Policy paper

England Rare Diseases Action Plan 2026, annex A: actions and status

Published 27 February 2026

Applies to England

Summary update on all actions  

Table 1 updates on the status of all 40 actions. Below the table, there is a brief outline of what partners have done in the last year for each action that is still active or is concluding this year.

Actions are categorised using the following statuses:    

• concluded - completed with all agreed milestones met 

• ongoing - continues with the same milestones as previously agreed and delivery expected to extend beyond February 2026 

• extended - continues beyond February 2026 with new or revised milestones introduced from that point 

• new - action 40 is new for 2026 

Table 1: summary of actions from England’s rare diseases action plans 

Action	Year of rare diseases action plan	Framework priority number and action status	Owner
1. Improving how decisions are made on newborn screening	2022	1, ongoing	Department of Health and Social Care (DHSC)
2. Whole genome sequencing (WGS) to screen for genetic conditions in healthy newborns study	2022	1, extended	Genomics England, NHS England
3. Continuously develop the National Genomic Test Directory	2022	1, concluded (2023)	NHS England
4. Further develop the Genomics England clinical research interface	2022	1, concluded (2023)	Genomics England
5. Pilot new approaches for patients with undiagnosed rare conditions	2022	1, ongoing	NHS England
6. Develop an innovative digital educational resource (‘GeNotes’)	2022	2, ongoing	NHS England (Genomics Education Programme)
7. Determine how best to include rare diseases in UK health education and training	2022	2, ongoing	NHS England (Genomics Education Programme)
8. Extend remit of NHS England Genomics Education Programme	2022	2, concluded (2026)	NHS England (Genomics Education Programme)
9. Publish high-quality epidemiological and research papers	2022	2, concluded (2023)	NHS England (National Disease Registration Service)
10. Develop a toolkit for virtual consultations	2022	3, concluded (2024)	NHS England
11. Support rapid access to drugs for patients with rare diseases	2022	4, concluded (2024)	NHS England
12. Develop a strategic approach for gene therapies and other advanced therapy medicinal products	2022	4, concluded (2025)	NHS England
13. Capitalise on the changes made to National Institute for Health and Care Excellence (NICE) methods and processes to support the rapid adoption of effective new treatments	2022	4, concluded (2026)	NICE
14. Monitor overall uptake of drugs and map geographical access	2022	4, ongoing	NHS England (National Disease Registration Service)
15. Map the rare disease research landscape to identify gaps and priorities	2022	4, concluded (2025)	DHSC, Medical Research Council (MRC)
16. Reduce health inequalities in NHS England’s highly specialised services (HSSs)	2022	4, concluded (2023)	NHS England’s HSSs
17. Commission research on how best to measure the diagnostic odyssey	2023	1, ongoing	DHSC
18. Increased data-sharing for patient benefit	2023	1, concluded (2026)	Genomics England, NHS England (National Disease Registration Service)
19. Strategies for increasing awareness of rare diseases in the health workforce	2023	2, ongoing	NHS England (Genomics Education Programme)
20. Commission research to operationalise better co-ordination of care	2023	3, ongoing	DHSC
21. Include definition of co-ordination of care in services specifications for patients with rare diseases	2023	3, concluded (2026)	NHS England
22. Improved ‘findability’ of people living with rare diseases using the National Congenital Condition and Rare Disease Registration Service (NCARDRS)	2023	4, ongoing	NHS England (National Disease Registration Service)
23. Improve understanding of the impact of NHS England’s specialised services commissioning activities on rare disease patients	2023	4, concluded (2024)	NHS England
24. Establish an HSS programme board and strengthen role of NHS England in commissioning wider services	2023	4, concluded (2024)	NHS England
25. Review effectiveness of Early Access to Medicines Scheme (EAMS), Innovative Licensing and Access Pathway (ILAP) and the Innovative Medicines Fund (IMF) in supporting access to treatments	2023	4, ongoing	NHS England, NICE, Medicines and Healthcare products Regulatory Agency (MHRA)
26. Registration of national data for exemplar rare genetic conditions that cause an inherited predisposition to cancer	2023	4, concluded (2026)	NHS England (National Disease Registration Service)
27. Improving the Be Part of Research platform	2023	4, ongoing	DHSC, National Institute for Health and Care Research (NIHR)
28. Develop a plan to include rare diseases in NHS England’s Core20PLUS5 Framework	2023	4, concluded (2026)	DHSC, NHS England
29. Commission portfolio level evaluation of England’s rare diseases action plans	2023	4, ongoing	DHSC, NHS England
30. Develop a genomics communication skills resource	2024	2, ongoing	NHS England (Genomics Education Programme)
31. Develop specialist genomics workforce through the Genomics Training Academy (GTAC)	2024	2, ongoing	NHS England (Genomics Education Programme)
32. Implement networked models of care	2024	3, extended	NHS England
33. Develop a funding mechanism that incentivises centres to undertake whole body scans	2024	4, extended	NHS England’s HSSs
34. Review effectiveness of Innovative Devices Access Pathway (IDAP) pilot in supporting access to medical devices	2024	4, concluded (2025)	MHRA
35. Publish and share a health inequalities toolkit, for NHS England’s HSSs	2024	4, concluded (2026)	NHS England
36. Map and measure the geographic spread of patients accessing NHS England’s HSSs	2024	4, extended	NHS England’s HSSs
37. Clinics for multi-system disorders	2025	3, ongoing	NHS England
38. Reform of the clinical trials regulations	2025	4, concluded (2026)	MHRA
39. Develop an operational framework for individualised therapies in the NHS	2025	4, ongoing	NHS England
40. Addressing health inequalities for rare diseases through Core20PLUS5	2026	4, new	DHSC, NHS England

Detailed updates on ongoing actions

The following updates cover all the ongoing, extended and new actions and those that have concluded this year. 

Action 1: improving how decisions are made on newborn screening    

In August 2025, the UK National Screening Committee (UK NSC) published a suite of 4 documents relating to its review of evidence on newborn screening for spinal muscular atrophy (SMA).   

UK NSC will consider the draft recommendation from the in-service evaluations of severe combined immunodeficiency and SMA.   

Action 2: whole genome sequencing (WGS) to screen for genetic conditions in healthy newborns study    

The current focus is on: 

• expanding access to the study across sites 

• increasing recruitment 

• extending systems to deliver results consistently and on time through to the end of recruitment in 2027 

Evaluation by a University College London based research group is under way, assessing acceptability, feasibility, cost-effectiveness, impact and outcomes.          

Additional work will include continuing to explore the ethical, operational and clinical implications of utilising a newborn’s genome sequence at different points over a lifetime.   

Action 5: pilot new approaches for patients with undiagnosed rare conditions    

Service description and implementation plan has been developed. Following a pause due to funding constraints, progress is now expected to be made.    

Two pilot centres will be opened by autumn 2026.          

Action 6: develop an innovative digital educational resource (‘GeNotes’)    

Over the last year, the GeNotes team worked with Medics For Rare Disease to create a collection of resources on rare diseases, with a focus on the psycho-social impact. They developed a set of visual communication aids to support healthcare professionals in explaining complex genetics terms to patients and families. They also collaborated with Genomics England on a package of resources to support the Generation Study.  

The GeNotes team has also been contributing to an app pilot, exploring the use of artificial intelligence (AI) to enhance user experience.    

The team will be researching how GeNotes can integrate with the future digitised NGTD. It will also develop a series of clinical case studies for the GeNotes knowledge hub, which will feature patient and family experiences of rare disease by March 2027.   

Action 7: determine how best to include rare diseases in UK health education and training    

The patient advisers for genomic education (PAGE) team has appointed a member to GTAC to ensure lived experience is at the forefront of their work.    

NHS England’s Genomics Education Programme (GEP) is working with Medics For Rare Disease and other main stakeholders to explore and implement the best ways to ensure public and patient voices are embedded in genomic education and training.   

Action 8: extend remit of NHS England’s GEP

Following the review of NHS England’s GEP Rare Disease Education Hub and other educational resources in rare disease, NHS England’s GEP is expanding the programme’s remit into non-genetic rare disease. This is as a result of the review of the Rare Disease Education Hub and other educational resources in rare disease. NHS England’s GEP accepted the review’s recommendations for improvement and further development.    

Action 13: capitalise on the changes made to National Institute for Health and Care Excellence (NICE) methods and processes to support the rapid adoption of effective new treatments

NICE has set up a dedicated technical and project team within its medicines evaluation directorate. This means that are disease topics will be evaluated in the technology appraisal and highly specialised technology programmes.   

Action 14: monitor overall uptake of drugs and map geographical access    

The pilot on a drug for systemic lupus erythematosus has now finished.    

Read the pilot methodology. 

NDRS has developed an analysis pipeline that can assess equity of access to high-cost drugs for well-defined eligible cohorts, subject to data availability. They will also be considering further methodological development to aid with the identification of eligible populations.

Action 17: commission research on how best to measure the diagnostic odyssey    

The diagnostic odyssey project aims to: 

• identify disease characteristics that impact time to diagnosis 

• map the most common rare diseases 

• analyse core NHS data sets to inform the refinement of indicator conditions and the future development of time-to-diagnosis models   

The team will continue to complete research and publish a final report in collaboration with the research advisory group (RAG) and patient and public involvement groups. This visual mapping tool will illustrate real-world diagnostic journeys, helping to identify systemic delays, bottlenecks and variations in experience.   

Action 18: increased data-sharing for patient benefit    

Information governance permissions are now in place to enable the flow of genomic data between NHS England (NDRS and the Genomics Unit) and Genomics England. This will enable identification of patients who have certain rare diseases and allow exploration of genomic testing rates for different diseases.     

Action 19: strategies for increasing awareness of rare diseases in the health workforce    

Over the last 2 years, NHS England’s GEP has set up 3 workforce groups in the following professions: 

• pharmacy 

• nursing and midwifery 

• primary care 

These groups have been working successfully to collaborate and co-ordinate activities nationally to support the development of healthcare professional awareness in genomics.       

Following publication of the 10 Year Health Plan for England, the team is reviewing and revising the genomic adviser framework. Genomic advisers are clinicians or scientists who support clinicians with genomic test decisions and update and/or create new GeNotes pages.   

Action 20: commission research to operationalise better co-ordination of care    

Regular meetings have taken place with groups to identify themes related to rare condition co-ordination.             

A paper is now being prepared for submission to an academic journal in March 2026. Due to delays in study site approval, a short project extension to July 2026 is anticipated. During the extension period, qualitative data collection, survey distribution, analysis, write up and sharing will continue.       

Action 21: include definition of co-ordination of care in services specifications for patients with rare diseases    

NHS England will continue to incorporate a focus on care co-ordination when updating service specifications.   

Action 22: improved ‘findability’ of people living with rare diseases using the National Congenital Condition and Rare Disease Registration Service (NCARDRS)

NHS England’s rare condition registration statistics were updated in February 2025, and a formalised Rare Disease Data Set specification has been launched to standardise collection of rare disease data across the NHS. Funding has also been secured for discovery work on patient self-registration, with multiple platform options under exploration.          

Action 25: review effectiveness of Early Access to Medicines Scheme (EAMS), Innovative Licensing and Access Pathway (ILAP) and the Innovative Medicines Fund (IMF) in supporting access to treatments 

The refreshed ILAP is a UK initiative aimed at accelerating the development of and access to innovative treatments, including for rare diseases. The 3 products selected in the first application round are for the treatment of rare diseases.  

MHRA has also addressed challenges in using the Early Access to Medicines Scheme by updating guidance on real-world data collection and access management, providing greater clarity and flexibility for companies. Since April 2023, 11 of the 24 products to receive funding through the Innovative Medicines Fund have been treatments for rare diseases. 

Of these 11 products:

• 10 have received accelerated access from the date of positive draft NICE guidance through interim funding
• one is being funded for a period of managed access while further data is collected to address clinical uncertainties   

A meeting to review the effectiveness of EAMS, ILAP and the IMF for rare disease therapies was held in July 2026. Attendees included the Association of the British Pharmaceutical Industry, BioIndustry Association, patient organisations and clinical representation.

A follow-up meeting to review the effectiveness of these pathways will be held in 2026.   

Action 26: registration of national data for exemplar rare genetic conditions that cause an inherited predisposition to cancer 

NHS England’s NDRS has made substantial progress towards establishing the National Inherited Cancer Predisposition Register (NICPR), which is designed to provide a consistent national data set for all hereditary cancer predisposition syndromes currently tested in the NHS.   

NHS England’s NDRS is engaging with NHS England screening programmes to ensure that NICPR can contribute directly to screening pathways where national programmes exist. This includes: 

• Lynch syndrome, where the pathway is already in place 

• hereditary breast cancer, where it is under discussion 

Action 27: improving the Be Part of Research platform    

A major project is currently under way to redevelop and improve the Be Part of Research platform. This should enable the service to better meet the needs of research into rare diseases. Significant improvements in this area are unlikely to be implemented until 2027.   

Action 28: develop a plan to include rare diseases in NHS England’s Core20PLUS5 Framework    

Evidence gathering is now complete.  This action has been closed and work will be taken forward with new framing and milestones under action 40.

Action 29: commission portfolio level evaluation of England’s rare diseases action plans    

The project is identifying ‘metrics’ or measures that can be used to measure the impact of the rare disease action plans.            

Interviews and surveys with individuals and families affected by rare diseases and healthcare professionals will inform the final selection of metrics.  The research project is expected to conclude in May 2026, with a final report published later.

Action 30: develop a genomics communication skills resource    

The 6 e-learning core communication skills modules on the NHS Learning Hub will continue to be delivered as part of the GTAC during 2026. Evaluation data has been collected and is still in analysis for initial impact.   

A longitudinal study will follow to assess implementation into clinical practice. AI and/or simulated communication skills education experience is also being explored next year, so that professionals can practise skills in a virtual environment.   

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

GTAC offers 258 learning hours through an online platform, providing a diverse range of opportunities for staff training and development.     

Preliminary evaluation reports are expected by April 2026, providing a clearer picture of resource effectiveness and overall impact.   

Action 32: implement networked models of care    

Progress has been made to identify amyloidosis network partners through procurement. This is ongoing. The networked model of care for metabolic services remains dependent on funding and further work to engage stakeholders.             

Ability to make further progress will be reviewed in the 2026 to 2027 financial year.   

Action 33: develop a funding mechanism that incentivises centres to undertake whole body scans    

Following agreement of service requirements, NHS England has launched a procurement exercise to identify future providers of adult whole-body magnetic resonance imaging (MRI) scanning for designated cancer-predisposing conditions that carry a high risk of developing cancer at an early age, such as Li-Fraumeni syndrome. Subject to NHS England governance, successful providers are expected to be operational from 1 May 2026.    

The procurement for the adult service is still in progress with the expectation that, following conclusion, service provision will commence as soon as possible. Planning for the paediatric whole-body MRI procurement is underway.

Action 35: publish and share a health inequalities toolkit for NHS England’s HSSs   

The toolkit was launched on the NHS Futures platform (only for NHS staff) and the UK Rare Diseases Forum online platform in June 2025. A webinar took place in November 2025 to support adoption by clinical teams.   

Action 36: map and measure the geographic spread of patients accessing NHS England’s HSSs    

Where previous analysis identified unexpected variation, providers have been asked to develop action plans to address inequities and variation. To strengthen ongoing oversight, access has been a standing item on the agenda of annual clinical meetings with relevant services since February 2025.              

A repeat of the analysis across all HSSs is planned for the 2027 to 2028 financial year to assess progress and inform further action.   

Action 37: clinics for multi-system disorders    

Activities to date include engagement with existing clinics to learn from their experience.             

Current planning activities will inform next steps.   

Action 38: reform of the clinical trials regulations   

The new clinical trials regulation, the Medicines for Human Use (Clinical Trials) (Amendment) Regulations 2025, laid in Parliament on 12 December 2024, has now been signed into law. A 12-month rollout began on 11 April 2025 and will take full effect from 10 April 2026.   

Action 39: develop an operational framework for individualised therapies in the NHS    

The planned output is a national operating framework setting out how NHS-commissioned individualised therapies for rare diseases will be delivered to patients. It is anticipated that the plan will be finalised in March 2026.        

Once the plan has been finalised, NHS England will begin development of the operational framework, initiating testing with external stakeholders and refining the framework based on feedback by the end of 2027.   

Action 40: addressing health inequalities for rare diseases through Core20PLUS5  

Evidence on health equity and rare diseases is to be shared through monthly healthcare inequalities improvement governance groups, forum, network and board, and presented to regions.    

A joint blog is to be developed on emerging evidence and learning shared with stakeholders, such as integrated care board health inequality leads. 

Learning from sickle cell disease and thalassemia programme evaluation will be shared along with progress on collaborative work with the genomics programme.