What does this mean for patients, their caregivers, and healthcare systems?

Diagnosis is the first step in the patient journey. Making diagnosis faster and more accurate will improve patient experience and facilitate accelerated access to treatment for rare diseases. This has the potential to improve clinical outcomes and reduce secondary care costs, driven by co-morbidities for example, and in turn reducing the use of healthcare resources.

The diagnosis and subsequent care of patients with rare diseases often involves many healthcare professionals across multiple hospitals and specialist centres. Improving both awareness among primary healthcare professionals, so that they can recognise rare diseases, and coordination of care across stakeholders and institutions will reduce unnecessary appointments and triages, therefore making referrals to specialists and subsequent diagnoses more efficient.

Travelling between multiple hospitals and specialist centres, sometimes between countries, is a key challenge that increases the burden on patients with rare diseases and their caregivers, who are often family members. Improving coordination of care and the use of technology such as video appointments and virtual multidisciplinary meetings provides the opportunity to reduce this burden and improve patient access to innovative treatments.

What does this mean for the manufacturers developing new treatments for rare diseases?

Improving diagnosis and referral pathways for patients with rare diseases will support the clinical development of new therapies. The identification of eligible patients is often a challenge within the clinical development process for rare diseases, with implications for the speed of clinical trial recruitment, the feasible sample size, and the overall development timelines. The improved diagnosis pathways and co-ordination between stakeholders in the UK should therefore support the environment for clinical research and development of new therapies for rare diseases. Furthermore, once a therapy is available for use in the NHS, the proposed developments should enable a clearer care pathway for patients, with alignment across primary and secondary care to support rapid diagnosis, access to treatment, and if required the collection of real-world outcomes data.

Additionally, the framework acknowledges the importance of international collaboration in research for rare diseases. Although specific proposals and the implications for manufacturers are yet to be defined, this aligns with ambitions for the NHS to “take a greater role in adopting evidence based innovative new treatments” laid out under the UK Research and Development roadmap. The importance of collaboration also resonates with parallel initiatives such as the Early Access to Medicines Scheme, the NHS Accelerated Access Collaborative, and the Innovative Medicines Fund. This demonstrates the growing policy drive to support early access for therapies with the potential to address unmet needs for patients, whilst generating additional data to support evidence-based recommendations for use.

As part of the ongoing planning for the design and implementation of the policy framework across the nations of the UK, manufacturers should continue to highlight the challenges for patients with rare diseases and associated requirements to improve access to treatment. For instance, issues such as referral pathways, the availability and distribution of specialist centres and physicians across the UK, labs for diagnostic testing, and a coordinated supply chain (particularly for cell and gene therapies) can all have a significant impact on timely access to treatment. It will also be important for manufacturers to work with governments on the development of innovative payment and access models for therapies with the potential for significant long term clinical and economic benefits, with potential uncertainty associated with long term data at the time of launch.

Manufacturer engagement with patient organisations will also be a crucial step to support awareness of rare diseases. The patient and carer voice is highly important for articulating the burden of rare diseases, their experience of current healthcare provision, in addition to facilitating an understanding of the patient relevant value that new treatments can bring. This perspective should be at the heart of policy developments to improve patient treatment and quality of life.

What next?

The UK Rare Diseases Framework is only the first phase of this policy. The second phase will involve each of the four nations developing an action plan to lay out how they will address the four main priorities of this work. It is hoped that these action plans will be published in 2021. Until then, although the framework demonstrates a commitment from governments to the rare diseases community, there is no actionable plan for how their commitment will be honoured. Rare Diseases UK describes this as “a gap in policy delivery”.

Article published 3 February 2021.