Policy paper

England Rare Diseases Action Plan 2024: annexes

Updated 14 May 2024

This was published under the 2022 to 2024 Sunak Conservative government

Applies to England

Annex A: progress against actions in England’s 2022 Rare Diseases Action Plan

Priority 1: helping patients get a final diagnosis faster

Action 1: improving how decisions are made on newborn screening for rare diseases

Owner: DHSC

Metrics and milestones published in the 2023 action plan:

• the UK National Screening Committee (UK NSC) will continue work to improve the evidence available to them in evidence reviews
• draft manuscript on baseline comparison between UK and EURORDIS completed by spring or summer 2023
• draft report on methodological principles for screening test accuracy prepared for discussion with UK NSC and Netherlands Health Council in spring or summer 2023
• commissioning briefs ready for procurement in 2023

Progress report:

• progress to improve the evidence available to the UK NSC has been delayed due to resource constraints
• the manuscript on baseline comparison between UK and EURODIS has been published
• the report on methodological principles for screening test accuracy has been delayed due to resource constraints
• commissioning brief on technical and procedural considerations for modelling exercises completed and contract awarded to Sheffield Centre for Health and Related Research
• project on the use of registries in the newborn evaluation, this project is still being developed within the Blood Spot Task Group and subject to external commissioning

Status (ongoing, extended or concluded): ongoing  

Metrics and milestones for 2024:

• the UK NSC will continue work to improve the evidence available to them in evidence reviews
• draft report on methodological principles for screening test accuracy study designs in rare disease settings in summer or autumn 2024
• publish a paper on technical and procedural considerations for modelling exercises around newborn screening in summer or autumn 2024. Timelines dependent on scientific journal publishing specifications
• publish a paper on use of registries in the newborn screening evaluation process

Action 2: whole genome sequencing (WGS) to screen for genetic conditions in healthy newborns - designing an ethically approved research study

Owner: Genomics England, NHS England

Metrics and milestones published in the 2023 action plan:

• optimal method for taking samples from newborns for the purposes of WGS
• data from the Baby and Mum Samples Study analysed and reported through Genomics England (GEL) website (results anticipated in the first half of 2023)
• a list of genes and variants to be included in the screening panel, finalised and published over the next year
• participant information materials and website developed with approval by a Research Ethics Committee
• training for healthcare professionals involved in the study delivered to at least 3 NHS sites
• Research Ethics Committee-approved research study rolled out in a small number of NHS trusts
• evaluation strategy developed with processes established to capture data that informs the value of the programme, including with respect to health economic outcomes

Progress report:

• metrics and milestones published in the 2023 action plan have all been completed
• the Generation study has commenced with an initial list of 223 conditions being published
• pathways are being developed to highlight the confirmatory tests and intervention for each condition and mapping national and regional referral routes
• the analysis process including variants within these genes that will be tested for is being established

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• research study rolled out to the number of trusts agreed with NHS England, following full adherence to an agreed readiness checklist
• data gathered (a combination of qualitative and quantitative metrics including user research) and changes made to study materials and process from the experiences of initial sites that are planned to start early 2024
• following publication of the initial list of genes and conditions to be included in the study, and based on live experience analysing results, a consultation process will be planned to inform a future iteration of genes, conditions, and variants to be tested in the study in collaboration with NHS England
• establish community of practice to share experiences and learnings across recruiting NHS trusts and NHS Genomic Medicine Service Alliances involved in the study
• external evaluation provider established and initiated mixed-methods approach to address study research questions, including:
• experiences and attitudes of participants, healthcare professionals, patient groups and the public
• impacts of the study on families and the health services
• health economic analysis
• interim report of initial findings of the evaluation to be published by late 2024

Action 3: continuously develop the National Genomic Test Directory - including rollout of whole genome sequencing (WGS) that will play an important role in diagnosis of rare diseases

Owner: NHS England

Status (ongoing, extended or concluded): concluded in 2023 action plan

Action 4: further develop the Genomics England clinical research interface - increase the number of diagnoses from genome data, and provide evidence to support the NHS Genomic Medicine Service in developing its diagnostic Test Directory

Owner: Genomics England

Status (ongoing, extended or concluded): concluded in 2023 action plan

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

Owner: NHS England

Metrics and milestones published in 2023 action plan:

• the model is being discussed through NHS England governance and finance structures. If relevant funding is agreed, the syndrome without a name (SWAN) clinic pilot will be implemented in 2023

Progress report:

• following discussions with the NHS England Genomics Programme, a service model has been agreed for the pilot SWAN clinics and funding secured

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• select the 2 pilot sites for the clinics and implement in 2024

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

Owner: DHSC

Action-specific monitoring and evaluation from the 2023 action plan:

• funding call launched in early 2023
• outcomes of the 2-stage application process by autumn 2023, with research commencing as soon as possible after contracting
• the outcome of the call, the successful research proposal, and progress made will be reported in the 2024 action plan

Progress report:

• a funding call was launched and the 2-stage process completed by autumn 2023
• a centre has been identified to carry out the research and the contract is currently being negotiated

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• research team and milestones for the year ahead publicly announced by April 2024 (via the UK Rare Diseases Forum and online platform)
• progress will be reported in the 2025 action plan

Action 18: increased data-sharing for patient benefit to improve our understanding of equity of access to genomic testing and support interpretation of genomic test results

Owner: Genomics England, NHS England (National Disease Registration Service (NDRS)

Action-specific monitoring and evaluation from the 2023 action plan:

• one round of whole genome sequencing (WGS) data transfer from GEL to National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) to take place
• analysis plan in place at NCARDRS
• feasibility of transfer of non-WGS data from NHS England to NCARDRS assessed
• workshop held with patient organisations

Progress report:

• one round of WGS data transfer from GEL to NCARDRS scheduled to take place in early 2024
• a working group has been established within NHS England to explore analytical approaches for demand modelling and equity of access for certain indications in the National Genomic Test Directory, where data is available
• work is underway to support the transfer of non-WGS data to NCARDRS including Patient Level Contract Monitoring (PLCM) and bespoke feeds directly from the Genomic Laboratory Hubs (GLHs)
• the workshop with patient organisations has been delayed until 2024 to 2025 due to resourcing constraints

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• hold workshop with patient organisations
• explore how data sharing can be maintained and incorporated into business as usual
• relevant analytical outputs to be produced during 2024 to 2025, including demand modelling and equity of access to certain testing indications where data is available
• evaluate the feasibility of a mapping exercise to understand the overlap between the conditions list that has been published for the Generation Study and the rare conditions prevalence data collected by NDRS, by February 2025

Priority 2: increasing awareness of rare diseases among healthcare professionals

Action 6: develop an innovative digital educational resource (‘GeNotes’) - providing healthcare professionals with relevant and concise information to support patient management, linking to the NHS Genomic Test Directories, and signposting to extended learning opportunities

Owner: NHS England (National Genomics Education Programme)

Metrics and milestones published in the 2023 action plan:

• evaluation of resources will continue through 2023, upcoming improvements include:
• advanced search and better filtering
• improved ‘In the Clinic’ specialty landing pages
• enhancements to Knowledge Hub
• next phase: pilot to syndicate GeNotes to primary care systems and exploring demand for a GeNotes app
• further specialities are planned to launch in spring or summer 2023, including: foetal and women’s health, cardiology, primary care, pharmacogenomics, paediatrics and endocrinology
• scale up content production for specialities from April 2023 onwards and resource being allocated to new specialities, for example neurology, nephrology and haemato-oncology

Progress report:

• the development of the GeNotes resource has continued throughout the last year
• to date 7 specialities have been launched: endocrinology, pharmacogenomics, primary care, paediatrics, oncology and fetal and women’s health and neurology
• there are 5 further speciality working groups; nephrology, haemato-oncology, gastro-hepatology, dermatology and mental health yet to be launched

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• continue to develop speciality specific content for existing specialties – throughout 2024 to 2025
• introduce more speciality working groups – to be decided and established throughout 2024 to 2025
• during quarter 1 of 2024 to 2025 GeNotes working groups will be reviewed to ensure both multi-professional workforce representation and patient and public involvement in content development
• development of the GeNotes app, consisting of 3 phases:
  • user testing in quarter 1, 2024 to 2025
  • app discovery (ensuring the app can be found by users) in quarter 2, 2024 to 2025
  • testing to assess capability and functionality in quarter 2, 2024 to 2025
• pilot project to syndicate GeNotes contents into GP systems in quarter 4, 2024 to 2025

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

Owner: NHS England (National Genomics Education Programme)

Metrics and milestones published in the 2023 action plan:

• the Genomics Education Programme (GEP) will undertake a desktop review of educational curricula, standards of proficiency and frameworks with a view to incorporating teaching opportunities using rare disease examples (for example, the inclusion of genomics in the Nursing and Midwifery Council standards with underpinning teaching materials developed by the GEP included in the nurse educator toolkit)
• there will be ongoing qualitative and quantitative monitoring and evaluation of the Rare Disease massive open online course (MOOC)
• the GEP will also continually monitor the content of the course to ensure it is up to date with the ever-evolving genomics environment
• the Patient Advisors for Genomic Education (PAGE) will meet twice a year, and actions and impact will be measured against the group’s objectives
• the GEP will develop a further 2 to 5 clinical pathway initiatives (CPIs) to facilitate the integration of genomic medicine through the alignment of patient pathways, workforce development and education and/or training requirements, relating to rare diseases
• based on the findings of the CPI competencies and gap analysis, the GEP will also develop further tier one and 2 GeNotes resources relating to rare disease

Progress report:

• National Genomics Education (NGE) Programme and Academy of Medical Royal Colleges (AoMRCs) continue to work collaboratively, liaising with Royal Colleges to evaluate curricula, with a view to ensuring rare disease is appropriately integrated
• work with Medics for Rare Diseases has continued to understand where genomics has been included in multi-professional and multi-speciality curricula and how rare disease examples can be incorporated in teaching opportunities. This work will also consider the presence of content referring to rare disease with a non-genomic cause
• the PAGE is embedded into the NGE work to ensure the views of patients are captured and integrated into NGE resources and course content, membership includes those with lived experience of rare disease
• several members have also been recruited to the genomic communication skills expert reference group, including 2 members from the Rare Diseases Framework Delivery Group
• in collaboration with the rare disease team in the South West Genomics Laboratory Hub, the CanGene-CanVar grant and colleagues across the Genomic Medicine Service, we have hosted a number of webinars and virtual workshops to support 2 variant interpretation MOOCs
• the rare disease MOOC was launched in 2023 on the FutureLearn platform. This includes patient interviews and expert interviews
• through our clinical pathway initiative, which will identify patient touchpoints, competencies required and education and training interventions, we will be able to establish gaps in our frameworks, and address those with subject matter expert input

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• NGE programme will continue to work with AoMRCs and our fellows throughout 2024 to 2025 to continue to ensure genomics using rare disease examples are embedded into curricula, academic frameworks and learning plans
• NGE programme is contracted with Medics for Rare Diseases in 2023 to 2024 to develop further education and training resources to meet the needs of the multi-professional workforce and raise awareness across profession and specialities. We are committed to continuing this partnership in the 2024 to 2025 financial year
• during 2024 to 2025 there will be further development of clinical pathway initiatives with additional rare disease pathways to be decided and added

Action 8: extend the remit of the Genomics Education Programme (GEP) to include non-genetic rare diseases

Owner: NHS England (National Genomics Education Programme)

Metrics and milestones published in the 2023 action plan:

• the GEP and the Association of the British Pharmaceutical Industry (ABPI) will work together to incorporate greater understanding of future advances in medicines, including rare disease
• the NGE Regional Genomic leads will continue to meet 6 times a year to ensure connection to regional education and training leads
• ‘month of genomics’ activity held in collaboration with the Royal College of Obstetricians and Gynaecologists (RCOG), Royal College of Paediatrics and Child Health (RCPCH) and Royal College of Midwives (RCM) to explore genetic and non-genetic rare diseases

Progress report:

• NGE has continued work to include information, education and training regarding non-genetic rare disease within our GeNotes resource as part of tier one in the clinic information and tier 2 knowledge hub resources
• NGE continue to develop our rare diseases hub and will include non-genetic rare diseases within this space
• NGE are working in partnership (under an arranged agreement) with the ABPI, who are supporting and providing expert input into the development of GeNotes and other GEP resources including access to latest clinical trial information and pharmaceutical updates through their membership
• NGE continue to work with Genomics England in setting up an education and training working group to support the new-born screening programme
• NGE are also linking up with other Workforce, Training and Education departments, Genomics Unit, Royal Colleges and professional societies to build networks and gain expert input into their rare diseases programme

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• NGE will continue to work with Medics for Rare Diseases throughout 2024 to 2025 including to extend the remit of the programme to include non-genetic rare disease
• enhance patients, family members and carers involvement in the NGE through the patient group PAGE
• as part of the development of the communication skills resource continue to work with families, patients and carers on the impact their health outcomes and how best to optimise communication in different scenarios
• include patient and public involvement on the NGE expert reference group which meets bi-monthly in meetings throughout 2024 to 2025
• deal with the pre-diagnostic uncertainty for families and anxiety with patients with SWAN through ongoing partnership with Medics for Rare Diseases throughout 2024 to 2025

Action 9: publish high-quality epidemiological and research papers to increase the understanding of rare diseases, including papers looking at basic rare disease epidemiology, impact of COVID-19 on people with some rare diseases and cancer-related risk factors or outcomes for people with some rare diseases

Owner: NHS England

Status (ongoing, extended or concluded): concluded in 2023 action plan

Action 19: publishing and implementing specific strategies for increasing awareness of rare diseases in the nursing and midwifery, pharmacy and primary care workforce

Owner: NHS England (National Genomics Education)

Action-specific monitoring and evaluation from the 2023 action plan:

• updated curricula to feature content on genomics and rare diseases
• continued engagement with stakeholders and relevant professional bodies to evaluate the uptake and impact of resources against baseline surveys of workforce in midwifery, pharmacy and primary care

Progress report:

• NGE published the Genomics Pharmacy Workforce strategy
• evaluation of the impact and uptake of resources in midwifery, pharmacy and primary care is still ongoing
• continuation of:
  • co-production of teaching materials and events for healthcare professionals
  • provision of both genomics and all-rare disease teaching and training for medical students and doctors
  • provision of advice on and co-developing educational content for the Rare Disease Hub
  • review and feedback on educational content currently on the Rare Disease Hub

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• develop framework to effectively gather evidence to evaluate the impact and uptake of resources to be published in the 2025 England Rare Disease Action Plan
• continuation of evaluation of the impact and uptake of resources in midwifery, pharmacy and primary care
• take forward the activity identified in the Genomics Pharmacy Workforce strategy to develop this workforce further
• incorporate resources developed by the nursing transformation team into NGE education and training
• incorporate rare diseases into the learning outcomes into the PGCert in Genomics in Counselling skills course

Priority 3: better co-ordination of care

Action 10: develop a toolkit for virtual consultations - improving use of videoconference and telephone clinic calls in services for patients with complex, multi-system rare diseases

Owner: NHS England

Metrics and milestones published in the 2023 action plan:

• NHS England will make its toolkit available to all highly specialised services clinical leads

Progress report:

• the NHS England toolkit has been circulated to trust chief executives and highly specialised services clinical leads
• the impact will be monitored through seeking feedback on the tool and the effectiveness of changes made in addressing health inequalities

Status (ongoing, extended or concluded): concluded

Action 20: commission research to provide the evidence needed to operationalise better co-ordination of care in the NHS

Owner: DHSC

Action-specific monitoring and evaluation from the 2023 action plan:

• funding call launched in early 2023
• outcomes of the 2-stage application process by autumn 2023, with research commencing as soon as possible after contracting
• the outcome of the call, the successful research proposal, and progress made will be reported in the 2024 action plan

Progress report:

• a funding call was launched and the 2 stage process completed by autumn 2023
• a centre has been identified to carry out the research and the contract is currently being negotiated

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• research team and milestones for the year ahead publicly announced by April 2024 (via the UK Rare Diseases Forum and on-line platform)
• progress will be reported in the 2025 action plan

Action 21: include the definition of co-ordination 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 NHS England highly specialised services

Owner: NHS England

Action-specific monitoring and evaluation from the 2023 action plan:

• from 2023, all new and revised service specifications include definition of care co-ordination
• discussion of priorities of UK Rare Diseases Framework included as an agenda item at all highly specialised services annual clinical meetings in 2023
• progress against framework priorities reported in 2024 action plan

Progress report:

• a paper was agreed at the Service Specification Tracker meeting on 27 March 2023 that set out the requirement to consider the agreed definition of care co-ordination in all specifications for patients with rare diseases (highly specialised and non-highly specialised)
• there was also agreement to include reference to submitting data to NCARDRS where relevant
• agenda item on co-ordination of care alongside other priorities included in highly specialised services annual clinical meeting

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• monitoring of the numbers and examples of service specifications that include the agreed definition of care co-ordination and references to submitting data to NCARDRS

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

Action 11: support rapid access to drugs for patients with rare diseases in the NHS - assessing the complexity of the service in which the drugs will be used, by mapping available access initiatives, identifying drugs and delivery challenges through horizon scanning, and listing drugs that have been identified for access

Owner: NHS England

Metrics and milestones published in the 2023 action plan:

• NHS England will produce an annual report by the end of the 2022 to 2023 financial year on access to drugs for patients with rare diseases at the point of delivery. This report will also include an analysis of overall uptake and geographical equity for those drugs recommended in the NICE Highly Specialised Technology Programme
• NHS England is actively working with pharmaceutical companies and providers to assess the commissioning model needed for drugs to be delivered, so that access can be provided at the point of delivery

Progress report:

• the Highly Specialised Commissioning Team has completed the analysis of uptake of drugs and geographical equity of drugs. This was presented to the Rare Diseases Advisory Group in April 2023 and the England Rare Diseases Delivery Group in May 2023. 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 of 10 drugs that could be measured. The paper also included a map of programmes that support rapid access to drugs
• the preparedness template has now been rolled out and at least 10 templates have been completed by companies to inform NHS England on the service requirements for advanced therapy medicinal products (ATMPs) in particular. While all of these products are yet to be commissioned, several have been used as the basis for formal provider selections where detailed stipulations for future providers are required: this includes treatments for Duchenne muscular dystrophy. Feedback from companies has been positive and NHS England have updated the form several times in response to their feedback

Status (ongoing, extended or concluded): concluded

Action 12: develop a strategic approach for gene therapies and other ATMPs - based on horizon scanning by NHS England

Owner: NHS England

Metrics and milestones published in the 2023 action plan:

• development and implementation of the strategic approach will continue

Progress report:

• the NHS England Specialised Commissioning, Health & Justice and Armed Forces National Commissioning Group received a paper on the strategic approach to commissioning ATMPs on 28 February 2023. Members noted: the proposed strategic vision for ATMPs; the proposed approach to commissioning ATMPs in 2023 and 2024 including the proposed provider selection approaches; and the outline approach to commissioning services for ATMPs. Summary information from the paper has been communicated to stakeholders, including at a number of stakeholder events in autumn 2023

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• NHS England will continue to communicate with stakeholders on its strategic approach in this rapidly evolving area, including at events and via its membership of ATMP engage

Action 13: capitalise on the changes made to NICE’s methods and processes to ensure that NICE continues to support the rapid adoption of effective new treatments for NHS patients with rare diseases - implementing NICE’s new methods and processes to support access to new treatments for rare disease patients

Owner: NICE

Metrics and milestones published in the 2023 action plan:

• all actions have been implemented as business as usual for all new treatments starting evaluations with NICE
• due to length of the medicines evaluation process and number of rare disease topics using older methods or processes, the analysis of the impact of changes (for example, percentage of positive NICE recommendations made following old compared with new methods and processes for rare diseases) will be available in 2023 at the earliest

Progress report:

• the committees have used the flexibility formalised in the 2022 manual for rare diseases or conditions involving children where evidence generation is challenging on multiple occasion
• the Summary of Information for Patients has been implemented across all technology evaluations in the programme

Status (ongoing, extended or concluded): ongoing

Metrics and milestones for the 2024 action plan:

• NICE will be in a position to publish the impact of 2022 manual changes in a report by the end of 2024

Action 14: monitor overall uptake of drugs for patients with rare diseases and map geographical access to those drugs

Owner: NHS England (highly specialised services and NDRS)

Metrics and milestones published in the 2023 action plan:

• an annual report will be produced, and plans agreed as a way forward if access is deemed not equitable

Progress report:

• due to significant organisational change in 2023, limited progress has been made to secure data flows, deliverables and cross-organisation resources to support exemplar equity of access projects based on population-based, patient-level data drawn from high-cost medicines data

Status (ongoing, extended or concluded): ongoing

Metrics and milestones for the 2024 action plan:

• initial analyses on hemophagocytic lymphohistiocytosis as an exemplar but with a view to producing a reproducible analytical pipeline that can be scaled to other conditions or drugs
• Highly Specialised Commissioning will be informed of findings of the above analysis; if applicable, agree output and route of dissemination to measure impact of interventions
• if possible, the submission of a publication for peer-review describing the process and outcome
• scoping of other conditions the analytical pipeline can be applied to, in consultation and agreement between NHS England Highly Specialised Commissioning and NDRS

Action 15: map the rare disease research landscape to identify gaps and priorities for future funding

Owner: DHSC and Medical Research Council (MRC)

Metrics and milestones from the 2023 action plan:

• paper published by mid-2023
• continued work with industry and the charity sector to map the rare disease research funded by these organisations
• workshop held to identify ongoing priorities and next steps following paper publication

Progress report:

• report published September 2023 on National Institute for Health and Care Research (NIHR) Open Research
• data published on NIHR Open Data
• series of engagement events held following publication, but capacity constraints mean that the workshops will be carried over into 2024

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• research funders steering group re-convened and a meeting held to provide steer on outputs of the landscape report and next steps by April 2024
• series of workshops held by DHSC to communicate outcomes of the report and understand views of the rare diseases community on research gaps and priorities by autumn 2024
• findings from report communicated by DHSC to research funders steering group by February 2025

Action 16: reduce Health Inequalities in NHS highly specialised services - including considering health inequalities at highly specialised services annual clinical meetings, in service development and commissioning decisions, and in provider selection processes

Owner: NHS England

Status (ongoing, extended or concluded): concluded in the 2023 action plan

Action 22: improved ‘findability’ of people living with rare diseases using NCARDRS

Owner: NHS England (NDRS)

Action-specific monitoring and evaluation from the 2023 action plan:

• number of specialised services sharing data with NCARDRS
• number of rare diseases with national (England) data including prevalence and incidence figures published on NDRS website
• number of patients who have self-registered through the new system

Progress report:

• NCARDRS currently collects data from 8 highly specialised services to support rare disease registration and discussions are currently underway with other highly specialised services to set up and establish dataflows
• a rare disease prevalence tool is under development, this will increase transparency and improve understanding of the rare diseases currently captured by NCARDRS, including prevalence figures and the underpinning data sources
• the digital patient self-reporting interface was unfortunately taken down shortly after launch due to issues with platform compatibility, work is being done to get it back online but in the meantime an email-based system is available for patients to self-report

Status (ongoing, extended or concluded): ongoing

Metrics and milestones for the 2024 action plan:

• increased number of specialised services sharing data with NCARDRS; all outstanding services to be contacted regarding data sharing throughout 2024 to 2025
• publication of rare disease prevalence tool prototype and gathering of stakeholder feedback in early 2024
• digital solution for self-reporting established by end of 2024 to 2025
• continued publication of peer-reviewed work throughout 2024 to 2025

Action 23: 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

Owner: NHS England

Action-specific monitoring and evaluation from the 2023 action plan:

• number of policy impact assessments (PIAs) considered
• number of policy propositions considered by Rare Diseases Advisory Group (RDAG)
• confirmation that all provider selection exercises for patients with rare diseases have included a request from bidders for an Equality and Health Inequalities Impact Assessment (EHIA), and examples of how providers have addressed issues raised in the EHIA policy propositions
• examples of best practice in patient reported outcome measures (PROMs)

Progress report:

• 47 PIAs have been considered
• 12 policy propositions have been considered by RDAG
• NHS England routinely includes EHIAs in provider selection exercises for patients with rare diseases
• all highly specialised services have clinical outcome measures which are monitored on an annual basis, this includes PROMs specific to each condition

Status (ongoing, extended or concluded): concluded

Action 24: establish a highly specialised services programme board and strengthen the role of NHS England in commissioning wider services for patients with rare diseases

Owner: NHS England

Action-specific monitoring and evaluation from the 2023 action plan:

• Highly Specialised Services Programme Board established by June 2023
• terms of reference of RDAG revised by June 2023
• new clinical members recruited to RDAG and given an induction

Progress report:

• the Highly Specialised Services Oversight Group is now established. There have been 2 shadow meetings and 2 full meetings (May 2023 and August 2023)
• the revised version of the terms of reference of the Rare Diseases Advisory Group were agreed in April 2023 and have been published on the NHS England website

Status (ongoing, extended or concluded): concluded

Action 25: review the effectiveness of EAMS, ILAP and the IMF in supporting access to treatments for people living with rare diseases

Owner: NHS England, NICE, MHRA

Action-specific monitoring and evaluation from the 2023 action plan:

• proportion of applications which are rare disease medicines reported in 2024 action plan
• number of rare diseases medicines progressing through the schemes reported in 2024 action plan

Progress report:

• as of January 2024, Innovative Licensing and Access Pathway (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
• over 700 patients have received drug treatment through the Early Access to Medicines Scheme (EAMS), for 12 indications
• 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 Innovative Medicines Fund (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. 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
• ABPI and the BioIndustry Association (BIA) have conducted a survey of their members with responses from 20 companies to understand experience of engaging with EAMS, ILAP and the IMF

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• by May 2024, NHS England, NICE and MHRA will have met with ABPI and BIA to further understand the results of the 2023 survey on EAMS, ILAP and IMF
• by summer 2024, NHS England, NICE and MHRA will have provided a written response to the 2023 survey conducted by ABPI and BIA on EAMS, ILAP and the IMF
• further progress on this action will be reported in the 2025 England Rare Diseases Action Plan

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

Owner: NHS England

Action-specific monitoring and evaluation from the 2023 action plan:

• number of conditions with a predisposition to cancer registered

Progress report:

• regular meetings with stakeholders from NDRS, UK Cancer Genetics Group (UKCGG), NHS England Genomics Unit, NHS England National Cancer Programme and NHS England National Screening Programmes have been established
• minimum dataset has been agreed in consultation with above stakeholders
• initial gene list for inclusion in the register has been agreed in consultation with the above stakeholders with an initial focus on genes causing an inherited predisposition to breast cancer. UKCGG have surveyed clinical genetics services in England - there is widespread support for this initiative
• linkage of NDRS registry to national screening IT systems has previously been achieved (for Lynch syndrome/bowel cancer screening)
• publication of the methodology for laboratory data collections was published in 2023; publication of methodology for the Lynch registry development has recently been accepted - which will be expanded to other cancer predisposition syndromes

Status (ongoing, extended or concluded): ongoing

Metrics and milestones for the 2024 action plan:

• target initial genes prioritised by UKCGG

Action 27: improving the Be Part of Research platform for people living with rare diseases

Owner: DHSC, NIHR

Action-specific monitoring and evaluation from the 2023 action plan:

• the rare disease community will be invited to take part in private beta phase testing of the Be Part of Research platform user interface by autumn 2023
• outcomes of consultations with the rare disease community on the most effective way to categorise rare diseases studies on the Be Part of Research platform will be reported in the 2024 action plan

Progress report:

• following pilot testing by Genetic Alliance UK, a survey to understand how people with rare conditions would prefer to search for their condition on the platform ran in October 2023, and received over 200 responses
• outcomes of consultations with the rare disease community published in Annex E
• a Genetic Alliance UK representative now sits on the Be Part of Research Advisory Group

Status (ongoing, extended or concluded): ongoing

Metrics and milestones for the 2024 action plan:

• Be Part of Research will implement the recommendations from the survey from October 2023, with all milestones to be implemented by autumn 2024. These are:
• improve categorisation of health conditions on the A to Z conditions list by using survey feedback and insights from usability testing with the rare disease community. This will ensure people with rare conditions can find an appropriate category for their condition on the Be Part of Research site
• optimise the navigation on the A to Z conditions list to make it easier for people with rare conditions to find research related to their condition
• include at least one member of the rare condition community in each round of user testing for future developments to the service

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

Owner: DHSC, NHS England

Action-specific monitoring and evaluation from the 2023 action plan:

• plan for how work will be carried out developed by autumn 2023
• collation of evidence to support the inclusion of rare diseases in the ‘PLUS’ category to begin by winter 2023
• report of the work done to support the inclusion of people living with rare diseases in the ‘PLUS’ target population included in the 2024 England Rare Diseases Action Plan

Progress report:

• NIHR has begun to scope the literature and possible approaches to review questions to gather evidence on health inequalities
• an expert advisory group has been established, with representation from Genetic Alliance UK and an NIHR patient group is also providing feedback

Status (ongoing, extended or concluded): ongoing

Metrics and milestones for the 2024 action plan:

• the search protocol will be finalised by March 2024
• the scoping review will be completed by the end of 2024
• if there is sufficient evidence, an evidence synthesis will be undertaken with the aim of reporting early 2025
• findings will be reported in the 2025 rare diseases action plan and communicated with the NHS England Core20PLUS5 team

Action 29: commission portfolio level evaluation of England’s Rare Diseases Action Plans with input from the rare disease community on design of metrics

Owner: DHSC, NHS England

Action-specific monitoring and evaluation from the 2023 action plan:

• funding call launched in early 2023
• outcomes of the 2-stage application process by autumn 2023, with research commencing as soon as possible after contracting
• the outcome of the call, the successful research proposal, and progress made will be reported in the 2024 action plan

Progress report:

• a funding call was launched and the 2-stage process completed by autumn 2023
• a centre has been identified to carry out the research and the contract is currently being negotiated

Status (ongoing, extended or concluded): extended

Metrics and milestones for the 2024 action plan:

• research team and milestones for the year ahead publicly announced by April 2024 (via the UK Rare Diseases Forum and on-line platform)
• progress will be reported in the 2025 action plan

Annex B: summary of actions for 2024 to 2025

This annex includes details on each action. As in 2022, each action is underpinned by a logic model, setting out the problem the action addresses, a clear organisational owner, the outputs and outcomes that will be delivered, and the metrics used to measure progress, which will be reported on publicly.

The logic models also describe assumptions which underpin delivery of the actions, such as workforce stability, and external factors which may impact delivery, such as wider challenges to the healthcare system and competing organisational priorities.

Priority 2: increasing awareness of rare diseases among healthcare professionals

Action 30: Developing a genomics communication skills resource

Owner: NHS England (National Genomics Education)

Outputs:       

• programme funding identified
• 3 tiers of training produced for health care professionals that 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:
  • bronze - unfacilitated, asynchronous, virtually delivered learning experience
  • silver - facilitated, synchronous, technology enhanced learning experience
  • gold - facilitated, in-person learning experience
• establishment of working group and Expert Reference Group to understand their requirements

Outcomes:   

• gap analysis undertaken, identifying what resources are already available
• develop proposal for the content to be covered in each tier including specific competencies and learning outcomes informed by patients and service users
• develop evaluation plan that include qualitative and quantitative data with Expert Reference Group to report progress
• development of this resource based on feedback and evaluation of skills

Action-specific monitoring and evaluation:

• learner feedback and usage to be monitored on a quarterly basis, progress will be reported through the workforce steering group, Genomics Training Academy steering group and the England Rare Diseases Action Plan Delivery Group
• usage numbers monitored and reported in 2025 action plan
• in depth follow up of use in practise beginning at the launch of the bronze tier in quarter 2 of 2024 to 2025

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

Owner: NHS England (National Genomics Education)

Outputs:

• developing the specialist genomics workforce through the GTAC
• GEP PAGE group to provide input to the resource
• develop GTAC governance structure and operating model
• recruitment of a GTAC delivery team
• commissioning of a virtual learning environment to host, deliver and record content

Outcomes:

• upskilling of the specialist genomics workforce to the level of competence required to deliver the Genomic Medicine Service
• improvement in the quality and equity of care for patients with rare diseases

Action-specific monitoring and evaluation:

• evaluation of the GTAC model to demonstrate value for money and return on investment starting to report by quarter 4, 2024 to 2025
• number of specialist workforce available per patient population measured to be completed quarter 4, 2024 to 2025
• measure the impact of the resource on the genomics workforce training, resources and the service with a report being published in quarter 4, 2024 to 2025

Priority 3: better co-ordination of care

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

Owner: NHS England

Outputs:

• indicative funding for 2 networked models of care secured
• networked models of care for inherited metabolic disorders (600 disorders and 11,000 patients in care) established
• networked models of care for amyloidosis (incidence of 800 new cases seen at the National Amyloidosis Centre) established

Outcomes:

• patients will benefit from improved access to specialised care
• patients will be treated as close to home as possible

Action-specific monitoring and evaluation:

• proposals for networked models of care for inherited metabolic disorders and amyloidosis developed by February 2025 and reported on the 2025 action plan
• networked models of care for care for inherited metabolic disorders and amyloidosis implemented in 2024 to 2025
• progress regularly reported to the Highly Specialised Services Oversight Group

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

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

Owner: NHS England (highly specialised services and NDRS)

Outputs:

• indicative funding for the mechanism to incentivise centres to undertake full body scans secured
• develop capacity and capability to undertake and report on while body scans in geographically equitable locations
• identification and mapping of individuals with eligible conditions will be produced to support service planning and ensure geographical equity in collaboration with NDRS

Outcomes:

• individuals with rare genetic diseases pre-disposition to cancer have access to scans across the country
• individuals with relevant rare genetic diseases causing a predisposition to cancer will be identified by NDRS; geographical mapping will be produced to support service capacity or capability planning
• increased overall survival and improved clinical outcomes as cancers are detected earlier

Action-specific monitoring and evaluation:

• identify the number of eligible individuals
• number of patients receiving scans tracked
• progress regularly reported to the Highly Specialised Services Oversight Group

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

Owner: MHRA

Outputs:

• report on the Innovative Devices Access Pathway (IDAP) pilot review, and conclusions on the opportunities to support rare disease medical devices through IDAP in future

Outcomes:

• improved understanding of the effectiveness of IDAP for improving and supporting access to rare disease medical devices

Action-specific monitoring and evaluation:

• proportion of applications in the pilot which are rare disease medicines reported in 2025 action plan
• conclusions from the IDAP pilot review reported in the 2025 action plan

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

Owner: NHS England

Outputs:

• publish a toolkit in response to feedback from services

Outcomes:

• improve health equity in highly specialised services
• help teams find out health inequities in their own services
• increase understanding of other resources related to health inequalities

Action specific monitoring and evaluation:

• final version of toolkit to be published in 2024 to 2025
• monitoring of changes and actions taken within highly specialised services to reduce health inequalities

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

Owner: NHS England

Outputs:

• mapping and measuring the geographic spread of patients accessing highly specialised services by calculating the standardised coefficient of variation (SCV)
• assess whether the is systematic variation greater than expected by chance

Outcomes:

• liaise with services if the number of expected patients does not align with the actual amount of patients that are accessing the service
• identify solutions to address any inequity of access
• this will allow highly specialised services to improve access to services so more patients receive appropriate care

Action specific monitoring and evaluation:

• publication of report in 2025 action plan
• repeat exercise in 3 to 4 years to ensure any inequity of access is addressed

Annex C: additional information

CoOrdinated Care Of Rare Diseases (CONCORD) definition of co-ordination of care for rare conditions

Co-ordination of care involves working together across multiple components and processes of care to enable everyone involved in a patient’s care (including a team of healthcare professionals, the patient and/or carer and their family) to avoid duplication and achieve shared outcomes, throughout a person’s whole life, across all parts of the health and care system, including:

• care from different health care services
• care from different health care settings
• care across multiple conditions or single conditions that affect multiple parts of the body, the movement from one service, or setting to another

Co-ordination of care should be family-centred, holistic (including a patient’s medical, psychosocial, educational and vocational needs), evidence-based, with equal access to co-ordinated care irrespective of diagnosis, patient circumstances and geographical location.

Full study report:

Morris S, and others. Co-ordinated care for people affected by rare diseases: the CONCORD mixed-methods study. Health and Social Care Delivery Research 2022, Volume 10, Issue 5

Annex D: Orphanet disease names associated with the highest number of awards in the NIHR MRC rare disease research portfolio

Presentation of awards by Orphanet disease names	Number of awards (n)
Amyotrophic lateral sclerosis	44
Huntington disease	35
Motor neurone disease	32
Preeclampsia	32
Cystic Fibrosis	30
Frontotemporal dementia	28
Idiopathic pulmonary fibrosis	24
Spinal cord injury	24
Alpha-thalassemia	23
Vasculitis	23
Muscular dystrophy	22
Atypical hemolytic uremic syndrome	13
Duchenne muscular dystrophy	13
Interstitial lung disease	13
Pulmonary arterial hypertension	12
Retinitis pigmentosa	12
Sickle cell disease and related diseases	12
Systemic lupus erythematous	12
Encephalitis	11
Hemophilia	11
Spinal muscular atrophy	11
Down syndrome	10
Hemolytic uremic syndrome	10
Cleft palate	9
Human prion disease	9
Juvenile idiopathic arthritis	9
Primary biliary cholangitis	9
Primary ciliary dyskinesia	9
Uveitis	9
Charcot-Marie-Tooth	8
Ciliopathy	8
Systemic sclerosis	8

This table and chart shows the 30 Orphanet disease names associated with the highest number of awards in the rare disease research portfolio. It includes awards active between April 2016 and March 2021. It does not include awards mapped to rare infectious disease and rare neoplastic disease Orphanet groupings.

Annex E: Be Part of Research and Rare Conditions Survey report summary

The Be Part of Research and Rare Conditions Survey was a collaboration between NIHR and DHSC to improve the Be Part of Research platform. The survey aimed to understand how individuals living with or caring for those with rare conditions categorise and seek information about their conditions.

The survey looked at individuals’ conditions and the language used to talk about the condition. It then asked the participants to review the A to Z conditions list on Be Part of Research, which allows users to click a condition area and see research happening in that area. The aim of this was to understand what currently works well for the rare condition community on Be Part of Research and seek ways to improve. Participants were segmented based on whether they had a rare disease and a formal medical diagnosis or had a rare condition but not a formal medical diagnosis.

The survey was shared throughout various charities and networks working with people who have or care for people with rare conditions via colleagues at the Department of Health and Social Care. The survey aimed for 200 responses within October and closed on 31 October 2023, with 203 participants completing the survey. No demographic or personally identifiable data was collected in this activity.

Of those who responded to the survey:

• 165 were people living with a rare condition or conditions
• 42 were people caring for somebody who had a rare condition or conditions
• 4 stated that they were both living with a rare condition and caring for somebody with a rare condition
• 193 told us that they have a diagnosis for their condition
• 10 said that they did not have a diagnosis

Respondents had a wide range of conditions.

Key insights

On information-seeking behaviours the survey found that participants with diagnoses often used specific medical terms to refer to their conditions. Both diagnosed and undiagnosed participants engaged in online searches using condition names when seeking information.

Participants were asked to find categories on Be Part of Research which most closely related to their condition. Responses varied widely, showcasing the diverse nature of medical conditions and highlighting potential challenges in categorisation.

Participants were questioned on their user interaction with Be Part of Research. A significant number of participants reported not using Be Part of Research before the survey. There was positive feedback from users who had interacted with the platform. Participants noted positive feedback including the ease of use, interest in ongoing research, and awareness enhancement. Participants provided recommendations for enhancing the Be Part of Research platform, including improving categorisation, optimising the user experience, and including members of the rare disease community in future user research.

Annex F: Mental Health Workshop Report

The Department of Health and Social Care (DHSC) hosted a workshop on the topic of accessing mental health services for children and young people living with rare conditions. The workshop took place on 10 October 2023 via Microsoft Teams.

The workshop was chaired by Alastair Kent OBE FRSA, chair of the UK Rare Diseases Forum, and attended by 38 stakeholders, including representatives of:

• DHSC
• Welsh government
• charities
• patient support groups
• people with lived experience
• healthcare professionals
• researchers

Many thanks to all attendees for their input. 

The aims of the workshop were:

• to hear about the experiences of families with children with rare genetic conditions who have required access to mental health services
• to understand the challenges faced and to develop problem statements for consideration by policy makers as they seek to identify solutions

Introduction

The challenges of living with a rare condition can have a profound impact on an individual’s mental health as well as that of their family or carers. Issues with access to mental health and psychological support for people living with rare conditions has been highlighted by the community as one of 6 focus areas for future work in England’s 2023 action plan.

To gather further evidence a workshop was co-designed with Dr Jeanne Wolstencroft from UCL to better understand the challenges faced by the families of children and young people with rare conditions when accessing mental health services. Stakeholders voiced their experiences and views on current mental health provisions and what can be done in the future to better address the mental health needs of people living with rare diseases and their families.

The UK rare diseases framework

There is a focus on mental health in the England 2023 action plan as it was highlighted in feedback on the 2022 action plan as an area where further progress needed to be made.

The following actions from the 2023 England Rare Diseases Action Plan target addressing the mental health issues this community faces:

• all new and revised service specifications for patients with rare diseases will be required to consider user’s psychosocial needs and ensure co-ordinated pathways for access to mental health support
• commissioning research to provide the evidence needed to operationalise better co-ordination of care in the NHS (specifying that this should include approaches that address integrating mental health support into rare disease clinical care)
• the NHS Workforce Education and Training directorate will look at developing further educational content as part of their GEP, to support mental and psychological health for those living with rare disease and their families

Outside of this action plan, other reports detail actions to be taken to improve mental health service delivery; the NHS Long Term Plan, NHS Long Term Workforce Plan and Major conditions strategy: case for change and our strategic framework.

Research into mental health and rare conditions

Dr Jeanne Wolstencroft from the UCL Great Ormond Street Institute of Child Health presented her findings from the study on mental health in children with an intellectual disability of genetic origin. She highlighted that these children are disproportionately affected by mental health conditions and other psychiatric disorders including anxiety, behaviour difficulties, attention deficit disorder (ADHD) and autism.

Furthermore, many children are turned away from Child and Adolescent Mental Health Services (CAMHS) because the child has a rare genetic condition, despite their being no evidence that children with rare conditions will not respond to generic treatment, help or support.

Furthermore, a study published by Genetic Alliance UK found that 48% of people living with rare conditions and carers have never been asked about their mental health so it is difficult to know what good mental health looks like for them. This highlights the large unmet need for mental health support for people living with a rare condition, their families and carers. Participants of the workshop suggested that clinicians need to be informed on what charities they can direct people to that are offering support.

The Acceptance and Commitment Therapy (ACT) in Tuberous Sclerosis Complex (TSC) trial

Dr Sam Amin, a paediatric neurologist and associate professor at the University of Bristol gave a talk on the use of acceptance and commitment therapy (ACT) for people living with tuberous sclerosis complex (TSC). TSC is a rare genetic condition caused by a mutation in TSC1 or TSC2 resulting in growths in the body. People living with this condition have multiple comorbidities that can affect the whole body including the central nervous system (CNS) and brain. A trial is being conducted to establish if ACT in this population is feasible and can be delivered remotely. Early data has suggested early acceptability with 86% of eligible patients opting to take up the intervention.

Integrating physical and mental health at Cambridge Children’s Hospital

Dr Isobel Heyman, a consultant in child and adolescent psychiatry and an honorary professor at the UCL Great Ormond Street Institute of Child Health gave a talk on integrated physical-mental health vision and planned practices of the new Cambridge Children’s Hospital. It has been known for a long time that children with physical health conditions have high rates of mental ill-health. Children with a chronic condition have 2 to 6 times higher chance of metal health problems. Data from 1970 showed the chance of mental ill-health increases with rare and complex diseases. To address mental health problems in children living with rare conditions many generic mental health treatments could be efficacious. Dr Heyman also noted that using generic methods could mean the needs of some children might not be addressed as their rare conditions might mean interacting with these services might be difficult particularly if they have learning difficulties or intellectual disabilities. (A view supported by other members of the workshop in discussion.) A case vignette was presented of a child living with a rare genetic condition with an escalator phobia. Generic phobia treatment was found to be efficacious and cost-effective at the NICE threshold of £20,000 to £30,000 per quality-adjusted life year (quarter ALY).

In Great Ormond Street Hospital, a mental health drop-in booth was trialled as a method of making mental health care more accessible for patients already accessing physical care for their rare conditions in the hospital. This drop-in booth was found to be more accessible for patients who identify as black or Asian than traditional mental health services such as children and young people’s mental health services.

Families of patients who attended the workshop agreed that integrating physical and mental health care would be beneficial for themselves and their child. A father of a child living with a rare condition said he and his whole family had benefited from a physiological team embedded in a palliative care team where his daughter is treated.

Lived experience of a parent caring for a child with a rare disease

Michelle Cook is a carer for her child who has a rare condition, and she works for an integrated care board (ICB). She explained it often requires an incident to receive some sort of mental health support and suggested preventative measures and early intervention would be beneficial. Furthermore, she found informal peer groups of people who had been through similar experiences particularly useful in supporting her and recommended making it easier for people to connect to such support. Her child had challenges with the education system, and she suggested an integration of mental health support for children with rare conditions into education would be beneficial.

DHSC noted there is currently a rollout of NHS mental health support teams in schools and colleges, which will cover 50% of pupils in England by March 2025.

Key themes from the group discussion

Improving education, awareness, and accessibility of mental health services

Children were often unable to access mental health services until their genetic testing had been completed. Even in cases where a diagnosis had been made, a parent of 2 children with rare conditions noted that this does not necessarily lead to support. Diagnosis can also mean that children are labelled as too complex to treat by mental health services. To overcome these barriers, it was suggested that children should be treated for their mental ill-health presentation such as anxiety rather than focusing on their rare condition in isolation. It was also suggested that training for teachers, social workers and health care professionals on rare diseases would ensure children’s mental health needs were met and not exacerbated by these professionals. The TSC association offers a training course for teachers and has received good feedback, they are currently developing a course for social workers.

Support groups

Many parents found support groups helped them to deal with their mental health and the mental health of their children with rare conditions. Whilst support groups can be very beneficial for many families not everyone wants to or is able to join a support group so help must be made available through public services.

Success stories

There are many challenges in treating mental ill-health in children living with rare conditions. Therefore, it is important to learn from success stories in this field. The All Wales Cystic Fibrosis Service has provided help for families and children with rare conditions successfully, lessons could be learned on how this scheme could be replicated across the 4 nations. In Scotland they have created a non-disease specific toolkit that people could use to educate themselves on rare conditions, rolling this out across the public sector could benefit people living with rare conditions. The TSC association has a webchat and call service with operators trained in safeguarding, setting up a similar service for families and children with other rare conditions could help them with mental health challenges.

Problem statements

A summary of the key problems highlighted by stakeholders in this discussion were: 

• children with rare conditions and their families often struggle to access mental health and psychological support services
• children can be denied access to children and young people’s mental health services  due to the complexity of their needs associated with having a rare genetic condition
• access to mental health services sometimes occurs only after an incident has happened
• patient support organisations play an important role but often struggle to provide mental health support to children and carers of children living with a rare condition

Proposed solutions

This discussion also yielded some potential solutions ICBs could implement:

• embedding mental health services alongside physical health services and ensuring practitioners are aware of services they can signpost people living with rare conditions to
• ensuring children and young people’s mental health services are aware of the requirement to offer services to children and young people with rare conditions based on their mental ill-health presentation
• ensuring children and young people’s mental health services have adequate training to ensure children with rare conditions can receive treatment for their mental health problems
• work to ensure children living with rare diseases have access to mental health services from the beginning of their diagnosis odyssey
• provide training and signposting materials for patient support organisations to ensure members of these organisations and the wider patient community have access to professional mental health care

Conclusion

Stakeholders highlighted that generally the provision of mental health care to families and children living with rare conditions is poor. To improve this, it was suggested that health, social care and education sectors must work together to deliver accessible mental health care to this population. Co-ordination and continuity across these sectors coupled with early intervention could lead to real change for children living with rare conditions, their families and carers. Stakeholders noted that delivering care that focuses primarily on the mental ill health of patients rather than focusing on their rare condition could prove an effective way of ensuring people with rare conditions do not ‘slip through the net’. Alternatively, it was also discussed that education of healthcare providers, teachers, mental health practitioners and social workers could aid in ensuring they can meet the mental health needs of families and children living with rare conditions.