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.