Rare diseases – new NHS plan presents big opportunities for pharma, med tech and device firms

I get lots of questions on rare diseases from my pharma, med tech and device clients so it was good to see the recent publication of the England Rare Diseases Action Plan 2025.

Around 3.5million people in the UK are affected by rare diseases, and this plan is a significant step forward by the government to improve their lives.

Designed around enhancements in patient care, it also presents significant opportunities for pharma, med tech and device companies to collaborate, innovate and help transform the rare disease landscape.

Four core priorities at the heart of government initiative

We haven’t had a plan like this since January 2021 and this latest one comes with four core priorities for rare disease patients.

1. Faster diagnosis – Early and correct diagnosis avoids unnecessary appointments, referrals and non-elective admissions. This plays straight into Lord Darzi’s desire for front-end, prevention-led pathways where early, correct diagnosis and treatment prevents a slow decline in disease or people developing complexities that require hospital intervention. The action plan references The Generation Study, a current pilot programme which uses whole genome sequencing in newborn babies to detect rare diseases before the symptoms appear.

2. Increased awareness of rare diseases – Right across the professional healthcare spectrum. They are going to develop and implement new strategies to educate primary care professionals, GPs, pharmacists, nurses, midwives – the whole team – about rare diseases and the impact they have.

3. Better care co-ordination – As with most of the NHS, this is the third priority, signalling a focus on improving integration of care pathways to enhance efficiency and patient experience.

4. Improve access to specialist care – Specialist treatment and newer drugs being developed specifically for rare diseases. The government is already working with pharma and industry stakeholders – as well as clinicians and patients – to address access challenges for rare disease treatments by establishing more effective pathway opportunities.

In addition to those four priorities, the plan also introduces three new initiatives:

• Multi-system ‘carousel’ clinics – NHS England is developing integrated clinics, where rare disease patients can see multiple specialists in a single day.
• Changes to clinical trial legislation – new regulations to streamline clinical research for rare disease therapies and encourage faster development and approval processes for the treatments.
• Individualised gene therapies – talked about for a long time, this would include a framework of support for gene therapies, ultra-personalised treatments for rare diseases. In recent conversation, it emerged there were only 20 patients in the UK suitable for a particular treatment, so the manufacturer’s real challenge was finding those 20 patients suitable for this ultra-personalised treatment.

Innovation in genomic medicine and diagnostics welcomed

There is a big emphasis on genome sequencing in newborns. This offers up some great opportunities for pharma, med tech and device companies involved in genomic medicine, sequencing technologies and bioinformatics.

Firms will be able to collaborate with the NHS to integrate those kind of tools into mainstream care, accelerating the development of companion diagnostics that support the rare disease treatment pathways.

Healthcare professional education and awareness presents another opportunity.

If we’re going to see an increased focus on educating primary care providers about rare diseases, pharma, med tech and device companies have an opening to develop face-to-face and digital education platforms. You might even see AI-powered decision support tools and e-learning modules.

If you’re a company providing clinical decision-making support, you’ll play a role in helping frontline healthcare workers identify and appropriately refer rare disease patients earlier. Thinking back to the hunt for the 20 patients, many likely presented in primary care (and still are) but there isn’t an awareness of their condition.

Remote monitoring among the key areas where medtech can lead

For digital health and the integrated care models around that, the introduction of the multi-disciplinary carousel clinics mentioned highlights a need for better care coordination.

Medtech companies can shine here, particularly with remote monitoring solutions like telemedicine platforms or patient data integration systems. Digital solutions that enable seamless specialist coordination that reduces burden on the patients and the healthcare system will find a big role moving forward.

For pharma companies – if the UK does implement new clinical trial legislation in support of rare disease treatments to address the bottlenecks, trials that leverage adaptive study designs, real-world evidence and patient registries to accelerate the approval process will all be welcomed.

Additionally, companies specialising in orphan drug development can work with policy makers to ensure streamlined pricing and reimbursement pathways.

An NHS focus on individualised gene therapies will also be great for bio-pharmaceutical firms developing those gene editing technologies.

Companies specialising in vector development, cell-based therapies and precision medicines would then be in a position to collaborate with the big research institutes and the NHS, enabling them to scale up production, optimise delivery and establish long term patient-monitoring programmes.

UK developers could be global leaders

If we see a growth in Advanced Therapy Medicinal Products, the UK is going to be positioned as a global leader in that area. Developers in the UK will have the opportunity to invest in research and development within that growing cell and gene therapy sector.

Any collaborations with institutions in the field of cell and gene therapy would facilitate faster commercialisation and hopefully speed up the regulatory approvals process.

There are also clear opportunities in health data and AI development of information on rare diseases set by the National Disease Registration Service.  Companies keen to leverage big data analytics, machine learning and AI-driven insights would be able to help researchers identify patterns in rare disease progression, treatment responses to that and of course, patient demography. That would then enable much better targeted therapies.

Work hand in glove with NHS to vault market access barriers

To address market access barriers, challenges remain for the industry around pricing reimbursement and, of course, market access for rare disease treatments.

There was a recent survey of The Association of the British Pharmaceutical Industry and The BioIndustry Association, and it found many companies don’t expect their full pipeline of rare disease medicines to reach UK patients due to a lot of the difficulties associated with securing NICE approval, which obviously presents commercial challenges as the cost of getting NICE approval can be prohibitive in terms of the number of patients to be treated.

The key is to try to influence policy to help create sustainable funding models. We’re talking about life-saving treatments and it’s just about finding a way to get them to market.

Read my blog – Learn how to embed your product in NHS treatment pathways – here.

For med tech firms, anything that helps early detection and ongoing monitoring such as wearable technology, biosensors, point of care diagnostics and AI-assisted imaging tools are perfect right now.

The future is bright for companies producing digital biomarkers and remote monitoring technology that could help enhance long-term disease management, particularly in rare neurological, metabolic and immunological conditions.

Get in early and jump on board the innovation train

Pulling all this together, the question is how can industry help accelerate the adoption of new rare disease treatments? How do you get strategic partnerships with the NHS? How do you work with the innovation hubs, the research institutes and the patient advocacy organisations? How do we run the pilots, develop the evidence and then shape the policy?

This action plan marks a shift, a moment where the focus is on rare disease innovation in the UK. The NHS is going to focus on genomics and digital health, that fits perfectly with Lord Darzi’s advice.

If industry can align with this as a government initiative, it might help overcome some of the existing market access obstacles it currently faces. It could also help shape what happens in future around rare disease diagnosis and treatment, and ultimately improve patient outcomes.

Scott McKenzie helps pharmaceutical, medical technology and device firms get their products and services in front of the right NHS decision-makers. In 2023 alone, he helped land 53 new NHS projects, and he added a further 28 in 2024. His 12-month mentorship programme – revamped and expanded for 2025 – offers tools, NHS customer insights and direct decision-maker introductions to get your projects over the line. Find out more here.