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England’s Second Rare Diseases Action Plan: Briefing

By March 3, 2023No Comments

The Government has published England’s second Rare Diseases Action Plan this week, coinciding with international Rare Disease Day.

The new plan is part of the Government’s ambition to improve the lives of those living with rare conditions, as outlined in the 2021 UK Rare Diseases Framework. It also builds on the first Rare Diseases Action Plan, released in February of last year, which focused on developing digital tools to enable healthcare staff to better access rare disease information.

Central to the new plan is the implementation of 13 actions which support the wider priorities covered in the UK Rare Diseases Framework. These priorities are:

  • Helping patients get a final diagnosis faster
  • Increasing awareness of rare diseases among healthcare professionals
  • Better coordination of care
  • Improved access to specialist care, treatment and drugs

These four priorities are supplemented by five further themes: patient voice; national and international collaboration; pioneering research; digital, data and technology; and wider policy alignment.

The Government have also released an update regarding the progress made since last year’s first Rare Diseases Action Plan. Several improvements have already been made. In diagnostics, the Government are actively working to support the UK National Screening Committee (UK NSC), which has recently set up the UK NSC Bloodspot Task Group. The UK NSC has also recently recommended newborn screening for tyrosinaemia, a rare genetic disease, and established a new remit and terms of reference to cover both population and targeted screening. They are also committed to explore the feasibility of implementing whole genome sequencing (WGS) to screen for a defined set of genetic conditions in newborns.

Other progressive actions include the introduction of GeNotes – an information hub on genetic testing and rare disease results – to aid healthcare professionals, and the establishment of the patient advisory group, Patient Advisors for Genomics Education (PAGE), to support Health Education England’s (HEE) Genomics Education Programme (GEP).


The Actions

The Plan’s actions cover a wide range of topics, however, for the purposes of this briefing, particular attention with be given to those actions pertaining to diagnostics.


Commission research on how best to measure the diagnostic odyssey:

  • Currently, there is an absence of uniform methods for charting the diagnostics odyssey of rare diseases. Thus, it is paramount that metrics to accurately determine how long it takes to receive a final rare diseases diagnosis so that future interventions improving the time to diagnosis can be measured. Over the next year, DHSC will therefore commission policy research through an NIHR open call, inviting researchers to develop an effective method for measuring the time to diagnosis for both genetic and non-genetic rare conditions, with input from the rare diseases community. This is expected by autumn 2023, while the outcome of the call, the successful research proposal, and progress made will be reported in the 2024 action plan.


Increased data sharing for patient benefit to improve our understanding of equity of access to genomic testing and support interpretation of genomic test results:

  • In the next year, NHSE, NCARDRS and Genomics England will explore how they can better share their large troves of data on rare disease patients’ diagnoses and genomic variants for patient benefit. This will also help to identify those who have conditions which require them to be tested but have not yet undertaken them. The diagnostic variant data NCARDRS receives from NHS Genomic Medicine Service Labs will also be combined with similar data held by Genomics England to facilitate a unified ecosystem for variant frequencies, for conditions tested through different technologies across the NHS in England. Mechanisms to enable this, first data transfer and preliminary analysis will be completed by February 2024 with equity of access to testing data dashboards to follow after.
  • Additional support will also be provided to those with undiagnosed conditions and also patients with non-genetic rare conditions. To assist the former, a proposal for a pilot syndrome without a name (SWAN) programme has now been developed to reduce the time to diagnosis for patients with undiagnosed rare diseases, while NCARDRS will continue to work on developing ways to identify people with non-genetic rare conditions.


Publishing and implementing specific strategies for increasing awareness of rare diseases in the nursing and midwifery, pharmacy and primary care workforce:

  • HEE is currently working with subject matter experts in nursing and midwifery, pharmacy and primary care to ensure rare diseases are incorporated and specified in the strategies being developed and updated, due for publication in early 2023. HEE will collaborate with the these workforce groups to implement the outcomes of these strategies and evaluate their efficacy. This is supplemented by groups, such as Genomic Laboratory Hubs, who are increasing awareness of genomic testing across NHS professions.


Commission research to provide the evidence needed to operationalise better coordination of care in the NHS:

  • Over 2023, DHSC will commission policy research through an NIHR open call to fill the remaining evidence gaps to improve understanding of the most cost-effective and impactful approaches to improving coordination of care for people living with rare disease, particularly taking into account recent changes to how some NHS services are commissioned. Outcomes are expected by autumn 2023, with research commencing as soon as possible after contracting. The outcome of the call, the successful research proposal, and progress made in the interim, will be reported in the 2024 action plan.


Include the definition of coordination of care in all new and revised services specifications for patients with rare diseases, and ensure the priorities of the UK Rare Diseases Framework are embedded across NHSE highly specialised services:

  • NHSE will ensure all new and revised service specifications for patients with rare diseases are mapped against the definition of care coordination as set out in Defining Coordinated Care for People with Rare Conditions: A Scoping Review. Reviews will be held at all 80 HSS annual clinical meetings to determine the success thus far in meeting the 4 priorities of the UK Rare Disease Framework, with reference to: transition from paediatric to adult care; clinical outcomes; ongoing research and opportunities for patients to take part in research. NHSE will this year publish a National Framework for Transition targeting 0-25 year olds which will deliver an integrated approach to reduce health inequalities across the health, social care, education and voluntary sectors following consultations. Many resources, including significant financial investment, will also be used to provide patients living with rare conditions with mental health support.


improved ‘findability’ of people living with rare diseases using NCARDRS:

  • The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) has committed to improve the quality, coverage, completeness and transparency of national rare disease registration data. Moreover, a new web-based self-reporting system has been made available for public testing to allow patients to register themselves for inclusion in national data. A public dashboard will be developed, which will include information such as which rare diseases NCARDRS collects data on, how the data is collected, and prevalence and incidence figures, where available. This is due to be published for public testing by February 2024.


Continue to improve the understanding of the impact of NHS England’s specialised services commissioning activities on rare disease patients, and act on this information:

  • The use of patient impact assessments (PIAs) is currently being evaluated to ensure they continue to be a valuable source of information, alongside the clinical and commissioning information considered by members. From spring 2023, NHSE has also committed to routinely requesting equality health impact assessments from bidders, which will be considered when undertaking provider selection exercises for services for patients with rare diseases.


Establish a highly specialised services programme board and strengthen the role of NHS England in commissioning wider services for patients with rare diseases:

  • While commissioning of specialised services can be undertaken by ICBs following last year’s Health and Care Act, NHSE has published its intention to delegate responsibility for commissioning over 60 services to ICBs from April 2023 and around a further 25 services over time. To aid this objective, NHSE will establish, from April 2023, a Highly Specialised Services Programme Board (HSSPB), which will meet quarterly. The terms of reference of the NHSE Rare Diseases Advisory Group (RDAG), will also be revised to strengthen its clinical advice and clinical leadership role by June 2023.


Review the effectiveness of EAMS, ILAP and the IMF in improving access to treatments for people living with rare diseases:

  • Over the coming year, NHS England, MHRA and NICE will review the impact of these aforementioned medicines initiatives, including their effectiveness in improving access to treatments for people living with rare diseases.


Registration of national data for rare genetic conditions which cause an inherited predisposition to cancer:

  • NCARDRS will improve registration of some rare genetic conditions that cause an inherited predisposition to cancer this year. NCARDRS will also link to the national cancer data held by the National Cancer Registration and Analysis Service and will work with the UK Cancer Genetics Group to consider which conditions have the greatest unmet need and potential for immediate benefit. Aggregate variant level data will be shared securely with relevant stakeholders and will be used to inform research and contribute to the public dashboard (mentioned in previous actions). The UK Cancer Genetics Group are to submit a paper outlining the most pressing needs for families living with rare genetic conditions that cause an inherited predisposition to cancer. Work will also be done to understand how to get people living with both genetic and non-genetic rare conditions to participate in clinical research if they wish to. By improving accessibility to health data, identification of rare disease patients eligible to be invited for clinical trials will be made easier. Initiatives to improve uptake of clinical trials and provide information on the impact of clinical trials, and the research they yield, will be rolled out.


Improving the Be Part of Research platform for people living with rare diseases:

  • The Be Part of Research platform, an online service helping to increase understanding of clinical trials, is being developed and will seek input from the rare disease community, including how to make it as user-friendly as possible. There are plans to increase the visibility of the service across this year. The HRA has also published guidance for the research community on responsibilities of organisations and investigator oversight when participants take part in research across a number of settings, include home care. This is particularly relevant to participants with rare diseases, who would benefit from being able to take part in research in the care settings that are most appropriate for them. MHRA has recently published two guidelines for sponsors planning to conduct clinical research using real world data to support regulatory decision-making. Guidelines providing additional advice are due to be published this year.


Develop a plan to include rare diseases in NHS England’s Core20PLUS5 framework:

  • NHS England has developed an approach called Core20PLUS5 to support NHS integrated care systems (ICSs) reduce health inequalities at both national and local levels. The approach defines a target population that would benefit from a tailored healthcare approach to improve healthcare inequalities – the most deprived 20% (Core20) and others with poor health access who may be missed by this designation (PLUS) – and identifies 5 focus clinical areas requiring accelerated improvement. The Government will work with NHSE to include rare diseases as an example of the PLUS category. This would enable ICSs to prioritise rare disease patients through their own initiatives. Progress will be reported in next year’s England Rare Diseases Action Plan. Indeed, the England Rare Diseases Framework Delivery Group will continue to meet regularly to monitor all ongoing actions in this Plan and others and will seek to identify any barriers to implementation.


Commission portfolio level evaluation of England’s Rare Diseases Action Plans with input from the rare disease community on design of metrics:

  • In the coming year, DHSC will commission policy research through an NIHR open call, inviting researchers to work with the rare diseases community and wider stakeholders (including industry and the third sector) to develop metrics and methodology to measure improvement of the lives of people living with rare diseases in the UK across the 4 priority areas; and to apply these metrics to assess the outcomes of the framework as delivered through England’s action plans. This will allow for monitoring of the effectiveness of interventions over a lengthy period; helping to shape future rare disease policy and establishing targets. A final report will be published following the end of the framework in 2026, with calls and action plans, such as this, published in the interim.


Ben Kemp