Written by Henry Burkitt, managing director, Oxygen Strategy

Estimated reading time: 6 minutes

As NHS England is set to be absorbed by the Department of Health and Social Care as part of a major systemic shake up, Henry Burkitt, managing director, Oxygen Strategy, talks us through what he believes should be our pressing questions regarding the future of rare disease policy in England

As the machinery of healthcare policy in England undergoes its most significant reform in over a decade, rare disease patients and their advocates face a moment of both uncertainty and opportunity. With NHS England (NHSE) set to be fully absorbed into the Department of Health and Social Care (DHSC) by 2027, the integration raises pressing questions: Who will champion rare diseases? What happens to existing specialised services and innovation programmes? And will the four priorities of the UK Rare Diseases Framework—faster diagnosis, increased awareness, better coordination, and improved access—be advanced or undermined?

This article explores how the integration could reshape the rare diseases ecosystem, drawing on DHSC’s 2025 Action Plan and early signals from the transition roadmap.

1. Faster diagnosis: Genomics and the risk of system disruption

The integration threatens to disrupt progress in one of the most dynamic areas of rare disease detection: genomics. NHSE currently funds eight Genomic Medicine Service Alliances, which play a central role in expanding access to whole genome sequencing and embedding diagnostic pathways for rare and inherited conditions. These alliances underpin the NHS’s ambition to become a world leader in genomic diagnostics, a key pillar of the UK Rare Diseases Framework.

However, responsibility for these networks is expected to transfer to a newly centralised DHSC commissioning function. While this may reduce duplication, the move risks fracturing relationships with regional partners and impeding agility in commissioning and scaling innovation. Much will depend on whether the DHSC retains the clinical expertise and regional collaboration models that NHSE’s genomic alliances have cultivated.

Moreover, if DHSC’s anticipated regional oversight structures prioritise budget control over transformation, genomics—typically high-cost and low-volume—may struggle to gain traction during the integration period. Strong ministerial support and cross-departmental coordination with the Office for Life Sciences will be essential to maintain diagnostic momentum.

2. Awareness among healthcare professionals: Will national clinical leadership be diluted?

Increasing awareness of rare diseases among health professionals is another core framework priority. NHSE’s networks of national clinical directors, specialty advisers, and Clinical Reference Groups (CRGs) have played a central role in this, ensuring rare diseases feature in clinical guidelines, service specifications, and education programmes.

Under the DHSC model, clinical leadership is expected to be consolidated under the chief medical officer’s medical directorate. While this may elevate the visibility of clinical issues in policy decisions, it also risks a thinning out of rare disease expertise. A leaner structure may mean fewer disease-specific leads, with clinical advice grouped under broader banners.

Without explicit protection for rare disease advisory roles, the nuanced knowledge required for rare conditions could be lost in generalist structures. The retention of CRGs and the Rare Disease Advisory Group as formal advisory bodies to the DHSC will be critical to preserving this expertise.

3. Coordination of care: from specialised commissioning to central control?

Rare diseases often require care across multiple specialisms, hospitals, and services—a key reason NHSE established Rare Disease Collaborative Networks to improve care coordination. These networks also feed into the CRGs that guide the commissioning of over 150 specialised services, including around 100 that are nationally managed.

Once NHSE is abolished, DHSC will inherit responsibility for both the direct commissioning of highly specialised services and the oversight of Integrated Care Boards (ICBs) for delegated ones. This centralisation could bring consistency and reduce variation—but at what cost?

One likely impact is a more overtly political scrutiny of regional variations in access to care, particularly uptake of specialised drugs. This may heighten accountability but could also lead to a narrower focus on affordability rather than holistic care pathways.

The development of an “operational framework” for N=1 or individualised therapies, currently underway within NHSE, is also at risk. Without a dedicated structure for rare and ultra-rare commissioning within DHSC, these therapies may fall through bureaucratic cracks—despite their inclusion in the Action Plan as a transformative opportunity.

4. Access to treatments: a new era of commercial strategy—or paralysis?

The merger of NHSE’s Medicines and Value directorate into DHSC offers a double-edged sword for access to treatment. On the one hand, centralising commercial negotiation with pricing policy may allow for more joined-up approaches to advanced therapies, such as gene and cell therapies—many of which target rare conditions.

DHSC’s creation of the Advanced Therapies Coordination Group in September 2024 is a promising signal of intent. However, the success of this group hinges on seamless coordination between any new DHSC commissioning function, Medicines Directorate and Office for Life Sciences (OLS). If rare disease voices are not embedded in these new structures, the very therapies patients rely on could become victims of policy fragmentation.

Another area of risk is the integration period itself. The two-year transition could slow or stall decisions on funding, particularly for therapies currently going through managed access or early access pathways. NICE’s evolving role in this new setup also warrants scrutiny. While technically unaffected, NICE will have to adapt to a new commercial liaison partner in whatever form ministers end up choosing.

Conclusion: a fragile opportunity for rare disease progress

The integration of NHSE into DHSC represents the biggest structural shake-up in healthcare governance since the 2012 Health and Social Care Act. It could lead to greater policy alignment, accountability and strategic coordination across the rare disease landscape. But it also carries significant risk—disruption to delivery, loss of clinical expertise, and a pause in innovation that rare disease patients can ill afford.

If DHSC is to honour the four priorities of the UK Rare Diseases Framework, it must ensure:

• continued investment in genomics and early diagnosis tools
• protection and continuation of rare disease clinical leadership structures
• safeguarding of collaborative networks and commissioning pathways, and
• a coherent, politically supported commercial strategy for rare therapies.

In short, rare diseases must not become an afterthought in the new departmental architecture. With strong leadership, inclusive governance, and a commitment to patient-centred reform, this fragile transition could yet deliver lasting gains for some of the most underserved in our healthcare system

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