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Rare disease data registration stakeholder event report

The National Disease Registration Service (NDRS) and Department of Health and Social Care (DHSC) hosted a workshop in partnership on the topic of rare disease registration. The workshop took place on Tuesday 6th December 2022, was held via Microsoft Teams and was attended by almost 40 people representing both NDRS and DHSC stakeholders.


‘Digital, Data and Technology’ is an underpinning theme of The UK Rare Diseases Framework (2021). This workshop conveyed the importance of effective use of data and rare disease registration in delivering the ambitions of the UK Rare Disease Framework. The opportunities and challenges of population-based rare disease registration was discussed. Stakeholder feedback on the existing rare disease registration services, including the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), was gathered and understanding of the data-related needs of stakeholders was increased.

To view the workshop recording visit the NDRS webinar page.

The workshop was chaired by Alastair Kent OBE FRSA, chair of the UK Rare Diseases Forum, and attended by almost 40 stakeholders, including representatives from:

  • National Disease Registration Service (NDRS)
  • Department of Health and Social Care (DHSC)
  • NHS England
  • Genomics England
  • Congenital Conditions and Rare Diseases Registration & Information Service for Scotland (CARDRISS)
  • European Union Platform on Rare Disease Registration
  • Charities (Genetic Alliance UK, Medics 4 Rare Diseases, Scleroderma & Raynaud's UK, Multiple System Atrophy Trust, UK Thalassaemia Society)
  • Association of the British Pharmaceutical Industry (ABPI)
  • BioIndustry Association (BIA)
  • Orphanet
  • UK Rare Diseases Forum

The workshop was opened with a welcoming address from Alastair Kent, that outlined the importance of the topic of rare disease registration. The workshop began with three talks on work that was currently in progress in the field of rare disease registration. 


The importance of data in delivering The UK Rare Diseases Framework (2021) and England's Rare Diseases Action Plan (2022)

The first talk was from Kath Bainbridge, Head of Genomics Science and Emerging Technologies, Department of Health and Social Care (DHSC), and introduced ‘Digital, Data and Technology’ as an underpinning theme of the UK Rare Diseases Framework and, more widely, how health data is a priority for government, as set out in the Data saves lives: reshaping health and social care with data (2022) strategy. Data plays a key role in delivering the Framework vision, including data use in coordination of care; provision of health services; identifying and addressing inequalities; data-driven research; and finding and involving people in research. The importance of bringing together health data, including genomic data, to build population-based registers was highlighted, as well as the need for interoperability between registries and datasets, including collaboration across the four nations and internationally.

New commitments related to data and rare disease registries are planned for the 2023 England Rare Diseases Action Plan. Although set against a challenging context for the NHS, and with the National Disease Registration Service (NDRS) about to transition from NHS Digital into the new NHS England, this workshop aimed to highlight the immense opportunities for the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), which is part of NDRS, and facilitate discussions to shape its future.

You can find out more about the Data Saves Lives strategy on the DHSC website.

The challenges and opportunities of disease registration through the National Congenital Anomaly and Rare Diseases Registration Services (NCARDRS) lens

Sarah Stevens, Director of NDRS delivered the second talk which explained the background of NDRS and key ways of working. 

NDRS is split into two disease registries that cover England: the National Cancer Registration and Analysis Service (NCRAS) and the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS). NDRS is England-focussed but works closely with counterpart colleagues in devolved nations. The overarching aim of NDRS is ‘to drive improvements in population health and patient outcomes as a globally trusted curator of high-quality disease registration data, enabling and providing expert, timely analysis and insight’. The core business of NDRS falls under five categories based upon delivery of the Data saves lives strategy: trusted and transparent; supporting direct care and improving patient outcomes; improving population health; planning and improving services; supporting research and innovation.

NDRS takes a multi-source approach to data collection to ensure high case ascertainment and data completeness, with an emphasis on reducing the burden of collection for data notifiers. Additionally, NDRS supports secondary care teams to reduce the burden on coding, collation and submission of data as NDRS registration teams collate, curate and quality assure the data. Registration data is stored in a secure data management system where it can be linked with other data sources. The data is then made available to those that have permission to access it, for example, NDRS analysts, researchers or charities. Knowledge gained from these data are shared with NHS policy makers, commissioners and others to inform evaluating service provisions, addressing health inequalities, identifying environmental risk factors and improving health outcomes for patients by providing evidence for actionable use.

NDRS works in partnership with many key stakeholders, including academia and voluntary sectors, both nationally and internationally. NCARDRS collects data from 244 healthcare providers in England, into one national data management system. At the time of the workshop, NCARDRS collected data on over 1,800 rare diseases, and this is continuing to expand. Additionally, at the time of the workshop, NCARDRS had produced 34 peer-reviewed abstracts and journal articles.

Rare disease registration in action – clinical outputs

In this talk Peter Lanyon, Consultant Rheumatologist Nottingham University Hospitals NHS Trust and Rare Disease Clinical Lead National Disease Registration Service introduced the strategic importance of national disease registration in delivery of the UK Rare Diseases Framework, to improve the lives of people living with rare conditions. England has some of the best healthcare data in the world and has the potential to build the largest population-based rare disease cohorts globally. A data driven, clinically led approach is required to harness this and turn theory into action, which fall under three themes: identification, consolidation, participation.

A case study of haemophagocytic lymphohistiocytosis (HLH) research was given as a clinical example of the use of data for identification. HLH is an ultra-rare disease of all ages that can be genetic (familial) or acquired. HLH is difficult to diagnose and has a high mortality rate but a recently published research paper has helped to understand more about its occurrence.  This research aimed to quantify the incidence of diagnosed HLH and examine temporal trends in relation to age and associated diseases over a 15-year period (2003-2018). National electronic health data from both hospital admissions and death certification, where HLH was diagnosed, were used to calculate incidence rates of diagnoses HLH, and model incidence trends and interactions. The methods used in this research were reproducible and scalable.

The Registration of Complex Rare Diseases – Exemplars in Rheumatology (RECORDER) project was given as a clinical example of the use of data for consolidation. This project aimed to find new ways to collect data about people with rare autoimmune diseases, and to find out how to use this data to improve understanding of rare diseases and the care patients receive. The RECORDER project brought together an umbrella group of similar conditions to create a larger cohort for the study of several rare diseases. This project established methodologies for identification, validation and registration, with NCARDRS, of people who have later onset, non-genetic rare diseases, using an exemplar group of conditions. This was enabled through NCARDRS’ access to national routinely collected healthcare datasets, such as hospital admissions data. NCARDRS data was then combined with additional datasets held by NHS England to study Covid-19 infection, admission and death among the RECORDER cohort. The RECORDER project overcame many of the traditional barriers to research and produced clinically important output that has been shared with patient charities, NHS England and the National Institute for Health and Care Excellence (NICE). 

Finally, the mass evaluation of lateral flow immunoassays for the detection of SARS-CoV-2 antibody responses in immunosuppressed people (MELODY) study was used as a clinical example of the use of data for participation. MELODY is an example of pioneering research that involved over 23,000 research participants and utilised the NHS Blood and Transplant dataset, alongside NDRS datasets (NCARDRS and NCRAS) to identify and recruit people who have received solid organ transplants, people with rare autoimmune diseases and people who have had a diagnosis of blood cancer. This facilitated the creation of a cohort with commonalities across several rare diseases. In this study, participation burden was reduced by participants completing the study requirements in their own home. Data were collected and analysed to assess the impact of vaccines on the level of antibody response to COVID-19 in immunosuppressed individuals. This study demonstrated how data could be monitored in the community to define a spectrum of risk at a population level.

The pre-print version of the latest paper from the MELODY study is available to read.

At the time of the workshop, there was much ongoing work surrounding the use of rare disease registry data for clinical outputs. This included work to deliver the UK Rare Diseases Framework and England’s Rare Disease Action Plans; academic partnerships; collaboration between NCARDRS and academic institutions in UK Rare Disease Research Platform funding applications; work to leverage existing external registries; providing support for clinical trials; launch of the NDRS self-registration portal; work to understand and meet stakeholder needs.

Presentation discussions

Following the three talks, attendees discussed the role of the European Platform on Rare Disease Registration. This Platform aims to overcome the fragmentation of rare disease registries across Europe, by making rare disease registry data discoverable, searchable and findable. This facilitates collaboration between registries, maximises the value of each registry’s information and enables extended use of registries’ data. International interoperability of rare disease datasets is required to meet stakeholder needs. The Platform facilitates pseudo-anonymisation and data-linkage between registries, to enable encrypted and secure data transfer.

Find out more about the European Platform on Rare Disease Registration on their website.

Attendees also discussed the importance of routinely collected diagnostic data accurately reflecting the patient experience and being kept up to date. It was noted that transparency around information governance of rare disease registries, including how research participants are approached and consent is obtained, is important. The development of reproducible analytical pipelines for investigating rare disease registry data, and the availability of NDRS data through NHS England’s Secure Data Environments, both represent powerful opportunities. The capacity and sustainability of NCARDRS was also discussed, with a view to how organisations and charities could most effectively work in partnership with NDRS to expand NCARDRS.

Attendees then moved to one of four breakout rooms, for in depth discussions on selected topics and pre-assigned questions. Each breakout room hosted attendees with a range of experience and backgrounds.

Breakout rooms

Breakout room 1: National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)

Facilitator: Mary Bythell, Rare Disease Lead, National Disease Registration Service (NDRS)

What are the main priorities for the rare disease community with regards to NCARDRS?

The rare disease community has several priorities with regards to NCARDRS, primarily surrounding efficient use of data. For example, participants expressed the view that, existing rare disease data should, where possible, be shared with NCARDRS. To facilitate this, data should be shared more freely between different organisations, such as between NCARDRS, NHS Genomics Medicine Service, NHS England and Genomics England. Additionally, registries owned by rare diseases charities and patient groups should seek to work synergistically with NCARDRS to ensure resource is not wasted. Data held by NCARDRS should be used to improve equity of access to treatments by providing the evidence base required by regulators. As well as there being an emphasis on high ascertainment, participants were of the view that data should be collected on people’s conditions and treatments. And finally, collecting geographical data could be used to ensure support for local healthcare services is appropriately allocated.

How can we improve transparency and awareness of national rare disease registration?

Participants emphasised that it is crucially important to involve the rare disease community to improve transparency and awareness of data registration. Furthermore, awareness must be increased about the importance of data collection and how data are kept safe and used. This could be achieved through the formation of an NCARDRS patient advisory or steering group. The rare disease community would welcome the use of rare disease registries to emphasise that rare diseases are individually rare, but collectively common. Additionally, the ability to self-report to registries would also be welcomed by the community.

What are the opportunities for national disease registration to generate real world evidence to support the understanding of rare diseases and outcomes for those that have them?

Attendees noted that the MELODY study was a good example of how the data of people who had rare autoimmune conditions was used during the pandemic to track Covid-19 outcomes. Additionally, it would be interesting if rare disease registry data could be used to aid understanding of the causes of death of people with rare diseases.

Breakout room 2: Registries and collaboration

Facilitator: Kath Bainbridge, Head of Genomics Science and Emerging Technologies, Department of Health and Social Care (DHSC)

What are the main challenges surrounding the use of rare disease registries, in their current form?

Attendees noted that NCARDRS collects data from NHS routine activity data, which misses information about patient experience, and that it would be beneficial for registries to collect a wider range of data beyond NHS routine activity data. For example, there is a need for increasingly detailed information to be held on conditions, such as genomic data, although it must be established if these data should be held in national registries or in local hubs.

Participants noted that individual registries are structured and organised differently, with different purposes and this creates challenges in bringing data together. Therefore, there needs to be semantic interoperability between registries, for example through the development of data dictionaries and catalogues, although this is complex. Simplifying frameworks for appropriate data collection and sharing would be invaluable, including cross-border interoperability. The same tools must be used across registries for pseudonymisation, data exchange and data quality assurance. It was noted it could be overwhelming for clinicians to navigate different systems and permissions to establish connections and access registry data, whilst maintaining responsibility for complying with GDPR requirements. Additionally, the time required for data capture, access and release is an important, and often challenging, factor. Depositing data into, and requesting data from, registries should be as simple as possible.

Participants thought it would be useful to increase awareness of NCARDRS among the rare disease community and the idea of a virtual ‘roadshow’ was suggested. This would be beneficial in increasing awareness of the data that is collected by and available through existing registries.

How can registries best collaborate?

Participants agreed that registries should be harmonised, visible and accessible to the rare disease community and the wider public. Registry data should be findable, exchangeable and have a common access point. A unified registry platform that enables individuals to find out what registries exist, what data they collect and what data is available through them would be highly valuable and facilitate registry interoperability. The European Union Platform on Rare Disease Registration could support this. The NHS England Secure Data Environment could also bring data held across the health system together.

What are the opportunities for NCARDRS working with and supporting existing and new registries?

Participants expressed the view that a strategic vision and common data framework are needed to coordinate and unify registry collaboration. If NCARDRS were to lead this, it could become a registry of registries. Harmonisation of registries would simplify the rare disease registry environment, and a centralised way of coordinating and linking data between registries would help to maximise the use of existing data. For example, registry collaboration would facilitate effective use and re-use of existing data, preventing data wastage or replication. Additionally, having a central registry would make data reporting as easy as possible for healthcare professionals, supporting clinical research and reducing participation burden. Registries should also facilitate the collection of additional information over time.

Breakout room 3: Self-reporting

Facilitator: Lauren Watson, Rare Diseases Lead, Department of Health and Social Care (DHSC)

Why is it important for people to be able to self-report to registers?

There is a feeling that ‘if you are not counted you do not count’. Therefore, self-registration gives people living with rare diseases the power to be counted, which is empowering and enables advocacy and recognition. Furthermore, participants noted it is likely that many people living with a rare disease would like the opportunity to share their data if it is going to be used effectively for improving outcomes. Self-reporting is important for people who are not often seen in hospitals and specialist centres or were diagnosed a long time ago. Additionally, self-reporting could reduce geographical health inequalities. Self-reporting is particularly important for ultra-rare diseases, and a useful avenue for patients to fill gaps in data from other sources. It was noted that inclusion of the ability for an individual to report quality of life measures to rare disease registries would be welcomed by the rare disease community. However, validation and quality assurance of self-reported data would be essential for it to be accepted and utilised by regulators.

How can self-reporting be promoted throughout the community?

Attendees suggested NCARDRS should work with patient advisory and advocacy groups, and their networks, as these are effective ways to reach several people. NCARDRS could encourage organisations that hold their own registries to report their data to NCARDRS. In return, NCARDRS could work to provide the evidence base needed for regulators. Additionally, healthcare providers should be encouraged to signpost to self-registration with NCARDRS and to encourage routine participation in research trials as part of the treatment pathway. NHS England’s commissioned services could be used to promote self-registration, through service specifications, clinics or clinic letters. NICE’s managed access scheme could also be used as a route to signpost people to self-registration. Additionally, self-registration could be advertised through social media platforms.

Increased communication following self-registration would be welcomed. This could be used to capture patient reported outcome and/or experience measures (PROMS and PREMS) in registries. The importance of self-reporting must be explained and understood, to prevent individuals feeling like duplicate data is being collected. It must be respected that people living with a rare disease have often had to repeat data reporting several times.

Breakout room 4: Funding

Facilitator: Steven Hardy, Head of Genomics and Rare Disease, National Disease Registration Service (NDRS)

In a resource restricted environment, what are the opportunities for external funders, including industry, to support NCARDRS activities and ambitions?

Participants noted that if the rare disease community wanted to focus efforts on creating one national rare disease registry (NCARDRS), then this statement must be made clear to all stakeholders and funders to create a step-change in approach. Otherwise, duplication of efforts and funding would occur. There is power in numbers.

The importance of industry funding was recognised. However, it was also noted that it is important to recognise that funding of registries is a long-term commitment. Therefore, funders (including industry) must understand what the benefit is for them, such as data access. The ownership of data in registries must be clearly defined and cover all stages from collection and storage, to use and analysis. There are benefits of public, rather than private, ownership of data. Therefore, charging industry to use a government funded initiative could be more sustainable than industry funding.

Are you aware of any successful models of non-directed industry engagement with rare disease activities?

Participants noted there was much interest from industry in registries, however there are also challenges around consent and data collection. Registries provide opportunities to increase the visibility and understanding of under-studied conditions. Therefore, non-directed industry engagement would be required to ensure that there is funding across a broad range of rare diseases and that funding is not only directed to conditions where there is a clear pharmaceutical target already in the pipeline.

The partnerships between Genomics England, NHS England and the NHS Genomic Medicine Service is a good example of industry engagement. Additionally, the UK Bioindustry Association (BIA) Rare Disease Industry Group (RDIG) is an example of successful industry engagement and funding to support rare disease activities. Rare disease registries could take example from the success of the UK Biobank in collecting data in a coherent manner.

How can the patient voice be best captured regarding industry funding?

Transparency of information governance processes and building trust around data collection and use is important, particularly for non-consented data collection that underpins NCARDRS activities. Registries should be co-created in partnership with people living with rare diseases. Patient voice should be prioritised, and communication should remain open at all stages of projects: from planning, to development, to progress, to outcomes. It is also vital to capture the voice of those who are harder to reach. Appropriate language and accessibility are important; plain language is required to ensure the greatest level of understanding across a broad range of voices. Additionally, the real and tangible benefits of data collection and registries on the lives of people living with rare diseases should be highlighted.


Several themes surrounding data arose during the workshop. A thread running through all discussions was that data must be used efficiently, effectively and equitably. It is important to ensure data is carefully protected, but also shareable, and transparency is key. Individual’s contributions to registries must not be minimised or repeated, and ultra-rare conditions must not be left behind. There are great opportunities to enhance the value of information contained within NCARDRS, and these should be capitalised on. In conclusion, there is a lot of support for NCARDRS from the rare disease community, and enthusiasm to see it succeed.

NRDS and DHSC intend to hold a second workshop in autumn 2023 to continue build on the initial discussions that were started in this workshop, focusing on identifying solutions to the challenges raised.

Many thanks to all attendees for their valuable input.


Last edited: 27 February 2023 3:27 pm