therapies are treated, with a view to facilitating more timely access to the latest treatments.
These are the sorts of advances that not only push scientific boundaries, but also give real hope to individuals and families living with rare conditions. We need to see, soon, the first patient treated by one of these therapies to keep momentum in this space.
Of course, none of this has happened by accident. Central to the 2026 Action Plan’s development and delivery has been the voice of the rare disease community.
I launched the ‘National conversation on rare diseases’ in 2019 which gathered over 6,000 responses across the UK and directly informed the four priorities being settled upon.
This time, patient organisations, clinical experts and charities seem to have again provided insight, and lived experience, ensuring the new plan lands with the credibility it must have to be successful.
I have tried to be positive in this piece – and there is much to be positive about – but we shouldn’t fool ourselves there isn’t a LOT of work to be done.
Today, only around 5 % of rare conditions have an approved and effective treatment, and for too many people the journey towards diagnosis is more long wandering road than ‘odyssey’ which suggests an adventure eventually leading somewhere good.
This plan isn’t the endpoint – and it’s not meant to be. It is the next part of a long-term commitment which builds on the work I did, which in itself built on the 2013 UK Strategy for Rare Diseases.
Credit to the current team of health ministers, across the UK, who have agreed to further extend that work giving us further chances to address unmet need and prepare for the future.
As someone who has seen both the frustrations and the progress in this policy area over many years, I welcome the clarity, ambition and practical focus of the 2026 Action Plan.
At a time when Ministers in this government are (rightly) criticised for producing grand plans without much of a nod to implementation, it is refreshing indeed.
