Policy paper

England Rare Diseases Action Plan 2024: main report

Published 29 February 2024

Applies to England

Ministerial foreword

In 2021 we published the UK Rare Diseases Framework, this set out priorities to address the needs of people living with rare conditions. As part of this framework, we publish an action plan each year over its 5-year lifespan. This year’s England Rare Disease Action Plan provides an update of the significant progress made against actions outlined in the 2023 action plan and 2022 action plan and proposes 7 new actions to continue to address the priorities highlighted in the UK Rare Diseases Framework.

We continue to work closely with colleagues across the healthcare system and the rare diseases community to ensure the actions outlined are addressing the needs of people living with rare conditions. This year we have worked together to drive change. One example of this is that NHS England have designed and funded 2 pilots for Syndromes Without A Name clinics - these will aim to deliver care and diagnosis for people with rare undiagnosed conditions. Furthermore, they are also in the process of developing networked models of care which will ensure patients can access specialist care and be treated or cared for as close to home as possible. This will begin with inherited metabolic disorders and amyloidosis.

This action plan highlights the significant investment made in driving research for rare disease including a £14 million investment to UK Rare Disease Research Platform facilitating greater collaboration between academic, clinical and industry research, and people living with rare diseases, research charities and other stakeholders, to accelerate the understanding, diagnosis and therapy of rare diseases. The self-funded, not for profit medical research organisation LifeArc also announced a significant investment through its Rare Disease Translational Challenge which will see it invest £100 million into rare disease research by 2030. Alongside this the research landscape for rare diseases was mapped, from this research gaps and lever for change will be identified to ensure even more conditions receive funding.

We understand keeping the patient voice at the centre of the action plan is important. We thank members and representatives of the rare disease community that have given up their time and shared personal experiences to drive change in the rare diseases space. The rare diseases community shared their experiences at a workshop on non-genetic rare conditions, provided feedback on the National Institute for Health and Care Excellence (NICE) quality standard on transition from children’s to adults’ services leading to it being updated to better address the needs of the rare diseases community and provided feedback to shape and inform the action plan. Alongside this, members of the community also gave feedback and worked on specific actions with various delivery partners.

Over the year ahead we will continue to monitor progress and drive change to improve the lives of people with rare conditions. Thank you to all those involved in the ongoing work to support the development and delivery of our action plans - we hope this will deliver real change through cutting edge research, working with the NHS and adopting new approaches to delivering care.

Andrew Stephenson CBE MP

Minister of State (Minister for Health and Secondary Care), Department for Health and Social Care

Executive summary

The 2021 UK Rare Diseases Framework set out a shared vision for improving the lives of people living with rare diseases across the UK. During 2022, each of the 4 UK nations published an action plan, detailing how these priorities would be addressed. England’s first action plan was published in February 2022, outlining 16 actions, and the second action plan was published in February 2023, with a further 13 actions.

In the year since, we have continued to make significant progress. Here, in England’s third action plan, we report on key achievements. These have been delivered by the Department of Health and Social Care (DHSC) and NHS England alongside other delivery partners including National Institute for Care Excellence (NICE), Medicines and Healthcare products Regulatory Association (MHRA) and Genomics England.

On diagnosis of rare diseases we have:

• following extensive consultation, published the initial list of over 200 rare conditions that will be included in the ground-breaking Generation Study, which will pilot whole genome sequencing of newborns in the NHS to enable faster diagnosis of rare conditions
• designed and secured funding for a pilot for 2 Syndrome Without a Name (SWAN) clinics in England, one for children and one for adults
• furthered understanding of the challenges faced by people with non-genetic rare conditions through a workshop held in partnership with the Rare Autoimmune Rheumatic Disease Alliance

On awareness of rare diseases among health care professionals we have:

• launched 8 new specialities on the innovative digital educational resource, GeNotes, which puts information on genetic and rare diseases at the finger-tips of healthcare professionals
• further developed the Rare Disease Education Hub, a dedicated online portal featuring key facts, definitions and concepts and links to education and training courses and to patient and family support
• integrated rare diseases into curricula across medical professions and specialities

On delivering co-ordinated care for people living with rare conditions we have:

• published guidance on use of virtual clinics in highly specialised services - improving the use of videoconference and telephone clinic calls and enabling people to access to co-ordinated care of multiple specialists
• published a revised NICE quality standard on transition from paediatric to adult health services, incorporating feedback from people living with rare conditions and their families or carers
• introduced requirements for service specifications for patients with rare diseases to consider user’s psychosocial needs and ensure co-ordinated pathways for access to mental health support
• held a workshop on access to mental health services for children and young people living with rare conditions to further understand the challenges faced and identify possible solutions

On improving access to specialist care, treatment and drugs we have:

• worked with industry to ensure the service delivery implications of new drugs are well understood so access can be rapidly provided to patients after the drugs are authorised
• worked with the Association of British Pharmaceutical Industries and the BioIndustry Association to analyse the effectiveness of 3 access pathways; the Early Access to Medicines Scheme (EAMS), the Innovative Licensing and Access Pathway (ILAP), and the Innovative Medicines Fund (IMF) for rare disease treatments so we can identify improvements to these schemes
• carried out a survey on experiences of people living with rare conditions of using the National Institute for Health and Care Research (NIHR) Be Part of Research Platform so we can make improvements and make it easier for people to get involved in clinical trials

Significant progress has been made on furthering research on rare diseases. We have:

• established the £14 million UK Rare Disease Research Platform to accelerate understanding, diagnosis and therapy
• for the first time, mapped the rare disease research landscape and published a report detailing almost £1.1 billion investment from government and charities over a 5-year period, which will inform future work to identify research gaps and priorities

In addition to the progress made against previously defined actions, in this year’s action plan we also set out 7 new actions to drive further improvements and address outstanding areas of need for people living with rare diseases.

These actions include:

• development of a genomics communication resource to support healthcare professionals in having sensitive conversations on genomic testing and results
• implementing networked models of care for patients with rare diseases ensuring that specialist expertise is always available while allowing patients to be treated and cared for as close to home as possible
• improving access to whole body scans for people with rare conditions resulting in an inherited predisposition to cancer prematurely to improve survival and outcomes
• addressing health inequalities for people with rare conditions through the use of a toolkit, for highly specialised services and by mapping and measuring the geographic spread of patients accessing these services

Over the coming year we will continue our ongoing dialogue with the rare diseases community to ensure we can most effectively prioritise and address the challenges they face in accessing health and care services. This collaboration between stakeholders, government and delivery partners will facilitate actions to create long-lasting change to improve the lives of people with rare diseases.

Introduction

The 2021 UK Rare Diseases Framework set out a national vision for improving the lives of the 3.5 million people in the UK living with a rare disease under 4 priority areas:

• helping patients get a final diagnosis faster
• increasing awareness of rare diseases among healthcare professionals
• better co-ordination of care
• improving access to specialist care, treatments, and drugs

These priorities are supported by 5 underpinning themes:

• patient voice
• national and international collaboration
• pioneering research
• digital, data and technology
• wider policy alignment

Since its publication, all 4 UK nations have published action plans, outlining their commitments to deliver on this collective framework.

This is England’s third action plan, developed with delivery partners across the health system and in collaboration with people living with rare conditions. Together our first 2 action plans set out 29 specific and measurable actions, with clear owners. This 2024 action plan reports on progress against these actions and includes 7 new actions for the year ahead. The number of new actions this year is deliberately lower, to allow focus on delivery of existing actions. Publication of the 2024 action plan follows our commitment to publish action plans annually during the lifetime of the UK Rare Diseases Framework. As in previous years, we have sought feedback from the rare diseases community as we have developed this action plan. Further detail of this engagement is found in the ‘Patient voice’ section of ‘Underpinning themes’ below.

Box 1: what are rare diseases?

A rare disease affects fewer than 1 in 2,000 people within the general population. It is estimated that there are over 7,000 rare diseases, with new conditions continually being identified as research advances. While around 80% of rare diseases have an identified genetic origin, they can also be caused by other factors such as disordered immunity or infections. Although rare diseases are individually rare, they are collectively common – with 1 in 17 people being affected by a rare disease at some point in their lifetime.

Rare diseases can be both life-limiting and life-threatening, and disproportionately affect children. Seventy-five per cent of rare diseases affect children and more than 30% of children with a rare disease die before their fifth birthday. People living with rare diseases, and their families, often face a lifetime of complex care leading to a profound impact on their education, financial stability, physical mobility, and mental health.

Section 1: progress report on actions in England’s 2023 Rare Diseases Action Plan

Over the course of 2023, the England Rare Diseases Framework Delivery Group has continued to meet regularly to co-ordinate delivery of England’s action plans. The group brings together publicly funded delivery partners and representatives of the rare disease patient and clinician communities, to monitor the delivery of existing commitments, and agree on the content of future action plans.

Here we summarise key achievements over the past year against the 2022 and 2023 actions. Significant progress has been made, with a number of actions either concluded, or extended to include new milestones for the coming year. However, delivery has taken place against the backdrop of a challenging environment and as a result, some actions have not met all their milestones within the expected timeframe and will continue this year. More details on the status and progress of each action can be found in annex A.

Priority 1: helping patients get a final diagnosis faster

The UK Rare Diseases Framework highlighted the importance of getting a rapid and accurate diagnosis. This can ensure timely access to treatment and care, provide a possible prognosis, and offer options for family planning.

One aspect of improving diagnosis time is newborn screening which can allow treatment to be given as early as possible. The UK National Screening Committee (UK NSC) makes recommendations on screening with support and advice from its Fetal, Maternal and Child Health expert group - the evidence review process describes how the committee assesses screening proposals against its evidence review criteria. Action 1 committed to improving the evidence base to support the UK NSC make robust decisions about newborn screening for rare diseases. Resourcing constraints have delayed progress against some action-specific monitoring and evaluation targets, which will be carried forward into the coming year.

In August 2023 work from the UK NSC Bloodspot Task Group (BSTG) resulted in publication of a manuscript comparing the key principles of newborn screening between the UK and European Organisation for Rare Diseases (EURORDIS). This manuscript used the set of patient-driven principles for newborn screening published by EURORDIS as a reference point for comparison with newborn screening policy development and screening practice in the UK. The manuscript found that the UK aligns with many of the principles recommended by EURORDIS, but also explained areas of divergence and explored some of the challenges with seeking to reach consensus and align approaches across Europe.

A workshop was held in November 2023, with an expert group made up of UK policy makers, health economic academics from the UK, USA and Spain and patient and public voice representatives, to progress the BSTG’s project to identify challenges, opportunities and practical approaches when developing modelling for rare diseases. A second modelling project workshop will be held in March 2024 and a manuscript synthesising the outputs of a literature review and the workshop discussions will be prepared for submission to a journal for publication in the summer.

Work on a project focusing on how disease registries, data linkages and improved data coding could help provide evidence on rare disease outcomes and other metrics, and work to consider study design options for researchers involved in test accuracy studies are underway.

The UK NSC has recommended screening tyrosinemia. Ministers are considering this recommendation along with an in service evaluation (ISE) for spinal muscular atrophy (SMA) which will gather evidence that could inform a recommendation on a full screening programme for SMA.

Under action 2, the Generation Study is an NHS-embedded research study which aims to understand whether sequencing babies’ genomes can help to discover rare genetic conditions earlier. It aims to look at the DNA of over 100,000 babies and gather evidence to consider whether whole genome sequencing could be rolled out as part of a future newborn screening programme. This action has progressed well with all milestones met. In October 2023, Genomics England shared an initial list of over 200 rare conditions caused by variations in over 500 different genes that will be included when the Generation Study begins. These conditions were selected on the basis they met 4 key principles:

• there is strong evidence that the genetic variant(s) causes the condition and can be reliably detected
• a high proportion of individuals who have the genetic variant(s) would be expected to have symptoms that would have a debilitating impact on quality of life if left undiagnosed
• early or pre-symptomatic intervention for the condition has been shown to lead to substantially improved outcomes in children, compared to intervention after the onset of symptoms
• conditions screened for are only those for which the interventions are equitably accessible for all

When a newborn has a positive test result, this will be fed back to a specialist clinical team with expertise managing that condition. We would anticipate that this specialist team would write to the GP with tests performed and results as part of standard clinical practice. In addition, Genomics England will send the GP a copy of the letter sent to participants when there are no conditions suspected. Work is ongoing to create pathways to highlight the confirmatory tests and intervention for each condition and mapping national and regional referral routes. This work will involve input from NHS England’s Genomics Unit, commissioning teams and NHS Genomic Medicine Service Alliances, to enable a best practice model with regards to co-ordination of care. The process for analysing and interpreting variants within the identified genes is also being established. This work is expected to be completed in early 2024, approved through governance of the NHS Newborns Clinical Assurance Group.

External evaluation expertise will be sought from a multidisciplinary academic research group led by UCL with input from patient advocacy groups. Genomics England will continue to work closely with NHS England, the National Screening Committee, Genetic Alliance UK and partners to ensure that they are informed of findings as the study progresses, to assess results of the study and in making its recommendations.

The evidence collected through the evaluation of the Generation Study will help inform future policy decisions and study results will be communicated to all participants.

Actions 3 and 4 were completed in the 2023 action plan and incorporated into business as usual. Since publication of the 2023 action plan, the National Genomic Test Directory continues to test for over 3,200 rare diseases. NHS England regularly reviews the eligibility criteria for these tests with several updates made during 2023, including the addition of new clinical indications such as hereditary alpha tryptasaemia, non-invasive prenatal diagnosis for monogenic diabetes, and unexplained death in infancy and sudden unexplained death in childhood. For some of the existing clinical indications new gene targets have been added and eligibility criteria has been expanded, for example the criteria for adult neurodegenerative disorders had the age threshold for inherited amyotrophic lateral sclerosis removed and additional criteria and gene targets included to test for cerebral amyloid angiopathy. The Genomics England Clinical Research Interface continues to yield new diagnoses with over 1,285 new, complex diagnoses for people with rare diseases returned to the NHS in 2023 to inform the most appropriate clinical care.

Many patients with rare diseases get a diagnosis through genomic testing, therefore it is important that access to genomic testing is equitable. Action 18, increased data-sharing between Genomics England and the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) will bring patient benefit in numerous ways including improved registration for rare disease patients and improving the understanding of the equity of access to genomic testing. The first transfer of whole genome sequencing (WGS) data to NCARDRS is expected in early 2024. The 2 test cases will be congenital malformation and dysmorphism syndromes and paediatric or syndromic cardiomyopathy, following this proof of principle, this will continue to be expanded to other relevant indications. An analysis plan to investigate testing patterns and equity of access for certain indications will be developed between NCARDRS and Genomics England over 2024 to 2025.

Long wait times for genetic testing are a key issue for people with rare diseases as many are diagnosed through this service. Using the patient level contract monitoring data set, NHS England is working closely with each NHS Genomic Laboratory Hub with the aim of implementing clinically relevant turnaround times and closely monitoring performance. Each NHS Genomic Laboratory Hub will have a recovery plan in place and a clear set of actions to significantly improve genomic testing reporting times over this financial year.

The NHS Genomics strategy committed that as part of the patient level contract monitoring data collection, activity data and test turnaround times will be monitored and made publicly available, in line with other diagnostic and NHS services. Through the publication of genomic testing performance and activity data, NHS England seeks to increase awareness of the service provision in the NHS and be transparent about successes delivered and challenges to be addressed. For the first time, NHS England published NHS Genomic Testing Service activity data on 14th December 2023. NHS England will continue to publish this data on a quarterly basis, in line with other NHS diagnostic services. Future iterations are likely to include a greater focus on performance data with regards to turnaround times and access within different communities. NHS England will continue to engage with patients and the public through the NHS GMS People and Communities Forum on any future iterations to these publications.

Whilst actions are being taken to help patients get a diagnosis faster, a greater understanding of the diagnostic odyssey may help to understand what factors contribute to delays in diagnosis. Furthermore, measuring the time taken to receive a diagnosis can be used to inform future decision making. Under action 17, in 2023 we have worked with NIHR to commission research to measure the diagnostic odyssey. Following a 2-stage application process, with applications reviewed by an expert panel convened by NIHR, a contract to carry out this research is currently being negotiated between NIHR and the successful applicant. Once the contract is in place, the rare diseases community will be informed who will carry out this work via the DHSC online platform and UK Rare Diseases newsletter. Milestones for the year ahead will be agreed and published and progress reported to the UK Rare Diseases Forum and in the 2025 England Rare Diseases Action Plan. The research project is expected run for 2 years, concluding in 2026.

Focus area: support for people with undiagnosed conditions

It is essential that effective care is in place for all people living with rare conditions, including those with undiagnosed conditions. Under action 5, a service model has been agreed, and funding secured, to pilot 2 SWAN clinics in England, one for children and one for adults. In designing this pilot, NHS England has drawn on learning from a range of sources, including the SWAN clinic pilot in Wales. The sites for the England SWAN pilots will be selected in 2024. It is hoped that these pilots will demonstrate how care for patients with undiagnosed conditions can be improved and, in some cases, novel approaches may yield diagnosis. SWAN clinics will improve diagnosis times for patients, unlocking social and educational care and preventing ineffective interventions given before diagnosis.

Focus area: support for people with non-genetic rare conditions

People with non-genetic rare conditions continue to face barriers in receiving accurate diagnosis and appropriate care. More than 20% of rare diseases do not have a known genetic cause, so it is important to consider the challenges faced by people living with these conditions in greater detail as well as solutions that could address them. As set out in the actions below, our delivery partners are taking active steps to make sure non-genetic rare conditions are included as they develop and deliver actions. This includes through the work of an UK Rare Diseases Framework Independent Advisory Group to generate the evidence base to develop quality standards applicable across all rare diseases (see section on better co-ordination of care).

In addition, in September 2023, we partnered with the Rare Autoimmune Rheumatic Disease Alliance (RAIRDA) to deliver a workshop with official representation, and participants, from all 4 nations of the UK. The workshop was held virtually and attended by 45 people, including those with lived experience across a range of non-genetic rare conditions. Presentations included:

• a case study on the NHS Eastern Network for Rare Autoimmune Disease
• lived experience of vasculitis
• research led by Swansea University which aims to enable earlier diagnosis, intervention and improved clinical outcomes through use of metabolomics

Breakout room discussions were held, each based around a different priority of the UK Rare Diseases Framework.

Several key points were highlighted by attendees that they felt were particularly relevant for people living with non-genetic rare conditions as follows:

• the need for an increased focus on providing education and tools to healthcare professionals to identify and manage non-genetic rare conditions
• the role of specialised networks in delivering high quality care at value for money - attendees recommended these should be developed and better resourced
• the benefits of including patient organisations in decision making and workshops
• there was a focus on ensuring data is used to help understand the care and treatment of people with non-genetic rare conditions
• primary care professionals may sometimes suspect a rare disease but not be able to ‘pinpoint’ the most relevant specialist to refer to, leading to frustration and failure to make a referral. Attendees wanted to ensure primary care professionals are able to effectively and confidently refer patients to secondary care

A summary of the report is published on the RAIRDA website.

Priority 2: increasing awareness of rare diseases among healthcare professionals

Improved awareness of rare diseases among healthcare professionals (HCPs) will allow for better delivery of care and an increased chance of diagnosis for patients. NHS England is addressing this through its ambitious National Genomics Education (NGE) Programme (actions 6 to 8 and 19). An innovative digital educational resource (GeNotes) has been developed for HCPs with relevant and concise information to support patient management, linking to the NHS Genomic Test Directories, and signposting to extended learning opportunities. GeNotes covers genetic and non-genetic rare diseases and has a rare diseases education hub which includes information for HCPs, and links to education and training opportunities.

Over the last year the National Genomics Education Programme has continued to develop the GeNotes resource and has launched 7 specialties:

• endocrinology
• pharmacogenomics
• primary care
• paediatrics
• oncology
• fetal and women’s health
• neurology

NGE will continue to develop this speciality specific content, including information about the Generation Study. In the year ahead it is planned that 5 further specialities will be launched:

• ephrology
• haemato-oncology
• gastro-hepatology
• dermatology
• mental health

The ABPI is working with NGE to provide expert input including access to latest clinical trial information and pharmaceutical updates. A GeNotes app is in development, and a pilot project to syndicate GeNotes content into GP systems is being run in quarter 4 of 2024 to 2025.

Work on the Rare Disease Education Hub, which will include information on non-genetic rare diseases, has continued. This dedicated online portal ​features key facts, definitions and concepts​, an integrated glossary to support understanding​, links to education and training courses and resources for healthcare professionals​ and links to patient and family support. In the year ahead dedicated capacity and expertise in rare disease, including collaborating with Medics 4 Rare Diseases, will support further development of the hub and establish an education network.

NGE continue to work alongside the Academy of Medical Royal Colleges and Medics 4 Rare Diseases to ensure rare diseases, including non-genetic rare diseases, are appropriately integrated into curricula across professions and specialities. On Rare Disease Day in 2023 a rare disease massive open online course (MOOC) was launched on FutureLearn. This includes patient interviews and expert interviews. To ensure the patient voice were incorporated in the development of these resources a patient advisory group for education (PAGE) was recruited through the NGE website and social media channels. Expressions of interest were received and assessed by the NGE panel to ensure coverage across rare disease and cancer. NGE will be launching more online courses over the coming year and continue to ensure rare diseases are embedded into HCP training.

The NGE has advanced work on specific strategies for increasing awareness of rare diseases in the nursing and midwifery, pharmacy and primary care workforce. The primary care GeNotes resource was published in June 2023. NGE continue to work with SystmOne and EMIS primary care systems to embed GeNotes content to guide GPs in considering genomic testing. This work is currently at the exploration and testing stage, with a plan to have GeNotes integrated by quarter 2 of 2024 to 2025.

The Genomics Pharmacy Workforce Strategy, aligned to the key strategic principles of the NGE, was published in January 2024. The activity identified in the strategy will now be taken forward in 2024 to 2025 to develop this workforce further. Medics 4 Rare Diseases will continue to input into the NGE workstreams for the multi-professional workforce including advising the NGE on the development of rare diseases related resources, connecting the NGE to the rare disease advocacy community, enhancing patient and family involvement in the programme, co-producing teaching events for healthcare professionals and examining the dynamic relationship between genomic and non-genomic conditions. This collaboration will continue into early 2024 and it is hoped the partnership will extend into 2024 to 2025.

NGE published the Genomic Competence Framework for Nurses in September 2023, which will continue to be developed throughout 2024 to 2025. The NGE are currently working on the development of a similar educator’s toolkit for the midwifery profession, which will be published early in 2024 to 2025.

To evaluate the impact and uptake of these resources NGE are developing a framework to effectively gather evidence, progress on developing this framework will be published in the 2025 England Rare Disease Action Plan.

A further important contribution to raising awareness of rare diseases among healthcare professionals is through publishing research results in peer reviewed journals. In 2023, NCARDRS has continued its impressive record of publishing, drawing on its unique data sets and working in partnership, to publish a further 4 articles including a paper on the baseline prevalence of neural tube defects and a paper from the MELODY Study which included the participation of over 6000 people with rare autoimmune rheumatic disease (action 9).

​Priority 3: better co-ordination of care

Due to the complex nature of their conditions, many people living with rare diseases will need support from many different parts of the health and social care system throughout their life. Co-ordination of care within the NHS is therefore key to improving outcomes for people living with rare diseases. A definition of co-ordination of care from the CONCORD study can be found in annex C.

Due to the complexity of many rare diseases, care received is often requires the expertise multiple specialities. Box 2 details how NHS England commissions these services.

Box 2: the commissioning of services for rare and very rare conditions by NHS England

Section 3B(1) of the National Health Service Act 2006 creates a power for the Secretary of State to require NHS England to commission services. The Secretary of State does this through regulations. The relevant regulations are the National Health Service Commissioning Board and Clinical Commissioning Groups (Responsibilities and Standing Rules) Regulations 2012. Regulation 11 requires NHS England to commission specified services for rare and very rare conditions.

Within the list of around 150 services for rare and very rare conditions, there are around 80 that are considered to be ‘highly’ specialised. In general, these services:

• are delivered in a small number of expert centres, usually no more than 3, and which have been designated by NHS England
• have small caseloads of patients, usually no more than 500
• are clinically distinct
• benefit from national co-ordination

In summer 2022, a roadmap for integrating specialised services within integrated care systems was published. With the creation of integrated care boards (ICBs) NHS England can now delegate commissioning of specialised services to an ICB or group of ICBs, where it is advantageous to have these services overseen at a more local level. Decisions on this delegation were made in December 2023 and the new arrangements will come into force in April 2024. NHS England will continue to hold responsibility for maintaining an appropriate service specification and standards for each specialised service.

In March 2023 NHS England published its guidance on virtual clinics in highly specialised services, completing action 10 (Box 3). The use of virtual clinics is discussed at all annual clinical meetings. Whilst there has been a movement back to face-to-face appointments, most services are using a ‘blended’ model of virtual and face-to-face clinics.

Box 3: case study on virtual clinics

Virtual clinics give patients access to services they may find difficult to access in person. Heath care providers can speak with patients, provide advice and discuss decisions about their healthcare without the need for travel. This will not limit the use of in-person clinics, local services can support virtual clinics and patients can still travel for more specialised services where needed. Stakeholders have noted virtual clinics offered the benefits of less commuting, less disruption to children’s education, less expense such as travelling costs and, in some cases, they were more relaxing for patients particularly where patients had medical anxiety and other sensory issues. Stakeholders noted it is important that virtual clinics are supported by good quality local care.

When providing virtual clinics, NHS England understands that there are extra considerations care providers need to make. Patients will always have individual levels of need so in some cases face to face assessment will always be necessary. This includes taking into account that some patients may have poor broadband coverage or no smartphone or laptop.

Feedback continues to be taken directly from patients and other key stakeholder groups to constantly optimise the service. It is hoped overall the introduction of virtual clinicals will help patients get a fast diagnosis, improve the co-ordination of care and increase access to specialist care, treatment and drugs.

As set out in action 21, in March 2023 it was agreed that all new and revised service specifications in NHS England for patients with rare diseases (highly specialised and non-highly specialised) include the definition of care co-ordination from the CONCORD study which can be found in annex C. To ensure this positive trajectory continues the numbers and examples of service specifications that include this definition will be monitored. NHS England’s highly specialised services annual clinical meetings now include progress on actions to deliver the UK Rare Diseases Framework, including on co-ordination of care, as a permanent agenda item. New and revised service specifications now also help with care co-ordination by including a requirement for specialist hubs to advise and support local services, building on the success of the Inherited White Matter Disorder model.

To deliver on action 20, DHSC has worked with NIHR to commission research to provide the evidence needed to operationalise better co-ordination of care in the NHS. Following a 2-stage application process, with applications reviewed by an expert panel convened by NIHR, a contract to carry out this research is currently being negotiated between NIHR and the successful applicant. Developed in consultation with the rare diseases community, this research will improve our understanding of the most cost-effective, tractable and impactful approaches to improving co-ordination of care for people living with rare disease, taking into account recent changes to how some NHS services are commissioned. It will specifically address integrating mental health support into rare disease clinical care. Once the contract is in place, the rare diseases community will be informed who will carry out this work via the DHSC on-line platform and UK Rare Diseases newsletter. Milestones for the year ahead will be agreed and published and progress reported to the UK Rare Diseases Forum and in the 2025 England Rare Diseases Action Plan. The research project is expected run for 2 years, concluding in 2026. Outcomes will support decisions on how best to implement cost-effective care co-ordination in the NHS taking into account the differing needs and wishes of people living with rare conditions.

Over the past year, NHS England has continued to work with the NHS England Rare Diseases Advisory Group (RDAG) to review and approve applications for new rare disease collaborative networks (RDCNs). The RDCNs are an important part of NHS England’s provision to improve care, and support patients with rare diseases. Work carried out by RDCNs is detailed in box 4.

Box 4: work carried out by rare disease collaborative networks

RDCNs are made up of groups of providers who have an interest in developing understanding of a particular rare disease and are committed to working together to progress research, increase knowledge and improve patient experience. There are now 20 RDCNs undertaking a wide breadth of work. This has included:

• research (for example the national prospective cohort study in the rare cystic lung disease RDCN, identifying candidate genes in the paediatric and primary lymphoedema RDCN, trials of medication)

• establishing multi-disciplinary teams (both nationally and within trusts)

• international collaboration (for example, with the European Respiratory Society and the European Reference Networks)

Over the next year several RDCNs are aiming to develop databases, continue to support patients through engagement activities and improve their services via feedback and development of clinical guidelines.

National centres for particular rare diseases can allow patients to receive highly specialised care from experts, however when patients are admitted to other hospitals, it is important they still receive high quality care. Box 5 details how data sharing can facilitate appropriate and effective clinical care when patients are hospitalised.

Box 5: case study: Improved data sharing to support co-ordination of care

NCARDRS and the National Amyloidosis Centre (NAC, an NHS England commissioned service) have agreed to a system of 2 way data sharing to support better co-ordination of patient care. Because NAC is a national centre based at the Royal Free, when amyloidosis patients are hospitalised, it is usually at other hospitals. By notifying NAC that their patients have been hospitalised and why, the specialist clinical team can use this information to take appropriate action to facilitate changes to patients’ care where necessary. This is an example of how national registration data can support direct clinical care in a way where the impact on patients can be measured. As NCARDRS collects more data this approach could be expanded to other rare conditions to support the clinical care of patients.

Focus area: co-ordination of care, including transition from paediatric to adult care

In our 2023 action plan we recognised that transition from paediatric to adult care remains a challenge for many young people and families living with rare conditions and set out steps we would take towards addressing this.

In June 2023 we partnered with NICE who designed and led a listening event to better understand how the NICE quality standard on transition from children’s to adults’ services could be adapted to ensure it is relevant to the needs of the rare diseases community. The workshop was attended by 17 people, the majority of whom had lived experience of transition themselves, or as a parent or carer of a young person with a rare condition. Participants considered the quality standard in detail to determine if any changes could be needed to existing quality statements to better reflect the needs of young people with rare diseases and if there were any new areas that should be included in the quality standard. Following the listening workshop NICE updated the quality standard including adding a new statement on a transition plan. NICE published the updated quality standard for consultation in October 2023. The consultation was open for 4 weeks and received 63 responses. Following this feedback NICE updated the quality standard and published a revised quality statement on 14th December. Publication of the revised quality standard was supported by a targeted communications strategy to promote awareness with the rare diseases community and with healthcare professionals more widely.

In addition, NHS England continues to develop its National Framework for supporting young people’s healthcare transition into adolescent and adult services. To improve young people’s experience of care, outcomes and continuity of care, NHS England are committed to moving to a ‘0 to 25 year service model’. Healthcare transition should be need and complexity based, not managed solely on diagnosis or what is routinely provided.

The Children and Young People’s Transformation Programme, along with key stakeholders, are developing a framework to aid the design of transition pathways that improve health outcomes. The guidance will outline what good healthcare transition looks like including the key principles of a 0 to 25 model of care. These principles align to existing guidance such as the revised NICE quality standards. The support package will highlight the core capabilities of staff required for a consistent approach, while ensuring providers have the flexibility to decide which arrangements work best.

Work is underway to develop the evidence base for a rare diseases quality standard. This is being led by an independent advisory group (IAG) established by the UK Rare Diseases Forum. NICE is actively engaged with the IAG and will explore the possibility for the development of a NICE quality standard if an evidence base can be developed to support a standard which is as generic as possible across all rare diseases, measurable and implementable. This work will continue in the year ahead and include engagement from NHS England and NCARDRS.

Focus area: mental health support

In our 2023 action plan we recognised significant challenges exist with access to mental health and psychological support for people living with rare conditions and their families and carers. During this year we have taken steps to further understand the challenges faced and to begin to address them.

In summer 2023 NHS England wrote to emphasise to integrated care boards and providers, that mental health services should be offered based on need and should not exclude anyone because of a particular physical health or neurological diagnosis. We continue to invest to improve access to mental health services. Further detail is provided in the wider policy alignment section below.

All new and revised NHS England service specifications for patients with rare diseases are now required to consider user’s psychosocial needs and ensure co-ordinated pathways for access to mental health support. In addition, as part of the public consultation held on the revision of the clinical genomics service specification, it was recognised there is variable, frequently limited, access to clinical psychology to support clinical genomics provision. As part of the implementation of the revised service specification, which will take place over a phased 4 year period, NHS England’s Genomics Unit will work with mental health commissioning colleagues to assess options for ensuring increased access to clinical psychology for clinical genomics services.

National Genomics Education are working on several resources to educate the workforce in mental health and psychological services to support those living with rare conditions, their families, and carers. This has included establishing a GeNotes psychiatry working group to develop content in both the genetics of mental health and the psychological requirements and implications for people living with rare diseases. NGE will host a number of webinars in quarter one of 2024 to 2025 which will address these issues. A communication skills suite of resources is currently being developed, with a number of patient representatives and rare diseases organisations involved in an expert reference group to advise on needs and development. NGE will consider within this package signposting clinicians to specialist services, not just genetics but also mental health. Work will be undertaken to further develop this resource throughout 2024 to 2025.

In addition, NGE’s clinical pathway initiative approach will enable patient pathways to be mapped through clinical services and help determine touchpoints for healthcare professionals and specialists. NGE are committed to making this workforce agnostic and looking at potential in all genomic related patient journeys for points when mental health or psychological input is required. This will enable the competencies required for these professionals to be determined and for any gaps in education and training to be addressed.

In October DHSC held a workshop, in partnership with a research team from University College London Great Ormond Street Institute of Child Health on access to mental health services for children and young people living with rare conditions. The workshop was held virtually and was attended by 38 people representing members of the rare disease community, carers, patient support groups, academia and clinicians. Participants heard about: a study on mental health in children with an intellectual disability of genetic origin; the use of acceptance and commitment therapy for people living with tuberous sclerosis complex and about the approach being taken at the new Cambridge Children Hospital to integrate mental and physical health as well as about the lived experience of a parent caring for a child with a rare disease.

The workshop highlighted that generally the provision of mental healthcare to children, young people and families living with rare conditions is poor. It was noted that improved co-ordination of care across health, social care and education sectors could improve mental health care for this population. The group noted patients can slip through the net of mental health support due to the complexity of their conditions, mental health support needs to be provided regardless of this complexity or alternatively care providers must be educated about this complexity so they can meet the needs of children and young people living with rare conditions.

A summary of the workshop is available at annex F.

Priority 4: improved access to specialist care, treatment and drugs

Many rare diseases do not have established treatments and therefore once new drugs are granted a marketing authorisation, and deemed clinically and cost effective by NICE, it is important patients can access them as soon as possible. NHS England is working with partners at MHRA, NICE and with industry to continue to secure rapid patient access to innovative treatments (actions 11 and 12). This includes using a ‘preparedness template’ with industry to develop a shared understanding of the service implications for new drugs approved by NICE. To date at least 10 templates have been completed by companies to inform NHS England of the service requirements of their treatments, so patients benefit as early as possible. Additionally, a proposed strategic approach to commissioning advanced therapy medicinal products (ATMPs) has been developed, discussed^{[footnote 1]} and communicated to stakeholders at numerous events. This included at a workshop hosted by the Advanced Therapy Treatment Centres, summarised in their December 2023 report.

The Highly Specialised Commissioning Team in NHS England have analysed the uptake and geographical equity of drugs (action 14). In the majority of cases, overall uptake exceeded or was in line with anticipated uptake (in 13 of 16 cases). In 2 of these cases, there were valid clinical and patient choice reasons why uptake was not as expected. There was equitable geographical access in 9 out of 10 drugs that could be measured. To ensure that access to wider services, as well as drugs are considered, this year NHS England will measure the geographic spread of patients accessing highly specialised services (see action 36 below).

NHS England has taken steps to continue to improve the understanding of the impact of NHS England’s specialised services commissioning activities on rare disease patients (action 23). The terms of reference of the NHS England Rare Diseases Advisory Group (RDAG) have been revised so that they now consider all policy propositions for patients with rare diseases, with 12 reviewed since our last action plan. Patient Impact Assessments are now considered in the development of all relevant commissioning policies and RDAG has assessed 47 of these over the past year. All highly specialised services have clinical outcome measures, which are monitored on an annual basis some of which are patient reported outcome measures (PROMs) specific to each condition.

During this year 3 schemes that support patient access to innovative treatments were reviewed (action 25) for their effectiveness in improving access to medicines for people living with rare conditions: the Early Access to Medicines Scheme (EAMS), the Innovative Licensing and Access Pathway (ILAP) and the Innovative Medicines Fund (IMF).

As of January 2024, ILAP partners have awarded 44 innovation passports for innovative medicines developed to treat rare diseases. 23 of these innovation passport holders have progressed to the Target Development Profile. One of the early recipients of an Innovation Passport was pegunigalsidase alfa, a treatment developed by Chiesi for treating Fabry disease (also known as alpha-galactosidase deficiency) in adults. ILAP will continue to support accelerated access to treatment for those living with rare diseases. ILAP partners are currently refreshing the existing operating model to ensure that it is delivering on the ambition to support rapid patient access to transformative new medicines to be launched in quarter one 2024 to 2025. The MHRA has established a group of industry stakeholders to help inform the approach in advance of introducing any changes to ILAP.

Over 700 patients have received drug treatment through the EAMS, for 12 indications. One of these drugs initially available through EAMS was risdiplam which, together with 2 other treatments for SMA (nusinersen and onasemnogene abeparvovec) are now available to NHS patients following NHS England striking 3 commercial deals in less than 3 years for all 3 SMA drugs. The outcome has contributed to nearly 3 in 4 babies born with a rare muscle-wasting disease now living beyond the milestone of their second birthday, with optimism that life expectancy and quality of life for children with SMA will continue to improve.

Box 6: EAMS support for risdiplam for treatment of spinal muscular atrophy

The aim of the Early Access to Medicines Scheme (EAMS) is to provide earlier availability of promising new unlicensed medicines (medicines that do not have a marketing authorisation or are used outside their licence) to UK patients that have a high unmet clinical need. The medicines included in the scheme after they have received a positive scientific opinion are those that are intended to treat, diagnose or prevent seriously debilitating or life-threatening conditions where there are no adequate treatment options.

There are 4 EAMS criteria that need to be fulfilled before a medicine can enter the scheme and a positive scientific opinion is issued by the MHRA:

• it is used to treat a life threatening or seriously debilitating condition and there is a high unmet need: existing methods/licensed medicines have serious limitations
• the medicinal product offers major advantage over existing methods in the UK
• the potential adverse effects of the medicinal product are outweighed by the benefits, allowing for a conclusion of a positive benefit and risk balance
• the company is able to supply the product and to manufacture it to a consistent quality standard, including the presence of appropriate GMP certification

This criteria was fulfilled and therefore EAMS recommended risdiplam to treat patients 2 months of age and older with type 1 or type 2 of a genetic disease called ‘spinal muscular atrophy’ (SMA) who are not suitable for authorised treatments.

The third scheme, the IMF, was established to provide access to innovative new medicines where there is uncertainty regarding the level of clinical benefit whilst further data is collected to address this uncertainty.

Since its inception in June 2022, there have been 15 rare disease treatments (non-cancer orphan drugs) entering the NICE process that were potentially eligible for the IMF. All 15 were assessed by the NICE Managed Access team for suitability for the IMF. For 10 of these, the company did not consider the IMF appropriate. As of January 2024, 4 of 10 rare disease treatments not considered appropriate for the IMF by the company had received a positive recommendation and entered routine commissioning with the appraisal process still in progress for the remaining 6. Of the remaining 5 treatments where the company wanted to consider the option of IMF, 4 are still in process and one has had a recommendation for routine commissioning. In addition, 2 rare disease treatments have been provided earlier to patients via interim funding from the IMF. This ensures eligible patients receive drugs earlier than they would otherwise, potentially making huge differences to their health outcomes. NHS England and NICE continue to work in collaboration to monitor potential managed access indications, though it should be noted that IMF entry requires the support of the drug’s manufacturer.

This data analysis describes the amount of rare disease treatments progressing through these access pathways, giving an indication of how effective they are. To understand the experience of the pharmaceutical industry in engaging in these schemes we worked with ABPI and the BioIndustry Association (BIA) to conduct a survey of their members. 20 responses were received from a range of companies. Overall, the EAMS scheme was seen as beneficial in some circumstances, however, some companies reported having made an active decision not to apply to the scheme. Experiences with ILAP had been less positive, although overall responding companies could still see significant benefit of building better system alignment of processes and partners through the access journey. There had been limited experience from companies of engaging with the IMF, again with some having made an active decision not to apply. Across all 3 schemes companies provided useful information about their experiences and the rationale underlying their decisions and made constructive suggestions for improvement. NHS England, MHRA and NICE will analyse the results of the survey in more detail, meet with ABPI and BIA to discuss the survey, and provide a written response. Action 25 will remain open with further progress being reported in the 2025 England Rare Diseases Action Plan.

Alongside the use of novel treatments the Medicines Repurposing Programme identifies and progress opportunities to use existing medicines in new ways, outside the current marketing authorisation. The programme offers tailored support to applicants, which might include building further clinical evidence for a treatment, facilitating licensing and/or promoting other actions that enable extended patient access. The programme secured its first licence variation for anastrozole in November 2023, an important step for the programme to demonstrate the novel approach to licensing new uses of existing medicines.

There is currently one medicine for a rare condition being supported through the programme: Metformin. Metformin, a licensed diabetes drug, could potentially be used to treat the genetic condition tuberous sclerosis complex (TSC). Following a request from the Repurposing Programme, an application for research funding is being considered by NIHR.

Healthcare professionals, companies and voluntary-sector organisations are welcome to propose candidate medicines to the programme through the eligibility criteria and proposal form.

In 2022 NICE made significant changes to their methods and processes. It is important that these changes are effective in supporting the rapid adoption of medicines for NHS patients with rare diseases and NICE has committed to assessing this (action 13). Due to length of the timeline of the medicines evaluation process and number of rare disease topics using older methods or processes, the analysis of the impact of changes will take some time to assess. Data is being collected which will allow, for example, the percentage of positive NICE recommendations made following old compared with new methods and processes for rare diseases to be assessed. NICE will be in a position to publish the impact of 2022 manual changes in a report by the end of 2024. Results of the ABPI and BIA survey of their members, described above, will be considered as part of this analysis, focusing on information about companies’ experiences of NICE technology appraisals. In 2024, NICE also plan to review the criteria for determining whether a medicine should be routed to its highly specialised technologies programme for the evaluation of very rare diseases.

Alongside changes to improve access to treatments NICE is currently reviewing its accreditation programme (a programme to endorse other guidelines) to consider how best to adapt this for the future and enhance collaboration with other guidance-producing organisations nationally and internationally. It is hoped this will improve access to specialist care. Further information will be published on this during the first half of 2024.

Understanding patient data will facilitate access to treatments and care for patients. NCARDRS collects data on people with rare diseases. In the 2023 action plan we committed to improving the ‘findability’ of people living with rare diseases using NCARDRS (action 22). NCARDRS collects data from a variety of sources to support rare disease registration, including from 8 highly specialised services currently to support rare disease registration. Discussions are underway with other highly specialised services to establish dataflows. A rare disease prevalence tool is under development and a first iteration of this will be published in early 2024 where stakeholders will be asked to provide feedback. This tool will increase transparency and improve understanding of the rare diseases currently captured by NCARDRS, including prevalence figures and the underpinning data sources. A digital patient self-reporting interface was developed but unfortunately taken down shortly after launch due to issues with platform compatibility. As an interim solution an email-based self-reporting mechanism is in place to allow patients to self-report and facilitate ‘findability’ - 105 patients have self-referred at the time of publication. Over the coming year NCARDRS aims to re-establish a digital self-reporting platform and publish their rare disease prevalence tool.

NCARDRS has recently been incorporated into NHS England, further contributing to a period of sustained organisational change since 2021. It is expected that this recent change will provide new opportunities and increased collaboration with other NHS England services. NCARDRS continues to explore new innovative ways of working to ensure outputs are clinically-relevant, stakeholder-driven and reproducible/scalable wherever possible.

Several peer-review publications have been published in 2023 demonstrating the power of national disease registration data. These include a paper giving baseline prevalence of neural tube defects, allowing for measuring the impact of folic acid fortification of flour in the primary prevention of these conditions. NCARDRS continues to produce output on non-genetic rare diseases in collaboration with academic and clinical partners, including the first paper from the MELODY Study which includes participation over 6000 people with rare autoimmune rheumatic disease.

In 2023, the action plan committed to improving registration of national data for exemplar rare genetic conditions which cause an inherited predisposition to cancer (action 26). This action is being led by NCARDRS, building on the success of the national Lynch syndrome registry which was launched in 2023 to support identification and enrolment of these individuals into the national bowel cancer screening programme. Meetings with various stakeholders, including the NHS England Cancer, Genomic and Screening programmes and the UK Cancer Genetics Group (UKCGG), have led to a gene list for inclusion in the register being created with a particular focus on genes which lead to a predisposition of breast cancer. In 2024 the register will start to be formed by targeting this initial set of genes. Following on from this, new genes will be added to the list in consultation with UKCGG and other key stakeholders.

Improvements in services improving access to specialist care, treatment and drugs must continue. A Highly Specialised Services Oversight Group has been established (action 24) which will strengthen NHS England in commissioning highly specialised services and wider services for patients with rare diseases. The group has been running formally since May 2023.

Be Part of Research is an online service that helps members of the public understand what research is, what taking part might involve, as well as helping people find research studies and volunteer to take part. In the 2023 action plan we committed to engaging with the rare diseases community to seek their feedback on the platform so that it could be improved to better meet their needs (action 27). A survey was circulated to understand how people with rare conditions would prefer to search for their condition on the platform. A summary of results can be found in annex E. The survey received over 200 responses from people living with rare conditions and people caring for somebody living with a rare condition. Several recommendations were made as a result of this survey, categories of conditions should be more comprehensive including a specific category or subcategory for paediatric conditions, navigation of the platform needs to be optimised to improve usability. At least one member of the rare disease community would be included in future research for development of the service to ensure the patient voice is heard. The rare disease community were invited to take part in private beta phase testing of the Be Part of Research platform user interface and a Genetic Alliance UK representative now sits on the Be Part of Research Advisory Group. Findings from this survey and testing are going to be implemented over the coming year.

Focus area: improving clinical research delivery for rare diseases

Clinical research is an important part of the pipeline in the development and approval of new treatments and drugs. Commercial clinical research is an important part of this picture and in November 2023 we published a full response to the Lord O’Shaughnessy review into commercial clinical trials. The report integrates Lord O’Shaughnessy’s recommendations into a current programme of work to implement a bold and ambitious 10-year vision, Saving and Improving Lives: The Future of UK Clinical Research Delivery.

As part of the new UK Rare Disease Research Platform funded by NIHR and MRC (see section on pioneering research) there work is underway to improve clinical research for rare diseases: The CAPTIVATE node (changing clinical practice in rare diseases through innovative trial designs), led by the University of Birmingham, will bring together the UK’s leading trial experts with hospital researchers experienced in rare diseases, industry partners, regulators, policy makers and patient partners, to develop better ways to test new medicines for adults and children, which up until now has been hard to do because there may only be a few people affected with the disease who are able to take part in clinical trials. The CAPTIVATE node will develop new and innovative trial design and methodology, enhancing the approach to clinical trials for rare diseases.

Underpinning themes

Patient voice

It is vital that our policy continues to be shaped by the needs and experiences of those living with rare conditions. With this in mind we, and our delivery partners, have consulted with the community throughout action plan development.

The rare diseases patient and clinician communities are represented on all our governance boards, and we engage with a broad range of stakeholders through the UK Rare Diseases Forum and online platform, providing opportunities for discussion and feedback. The call for proposals to form Independent Advisory Groups (IAGs) remains open. All 4 UK nations have committed to formally recognising IAGs, considering their outputs, and reporting back how their feedback has been used. During this year the first IAG, as set out in the section on co-ordination of care, including transition from paediatric to adult care, has continued its work towards the development of quality standards for rare diseases.

This year we have continued our partnership with Genetic Alliance UK to host a standing, England Rare Diseases Action Plan Patient Advisory Group, which has been consulted throughout the drafting of this action plan. Their input was shared with the England Rare Diseases Framework Delivery Group and has been central to shaping the action plan.

In November DHSC hosted a focus group session, with Breaking Down Barriers (a network of over 70 organisations working together to improve the lives of families from diverse and marginalised communities) to explore how health inequalities experienced by people from diverse and marginalised communities affected by rare conditions are being addressed in England’s action plans. This focus group looked at progress over the past year and identified opportunities for further improvements. Attendees identified that people living with rare conditions need a holistic approach to care and support, accessible and inclusive resources and be able to develop and maintain trust in healthcare providers. A report of this focus group meeting is available on the Breaking Down Barriers website.

Each of our delivery partners have their own programmes of stakeholder engagement. All actions for the coming year place patient voice centrally, drawing on their wealth of knowledge and experience to shape services, design meaningful research, and ensure we measure what matters most to people living with rare diseases.

National and international collaboration

The small numbers of people with individual rare diseases make collaboration essential. The UK is committed to building national and international connectivity so that data and expertise can be shared for benefit of people living with rare diseases. We continue to offer our support to the World Health Organization (WHO) and Rare Diseases International as the Global Network for Rare Diseases (GNRD) moves towards its first phase in 2024. The GNRD envisions a world where all people living with rare diseases, no matter where they live, have access to timely and accurate diagnosis, as well as to safe and reliable quality care. The goal of the GRDN is to bring together existing expertise in diagnosis, care and treatment, as well as generating new knowledge, through healthcare, education and research. The GRDN will gather regional networks of expert centres and cluster rare diseases by therapeutics areas. One key function of the GNRD will be to enable cross-border virtual advice and consultation through a digital platform.

In September 2023 the Prime Minister announced that the UK will be participating as a fully associated member in Horizon Europe (the world’s largest programme of research cooperation) for Horizon Europe projects funded from the Horizon Europe 2024 budget onwards, for the remaining life of the programme to 2027. We have continued to engage with the Horizon Europe Partnership on Rare Diseases, due to begin in autumn 2024 with several UK organisations involved in drafting work packages and expected to participate, funded by the UK government’s Horizon Europe Guarantee. Launched and co-ordinated by Newcastle University, the International Mirror and Action Group has continued to meet to support participation of UK researchers across international initiatives on rare diseases.

The NGE is committed to working collectively with global partners. Following a successful International Genomics Education and Training Summit held in November 2023 the NGE will work alongside those 49 countries present to develop global networks and frameworks, share resources and establish an infrastructure to inform and influence investment and collaboration.

DHSC continues to work closely with the devolved administrations to ensure policy is aligned across the UK, and that we learn from progress made by all nations. Our high-level strategic co-ordination group, the UK Rare Diseases Framework Strategy Board has held 2 meetings, which included deep dive discussions on patient voice, faster diagnosis, pioneering research, improving access to specialist care, treatment and drugs and the impact of the cost of living crisis. All of these topics had previously been discussed by the UK Rare Diseases Stakeholder Forum and their feedback was fed into discussions by the chair of the group.

Throughout this year we have continued to discuss Rare Disease UK’s Recommendations for the Rare Disease Action Plans report. Prompted by these recommendations, we have shared valuable learning across the 4 nations on topics including on putting in place a clinical lead for rare diseases, celebrating rare diseases day in the NHS and approaches taken to provision of SWAN services. We have taken a UK-wide approach wherever possible, including for example, through our work on the UK Rare Diseases Research Landscape Report and the workshop, held in September on non-genetic rare conditions.

Pioneering research

In September 2023 the NIHR published the UK Rare Diseases Research Landscape Report in collaboration with MRC, industry, charities and the devolved administrations. It covers a 5-year period from 2016 to 2021, presenting an overall picture of the rare disease research taking place across the UK, where it was happening and who funded it (Box 7). A unique search algorithm was developed to identify research on specific rare diseases, based on those listed on Orphanet. The search protocol and the data underpinning the report have been published on NIHR Open Data. Publication of the landscape report completes the first stage of action 15. During the coming year we will work with the rare diseases community on a second phase of this project to identify research gaps and priorities. We will continue to work with research funders to feed this information back and seek to influence funding policy.

Box 7: UK Rare Diseases Research Landscape Report

The NIHR programmes and MRC rare disease research portfolio contained almost 700 awards, with a total value of nearly £630 million.

Over 500,000 participants were recruited to take part in NIHR Clinical Research Network studies with sites distributed across the UK.

The Association of The British Pharmaceutical Industry and the BioIndustry Association identified over 250 industry research and development (R and D) projects on rare diseases with projects spanning all phases of R and D.

The Association of Medical Research Charities (AMRC) identified over 2,300 rare disease research awards funded by charities with a total value of over £580 million.

Motor neuron disease, Huntington’s disease and cystic fibrosis were amongst the most researched rare conditions. There were a small number of rare conditions with a large amount of research and many rare conditions with no funded research. Annex D provides a list of the 30 Orphanet disease names associated with the highest number of awards in the NIHR MRC rare disease research portfolio.

Within the NIHR programme and MRC portfolio, most awards mapped to priorities one and 4 of the UK Rare Diseases Framework, with a much smaller number of awards on priorities 2 (awareness) and 3 (co-ordination of care).

In July 2023 the outcomes of the MRC NIHR funding call for the UK Rare Disease Research Platform were announced, a £14 million investment over 5 years (Box 8). The platform is made up of 11 UK-wide research nodes and a co-ordinating hub. The nodes are based at universities across the UK and will be responsible for specific research projects. The hub - a partnership between Newcastle University, The Newcastle upon Tyne Hospitals NHS Foundation Trust and Genetic Alliance UK - is responsible for co-ordination of the platform. The platform will facilitate greater collaboration between academic, clinical and industry research, and people living with rare diseases, research charities and other stakeholders, to accelerate the understanding, diagnosis and therapy of rare diseases.

Box 8: the 11 nodes of the UK Rare Disease Research Platform

1. Epigenomics Rare Diseases (EpiGenRare)

2. mTOR Pathway Diseases

3. Changing clinical practice in rare diseases through innovative trial designs (CAPTIVATE)

4. Histiocytic Disorders (HistioNode)

5. Lipidomics and Metabolomics

6. Ethical Legal and Social Issues in Rare Conditions Research and Clinical Practice (ELSI)

7. Early Assessment, Diagnosis and Treatment of Parkinson’s Plus Related Syndromes (ExPRESS)

8. Rare Early Onset Lower Urinary Tract (REOLUT)

9. Renal Ciliopathies National Network (RCNN)

10. Cardiovascular Rare Disease

11. UK Platform of Nucleic Acid Therapy for rare disease treatment (UPNAT)

Separately the NIHR Academy Programmes has active agreements to co-fund fellowships in research charities for rare diseases including the Cystic Fibrosis Trust, Motor Neurone Disease Association and Stroke Association. This has been set up in a bid to speed up the discovery of new treatments and insights into rare diseases. In addition to this, in October 2023, DHSC alongside the Department for Science Innovation and Technology (DSIT) pledged £50 million into motor neurone disease research over the next 5 years.

NIHR infrastructure supports the health system’s ability to turn scientific discoveries, including in rare diseases, into new or improved treatments and services. NIHR infrastructure includes the Biomedical Research Centres (BRCs) and Clinical Research Facilities (CRFs), which are based in NHS Trusts across England. The NIHR BRCs bring together academics and clinicians to translate scientific breakthroughs into potential new treatments, diagnostics and medical technologies.

Box 9: Biomedical Research Centre case study

Thousands of parents now know the genetic cause of their children’s severe developmental disorders thanks to a pioneering study supported by the NIHR Cambridge Biomedical Research Centre. As a result, children are getting better treatment and parents are able to connect with others who have had similar experiences.

The Deciphering Developmental Disorders (DDD) study is a collaboration between the NHS and universities funded by the Department of Health and Social Care through the NIHR and the Wellcome Sanger Institute funded by Wellcome. The study included more than 13,500 families from 24 regional genetic services across the UK and Ireland and provided a diagnosis for 5,500 families; it helped to discover 60 new conditions.

NIHR Clinical Research Facilities (CRFs) are part of the NIHR research delivery infrastructure enabling rare disease clinical trials across England.

Box 10: NIHR Manchester Clinical Research Facility

A treatment for Wolman disease is now available in England following clinical trials at NIHR Manchester Clinical Research Facility (CRF).

Wolman disease affects one or 2 babies born every year in England. Babies with this rare genetic disorder do not produce an enzyme that is required to break down fats in the body. Previously the NHS had no treatments for Wolman disease and infants would normally die before their first birthday.

Following phase 1 and 2 clinical trials at Manchester CRF, NICE has recommended the enzyme replacement therapy sebelipase alfa for use by the NHS for the treatment of Wolman disease. The life-saving treatment is being fast-tracked to be available to eligible patients, funded via NHS England’s Innovative Medicines Fund (IMF).

The NIHR BioResource comprises more than 250,000 recallable volunteers, with and without health conditions, who have consented to participate in research investigating the links between genes, the environment, health and disease. This includes 3,505 new rare disease patients and relatives across 55 different rare diseases recruited into the Rare Diseases BioResource in 2023, taking the total to more than 25,000. This is made possible through a network of recruitment sites that included 44 different NHS trusts in 2023. By screening participants for genes and/or phenotypes of interest, rare disease research that may have otherwise proven too costly or time-consuming is made possible.

Box 11: NIHR BioResource sickle cell and thalassemia case study

Patients with conditions such as thalassemia or sickle cell disease require regular blood transfusions, but these transfusions can sometimes cause dangerous side effects because of inadequately matched blood. The main source of blood for transfusions are people with European ancestry, but sickle cell disease predominantly affects people from African and Caribbean backgrounds, and approximately 17,000 people in the UK have the disease. Thalassemia mainly affects people of Mediterranean, south Asian, southeast Asian and Middle Eastern origin. Over 800 people in the UK are living with thalassemia.

NIHR BioResource has contributed to the development of new methods of blood matching that will help thousands of patients living with sickle-cell disease or thalassemia receive the best treatment, reducing the risk and impact of reactions to donor blood and the development of antibodies that attack the donor blood cells. Working with NHSBT and an international Blood Transfusion Genomics Consortium (BGC), NIHR BioResource helped develop the testing array that makes this new genotyping programme possible. NIHR BioResource has supported successful early clinical trials using red blood cells grown from human blood cells in the laboratory. This research marks a significant step in using lab grown red blood cells to improve treatment for patients with rare blood types or people with complex transfusion needs.

From 2023, NHS England has funded 8 NHS Genomic Networks of Excellence to transform the way in which genomics is delivered across the country through generating evidence and developing models for adoption within the NHS. The NHS Genomic Networks of Excellence are designed to be partnerships between the NHS, academia, the third sector and industry to leverage expertise and resources from the broader genomics ecosystem and are covering a range of strategic priorities, including prenatal testing, circulating tumour biomarkers, haemato-oncology, rare and inherited diseases, severe presentation of infectious diseases, cardiovascular disease, artificial intelligence and pharmacogenomics.

The self-funded, not for profit medical research organisation LifeArc has announced a significant investment through its Rare Disease Translational Challenge which will see it invest £100 million into rare disease research by 2030.

Box 12: LifeArc Centres for Translational Rare Disease

The translational medical research charity LifeArc announced, in 2023, the intention to commit up to £40 million to fund several centre awards and a co-ordinating hub to accelerate rare disease research from the fundamental understanding of disease towards delivering impact for patients. The charity engaged extensively with the UK research community and hosted an applicant’s workshop in summer 2023 to facilitate maximum co-ordination across the UK. The funded centres are all collaborations involving multiple UK universities and will address subsets of rare disease in a systemic way as well as to provide platforms that will be useful across the rare disease research ecosystem. The intention is that the new centres will collaborate extensively across the UK and around the world to enable maximum benefit to be delivered for the benefit of patients. Funding decisions have now been made and further details will be released later in 2024.

Digital, data and technology

Secure, linked data sets containing standardised, interoperable data can be used to improve diagnosis, locate consenting individuals for research, improve co-ordination of care, and obtain information on the prevalence and distribution of rare diseases.

During the course of this year, work has continued under the Data Saves Lives strategy, with a policy update published in October 2023. Work is underway to support NHS research data infrastructure and data enabled clinical trials, including in genomics, and national and sub-national secure data environments (SDEs). In May 2022 the Data for R&D Programme Business Case was approved.

The 3 programme objectives are, by March 2025, to:

• make research-ready data rapidly accessible through the NHS Research Secure Data Environment Network
• speed-up large scale clinical trial delivery through NHS DigiTrials
• establish a model of future generation of value for the NHS

Under objective one, 2 genomics driver projects have been initiated by Genomics England and by the University of Cambridge, with both due to formally report back on project outcomes in April 2024.

NHS England are making progress against the NHS Genomics Strategy priorities to enable genomics to be at the forefront of the data and digital revolution. An NHS Genomics Data and Digital Steering Group has been established to oversee development of the NHS Genomics Data and Digital Framework outlining how the NHS GMS will deliver the data and digital commitments, including through 3 key workstreams;

• digital test directory
• genomic order management
• unified genomic record

Focus area: registries

Rare disease registries were a focus area in the 2023 action plan. Over the past year the registries of all 4 nations of the UK have continued to meet regularly to share best practice and agree consistent approaches. Following the move of NCARDRS into NHS England and the impact of sustained organisational change, we took the decision to postpone the planned follow-up workshop on future opportunities until 2024 to 2025. It remains a policy priority to stabilise and maximise the potential of this important service and its abilities to collect, securely hold and maximise the uses of its crucial data set.

Despite these challenges, NCARDRS has played an important role in delivering a number of actions, working collaboratively with other delivery partners and towards enabling people living with rare conditions to self-report. NCARDRS is working with 4 nodes of the UK Rare Disease Research Platform to support their work. During this year we have begun work to explore the potential for MRC and NIHR to require researchers to report relevant rare disease data to NCARDRS (or other national registry) as a condition of funding. We will continue to work towards this in the year ahead.

Epidemiological research, working in partnership with researchers and charities, and the publication of research in peer reviewed journals remains an important function of NCARDRS as noted in the section on improved access to specialist care, treatment and drugs.

Wider policy alignment

While the framework and action plan represent the government’s primary commitments to the rare disease community, they are also closely aligned with wider initiatives.

In summer DHSC published our initial report Major Conditions Strategy: Case for change and our strategic framework. It sets out what we have learned so far, and shares what we plan to focus on next to develop the final strategy. The intention is to publish the Major Conditions Strategy in 2024. DHSC recognises the need to take a holistic approach to mental and physical health, adapt systems to manage complexity and co-ordinate clinical support across primary, community and secondary care. DHSC remain committed to delivering the commitments set out in the NHS Long Term plan to expand and transform mental health services in England so that 2 million more people, including people with rare conditions, can get the mental health support that they need. To support this, DHSC are investing at least £2.3 billion of additional funding a year by March 2024 compared to 2018 to 2019. The Major Conditions Strategy will sit alongside the Rare Diseases Framework. Challenges with effective co-ordination of care are often shared by people living with multiple major conditions and those with rare conditions and in some cases common solutions may be found. Aligning work across several groups of conditions will allow the MCS to focus on where there are similarities in approach and ensure care is better centred around the patient, including for those with rare forms of cancer.

In June 2023, the NHS Long Term Workforce Plan (LTWP) was published setting out the steps the NHS and its partners need to take to deliver an NHS workforce that meets the changing needs of the population over the next 15 years. It will put the workforce on a sustainable footing for the long term. The government is backing the plan with over £2.4 billion over 5 years to fund additional education and training places. This is on top of increases to education and training investment, reaching a record £6.1 billion over the next 2 years. By significantly expanding domestic education, training and recruitment, there will be more healthcare professionals working in the NHS. This will include more doctors and nurses alongside an expansion in a range of other professions, including more staff working in new roles.

The LTWP sets the ambition to:

• double medical school training places to 15,000 by 2031 to 2032, with more medical school places in areas with the greatest shortages to level up training and help address geographical inequity
• increase the number of GP training places by 50% to 6,000 by 2031, almost double the number of adult nurse training places by 2031, with around 58,000 nurse and midwife training places a year by 2031 to 2032
• increase the number of allied health professionals to 18,822 by 2031

Improving culture, leadership and wellbeing to ensure up to 130,000 fewer staff leave the NHS over the next 15 years. Together this will result in improved care for everyone drawing on the NHS, including people living with rare conditions.

Alongside upskilling the current workforce, NHS England has taken steps to increase the number of genomic counsellors (GCs) entering the Scientists Training Programme (STP) over the last 2 years and provided Practice Educators to facilitate their training. The development of genomic associates and practitioners will provide a pipeline of staff gaining experience to either enter a GC STP or work through the equivalence route of training. The ongoing NHS England commissioned workforce profiling and redesign work is reviewing the skillset requirement and competencies needed to support patients and will feed into the design of the Clinical Genomics Service moving forward. As set out above the National Genomics Education Programme plays an important role in ensuring that healthcare professionals caring for people with rare conditions have the skills and the resources they need.

Improving the lives of those living with rare diseases goes beyond healthcare, encompassing a range of public services, including support for physical and learning disabilities. It is important these needs are considered holistically. A number of policy initiatives supporting people with disabilities have recently been progressed over the last year. The highly accessible consultation on the draft Disability Action Plan closed on 6 October 2023 and over 1,300 responses were received and independently analysed. On 5 February 2024, the government published the final Disability Action Plan together with the independent analysis of the consultation findings. The Disability Action Plan sets out 32 practical actions which the government will take forward over the next 12 months with disabled people, disabled people’s organisations, and other government departments and public service providers. It will sit in parallel to the National Disability Strategy, published in 2021, setting out a complementary, ambitious programme of work across government to improve disabled people’s lives in the short, medium and long term. Importantly for people living with rare conditions and their families, provision of support for disability should be based on an assessment of need, removing barriers associated with disease or diagnostic status.

One way people living with rare diseases and disability are being supported is through the Down Syndrome Act 2022. The Down Syndrome Act 2022 became law in April 2022. The act aims to ensure that health, social care, education and other local authority services take account of the specific needs of people with Down syndrome when commissioning or providing services. DHSC have analysed the data received through a national call for evidence and are using this to support the development of guidance for relevant authorities on how they should meet the needs of people with Down syndrome. A report on the call for evidence findings will be published as soon as possible. DHSC will continue to work closely with stakeholders to develop the guidance and expect to issue it for consultation as soon as possible this year. The guidance will be published at the earliest opportunity following the consultation. As committed to during the Act’s passage through parliament, the government is exploring where the guidance could have wider benefit, including for people with other genetic conditions and/or learning disability.

In 2020, the government published its 10-year strategy for genomic healthcare and research, Genome UK: the future of healthcare, which sets out the government’s vision to create the world’s most advanced genomic healthcare ecosystem in the world to deliver better healthcare at lower cost. A key commitment in Genome UK was to offer all patients with a rare genetic disorder a definitive molecular diagnosis using tests that will support research into their condition wherever possible.

Three years on from the publication of Genome UK, the government has made great strides in delivery and announced £175 million of new funding for genomic research in December 2022. This included £105 million for the Generation Study mentioned under Priority 1: helping patients get a final diagnosis faster.

Health equity

People living with rare conditions and their families can face significant barriers to accessing the care and support that they need. Equity is a central tenet of the UN General Assembly resolution on persons living with a rare disease first agreed in 2021 and updated in November 2023.

In October 2023, the Specialist Healthcare Alliance (SHCA) published a report: Rare diseases, common inequalities: Bringing rare diseases into the health inequalities agenda, setting out a range of inequalities experience by people living with rare conditions, including access to care, medicines and wider services. During this year, we have begun work to assess whether there is sufficient existing evidence to support the inclusion of rare diseases in the NHS England Core20PLUS5 framework (action 28). Core20PLUS5 is the NHS England approach to inform action to reduce healthcare inequalities at both national and system level. We have begun work with NIHR to scope the literature and possible approaches to review questions for an evidence synthesis around access to services and health inequalities. An advisory group has been established, with representation from people with lived experience and a search protocol has been developed. The scoping review will be completed by the end of 2024 and if there is sufficient evidence, we will commence an evidence synthesis which will aim to report in the early part of 2025. The findings from this work will be reported in the 2025 action plan and will help determine whether integrated care boards can develop targeted actions to reduce health inequalities associated with aspects of inequality for people living with rare conditions.

As outlined in the NHS Genomics Strategy, an ethics, equity and legal advisory group has been established to provide expertise to consider ethical and legal themes within the NHS Genomic Medicine Service (GMS) while also ensuring that the NHS GMS provides equitable access to all patients. The group will consider the end-to-end pathway, from the identification of patients for testing and access to services to the point of returning results and downstream care, as well as on research and innovation activity and the identification of appropriate data sets to inform a health inequalities analysis of NHS GMS activity. A working group has been established within NHS England to explore demand modelling and equity of access to non-WGS testing indications where data is available and this scoping will continue into 2024 to 2025. NCARDRS is supporting the NIHR funded EXPRESS (Optimising EXome PREnatal Sequencing Services) study to establish the outcomes of the recently-introduced prenatal exome sequencing service including identification of any factors associated with inequalities. The overlap between the conditions list that has been published for the Generation Study and the rare conditions prevalence data collected by NCARDRS could be mapped and an evaluation of the feasibility of mapping this data will be completed by February 2025.

Focus area: monitoring and evaluation

Our final focus area of the 2023 action plan was monitoring and evaluation. The new actions introduced every year are each underpinned by a logic model, describing the outputs and outcomes that will be delivered, and the metrics used to measure progress. As in previous years, the England Rare Diseases Framework Delivery Group has met regularly over the last year to monitor ongoing actions and identify barriers to implementation. Minutes from these meetings are published to the UK Rare Diseases Forum online platform along with a written progress report provided by delivery partners every 16 weeks.

In addition, in the 2023 action plan we committed to commissioning a portfolio level evaluation of England’s Rare Diseases Action Plans (action 29). Following a 2-stage application process, with applications reviewed by an expert panel convened by NIHR, a contract to carry out this research is currently being negotiated between NIHR and the successful applicant. A requirement of funding is that input is sought from the rare disease community on design of metrics and opportunities to engage will be publicised via the online platform in the coming months. Once the contract is in place, the rare diseases community will be informed who will carry out this work via the DHSC online platform and UK Rare Diseases newsletter. Milestones for the year ahead will be agreed and published and progress reported to the UK Rare Diseases Forum and in the 2025 England Rare Diseases Action Plan. The research project is expected run for 2 years, concluding in 2026. Evaluating the influence of the framework will tell us whether the interventions over this 5-year period have been effective in making a difference to what matters most to the rare diseases community and will help shape future rare diseases policy.

Section 2: addressing the priorities of the UK Rare Diseases Framework in 2024

Building on the actions listed above, our third action plan outlines a small number of new commitments for the coming year. Each action is described below with further information provided in annex B.

The new actions are numbered from 30 onwards, to provide continuity with England’s 2022 and 2023 action plans. This will allow for continued reporting against actions from the first action plan that are ongoing.

Priority 1: helping patients get a final diagnosis faster

People living with rare diseases often face long diagnostic odysseys. This can seriously affect patient’s mental and physical health and have significant cost implications for the NHS. For these reasons helping patients get a final diagnosis faster was identified as a priority in the 2021 UK Rare Diseases Framework. We will continue to focus on progressing the current actions in chosen in previous years, no new actions have been proposed for this priority, although action 33 below is relevant to both priority 1 and priority 4.

Priority 2: increasing awareness of rare diseases among healthcare professionals

Increasing awareness of rare diseases across the healthcare system will help patients get a diagnosis faster and ensure patients receive appropriate clinical care.

Action 30: developing a genomics communication skills resource

Diagnosis of a rare condition can require health care professionals to have very sensitive conversations with patients that must be handled appropriately to ensure the patient feels supported. NGE is therefore currently working to develop a genomics communication skills resource.

The target learners in the first phase of this project will be mainstream healthcare professionals who may encounter patients with rare diseases and are involved in (or soon to be involved in) conversations relating to the gathering of genomic information, consent for diagnostic genomic testing and feedback of results. This training will also be relevant for clinical genetics trainees in the early stages of training. NGE propose utilising a tiered approach providing opportunities for the incremental development of skills across 4 streams of content within the fields of rare disease initially and then cancer genomics.

Patient input has been sought in the development of this skills resource including members from the PAGE group, Medics 4 Rare Diseases and patient representatives from the Rare Diseases Framework Delivery Group.

Action 31: developing the specialist genomics workforce through the Genomics Training Academy (GTAC)

NGE will continue to build on the expertise of the genomics workforce through the Genomics Training Academy (GTAC). This resource will consist of a central virtual delivery platform and regional pillars delivering education and training to clinical geneticists, genetic counsellors, clinical scientists, laboratory staff and bioinformaticians.

Integrated with the GTAC, NHS England Genomics Unit have commissioned workforce profiling and redesign work to understand the skill sets and competencies required. The work will investigate the number of staff required to deliver a standardised service across England. NHS England are supporting international collaboration to improve workforce numbers, as well as fast tracking UK staff into the key roles required. The GTAC will upskill the specialist genomics workforce to the level of competence required to deliver the Genomic Medicine Service. This, along with a workforce review will impact on the quality and equity of care for patients with rare diseases.

Rare Diseases Day in the NHS

This year Rare Diseases Day falls on 29 February, the rarest day of the year. For the first time we are taking active steps to celebrate Rare Diseases Day in the NHS and through this raise awareness of rare conditions with healthcare professionals.

NHS England are supporting Rare Disease Day 2024 through a range of communication materials on both internal and external channels. With a keen focus on the day to prompt healthcare professionals to ‘Think Rare’, main communication efforts will be to engage with nursing and medical staff at local NHS organisations to raise awareness of the different clinical pathways available to them if they think a patient could have a rare disease.

In addition, the NHS National Genomics Education programme is shining a light on the resources which have been developed specifically to educate and train the NHS workforce in rare diseases. In 2024 NGE continued their close partnership working with Medics 4 Rare Diseases. This helps to understand workforce development requirements in this important area and utilise links with patient groups and representatives to provide fully informed education, training and awareness raising across the NHS.

Priority 3: better co-ordination of care

Rare diseases often present complex symptoms that can affect multiple different body systems. Care and treatment for people living with rare diseases often requires services from across health and social care, therefore co-ordination of care is a vital in delivering an effective service for patients living with rare diseases.

Action 32: implement networked models of care for patients with rare diseases ensuring that specialist expertise is always available whilst allowing patients to be treated and cared for as close to home as possible

The complexity of many rare conditions means that patients often require specialist care. NHS England is in the process of developing networked models of care which will ensure patients can access specialist care and be treated or cared for as close to home as possible. NHS England are developing networked models of care (Box 13) for inherited metabolic disorders (600 disorders and 11,000 patients in care) and amyloidosis (incidence of 800 new cases seen at the National Amyloidosis Centre). If these networked models of care are successful, they can be used as models for other conditions and rolled out more widely.

Box 13: networked model of care for inherited metabolic disorders

A workshop in November 2023, with a broad range of stakeholders, including patient groups, helped to define the aims of the inherited metabolic disorders networked model of care:

Enable patients to have access to specialist care across their life span, with a specific focus on transition from paediatric to adult services.

Ensure access to co-ordinated care across primary, secondary and tertiary provision.

Ensure that patients have consistent access, as close to home as possible, to the relevant diagnostic investigations, for example, imaging and blood tests.

Ensure co-ordination between specialist and local laboratories and ensure national service standards are developed, implemented and maintained.

Ensure care is provided in line with the published service specification.

Ensure that patients can access evidence-based treatments that they need by implementing the National Metabolic Formulary across the networked model of care and ensuring consistent access to drugs recommended by NICE and other treatments such as dietary supplements.

Develop metrics to monitor and improve clinical outcomes for patients and equity of access to services.

Optimise the use of staffing resources.

Continue to engage with patient groups such as Metabolic Support UK.

Priority 4: improved access to specialist care, treatment and drugs

The treatment landscape for rare conditions is ever expanding however it remains a challenge to ensure patients have access to the latest treatments, technology, and expertise. Furthermore, as more specialist care, treatment and drugs become available it is important to ensure access is equitable.

Action 33: develop a funding mechanism that sufficiently incentivises centres to undertake whole body scans on individuals with rare genetic conditions resulting in a predisposition to developing cancer prematurely

Identifying cancer early on significantly improved survival and outcomes for patients. The NHS Long Term Plan sets out the ambition that 75% of cancers be diagnosed at early stage by 2028. Patients with rare conditions resulting in a predisposition to cancer must be monitored closely to ensure cancers are caught as early as possible. One monitoring technique is carrying out full body scans in this population.

The current tariff is not sufficient to incentivise trusts to undertake full body scans and in a survey of providers, the majority of the 13 centres (9 adult and 4 paediatric) that can offer, interpret, and report whole body MRI, reported funding as the most frequent barrier. NHS England therefore are developing a funding mechanism that sufficiently incentivises centres to undertake these scans.

To target this population, the National Disease Registration Service will be used to identify individuals with rare conditions resulting in a genetic predisposition to developing cancer prematurely (linked to action 26 above).

Through this action NHS England will develop capacity and capability to undertake and report on whole body scans in geographically equitable locations. Reporting could be done virtually and would not need to be undertaken at all sites.

This action reflects one priority area expressed in the UK Cancer Genetics Group paper on the most pressing needs for families living with rare genetic conditions that cause an inherited predisposition to cancer, which was discussed at the May 2023 England Rare Diseases Framework Delivery Group meeting.

Action 34: building on the work in action 25, review the effectiveness of IDAP pilot in supporting access to medical devices, including diagnostics, for people living with rare disease

The MHRA will work with the partners to build on action 25 by looking at the effectiveness of the new Innovative Devices Access Pathway pilot for access to medical devices, including diagnostics, for people living with rare diseases. The IDAP pilot has been launched, and the 8 technologies were announced in February 2024. The review of the pilot will include consideration of how IDAP can support rare disease activity going forwards, to ensure rare diseases products are supported from the beginning.

Box 14: the Innovative Devices Access Pathway

The new Innovative Devices Access Pathway was announced in May 2023 and is operated by MHRA, NHS England, NICE, Health Technology Wales (HTW) and the Scottish Health Technology Group (SHTG). The aim of the pathway is to enable and improve patient access to innovative and transformative medical devices by providing an integrated and enhanced regulatory and access pathway to developers. The aim of the pilot is to test the main elements of the pathway and to provide informative learning and feedback that helps to build the future IDAP.

The IDAP pilot was open to UK and international commercial and non-commercial developers with new health technology solutions.

Successful applicants will receive tailored, intensive advice on regulatory approval, health tech assessments and access to the NHS from the IDAP partners.

This is important to ensure that rare disease patients have access to innovative medical devices, which have been proven to be safe and effective.

Rare Therapies Launch Pad

The Rare Therapies Launch Pad announced in the Chancellor’s 2023 Autumn Statement aims to develop a pathway for children with rare conditions to access individualised therapies. The programme’s first project, developed by a consortium including Genomics England, the Medicines and Healthcare products Regulatory Agency (MHRA), Oxford-Harrington Rare Disease Centre, Mila’s Miracle Foundation and the Association of the British Pharmaceutical Industry (ABPI), will explore the use of individualised therapies known as antisense oligonucleotides (ASOs) to treat children with ultra-rare and life-threatening brain conditions. The pilot will help identify a sustainable and scalable approach to delivering individualised therapies for children across a wider range of rare conditions, including establishing a proportionate regulatory pathway. This end-to-end pathway would cover diagnosis, the design and rapid manufacturing of these therapies, and treatment. Initially, the pilot will enrol 10 to 15 patients. If the pilot is successful, the consortium will seek to expand its reach. Funding for the pilot, to run 2023 to 2026, will be from commercial and not for profit entities, as well as existing budgets of public sector bodies. The pilot will generate evidence to help establish potential reimbursement for individualised therapies beyond the pilot.

Cross cutting theme: health equity

Action 35: publish and disseminate a health inequalities toolkit, for highly specialised services

This action builds on progress made under action 16 to reduce inequalities in NHS England highly specialised services, which was completed in the 2023 action plan. Over the coming year NHS England will develop and disseminate a health inequalities toolkit, to support people working within highly specialised services to reduce health inequalities and improve equity in their everyday service delivery. The toolkit will provide a step-by-step guide and prompt to help teams to find out whether health inequalities exist within their services and, if so, develop actions to address them. The toolkit will signpost the services to a range of resources related to health inequality so that they can become more familiar themselves. The toolkit is being built following feedback from highly specialised services about the challenges they face in identifying and addressing health inequalities and impact will be monitored through seeking feedback on the tool and the effectiveness of changes made in addressing health inequalities.

Action 36: map and measure the geographic spread of patients accessing highly specialised services

During the year ahead NHS England will review the geographical spread of patients using NHS England commissioned highly specialised services (HSS). The HSS model allows centres to see and treat sufficient volumes of patients to ensure excellent clinical outcomes, however, the trade-off is that access may be difficult for patients who need to travel long distances to access care from the expert centres. It is therefore important that NHS England monitor geographic access and ensure that all patients have access to the services and are not disadvantaged. This is an exercise undertaken every 3 to 4 years and the exercise was last undertaken in 2020. In the coming year, NHS England will specifically look at services where the number of patients accessing the service was different to what was expected and repeat the exercise for these services.

The exercise involves calculating the standardised coefficient of variation (SCV). NHS England will then assess whether there is systematic variation greater than that expected by chance. If so, the HSS team will work with the services to review the information in greater detail to understand the possible causes and explore further actions to reduce any inequalities. A repeat exercise will then be performed in 3 or 4 years to see whether the solutions have had an impact.

Future directions

This action plan provides an update on progress against the 29 actions set out in our first 2 action plans as well as setting out 7 new actions for 2024 to 2025.

In the coming year we will focus on progressing and completing existing actions, including ongoing actions from the 2022 and 2023 action plans. Progress will be reported in minutes of meetings of the England Rare Diseases Framework Delivery Group, with a more detailed report in the 2025 England Rare Diseases Action Plan. At the same time, we will continue to engage with stakeholders through the UK Rare Diseases Forum and online platform to gather feedback on implementation of actions. Recognising that there is always more to do, we will continue to work with the England Rare Diseases Action Plan Patient Advisory Group to define remaining priority gaps.

Most importantly, we will ensure, through ongoing dialogue, that people living with rare conditions remain at the heart of the decision-making process, and that this policy continues to be shaped by the views of those whose lives it will impact the most.

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1. At the NHS England Specialised Commissioning, Health & Justice and Armed Forces National Commissioning Group on 28 February 2023. ↩