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The challenge
Public Health England (PHE) was formed in April 2013; at that time, regional congenital anomaly registers covered just 49% of births in England.1 A national congenital anomaly surveillance system managed by the Office for National Statistics did exist in the past but was closed in 2010 following concerns about the quality and completeness of the data.2 A number of geographical regions, including London, the South East, the North West and the East of England, had no coverage. All the registers belonged to the British Isles Network of Congenital Anomaly Registers (BINOCAR) and most were members of the European Surveillance of Congenital Anomalies (EUROCAT). BINOCAR went some way towards standardising the ways in which data were coded and reported, but cases were sometimes lost to regions with no reporting mechanism, comparisons between regions collecting data were not always easy, and the usefulness of data was sometimes limited by the incomplete picture in England. Funding for the individual registers was precarious, each register invested in its own separate data management system, and data collection was largely a paper-based manual system that was administratively dense.
High-quality data and the information derived from it is central to any healthcare system; it underpins high-quality patient care, research, commissioning decisions, public health and much more. Collecting data on common diseases is challenging; on rare diseases data are scarce and often fragmented. There are between 6000 and 8000 rare diseases worldwide; 75% affect children, and 30% of patients with rare disease die before the age of 5.3 Most congenital anomalies are rare, and EUROCAT estimates that 12%–15% of the estimated total persons affected by rare diseases in Europe have congenital anomalies.4 Patients have complex care pathways, present through a wide variety of routes and through many different providers.5 At a technical level the information is held on disparate clinical systems that do not talk to each other. Even the true incidence and prevalence of individual rare diseases are often unknown,6 let alone detailed information on their clinical manifestations, cause and outcome.
To help address these challenges, PHE launched the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) on 1 April 2015.
Establishing a national service
Much of the thinking for the design of the NCARDRS is based on working closely with BINOCAR and lessons we learnt from the creation and management of PHE’s National Cancer Registration and Analysis Service, now one of the largest, most timely and comprehensive cancer registration services anywhere in the world. This included being able to use the infrastructure, facilities, expertise and extension of the robust information governance framework that existed for cancer. We were also able to capitalise the existing relationships with many providers across the National Health Service (NHS) and engagement with patients and carers,7 8 charities and clinicians. Economies of scale and shared resources have allowed us to deliver national coverage of congenital anomaly registration with just a 20% increase in budgets for the existing registries.
Using congenital anomaly and cancer registration as the starting point, the intention is to expand out to collect data on other rare diseases. Population-level registers have traditionally been used in public health as a source of data to support epidemiology and surveillance. Increasingly, registry data are also being used to support and empower patients, inform research and drive wider healthcare system aims,9 for example, as a data source for clinical audits, to monitor and evaluate the efficacy and outcomes of screening programmes and to evaluate treatment effectiveness. Our aim is to provide a comprehensive national registration service for all congenital anomalies and rare diseases diagnosed and treated in England to support these activities. The power of NCARDRS increases markedly when linked to other healthcare and national data sets: for example, linkage with Office of National Statistics death registrations, Hospital Episode Statistics (HES), NHS Prescription Service and education data. The advent of big data, machine learning and artificial intelligence has the potential to fuel explosive growth in this wider arena.
Information governance
Data are collected under legal permissions granted under Section 251 of the NHS Act 2006. Renewal of this approval must be sought annually from the Confidentiality Advisory Group of Health Research Authority (HRA). Recognising the extraordinary privilege of Section 251, NCARDRS has very strict policies approved by PHE and HRA that cover data collection, storage and release. Patients have an absolute right of opt-out from the register and patient information is available online and in print.
Data collected
Data are collected on all suspected and confirmed congenital anomalies and rare diseases identified in utero, at birth, in childhood or as an adult. In addition to live births and stillbirths affected by congenital anomalies, information about terminations of pregnancy with a diagnosed fetal anomaly at any gestation and late miscarriages (20–23 weeks’ gestation) where an anomaly is present is also collected. We use EUROCAT and Orphanet international classification of congenital anomalies and rare diseases, respectively, for case definitions. Identifiable information is collected only insofar as it is needed to avoid duplicate registrations and for the validation of cases, ensuring accurate matching between antenatally diagnosed cases and postnatal notifications.
Data are collected from a number of multiple independent sources (figure 1) to maximise and validate the detail of each case. We do not rely on individual case reports. Providers send us any information that they have readily available, even if it is partial, registration staff, then link this information together. This proactive multiple-source capture enables NCARDRS to achieve the highest possible ascertainment and completeness of cases in the population. Notified cases remain at the level of suspicion until diagnostic data are received and cases can be confirmed with reference to an anomaly-specific protocol. Demographic data are validated using Summary Care Record (NHS Digital) for both electronic and manually entered data.
National Congenital Anomaly and Rare Disease Registration Service data sources. MBRRACE, Mothers and Babies, Reducing Risk through Audits and Confidential Enquiries across the UK; and NICOR, National Institute for Cardiovascular Outcomes Research, which manage the national congenital heart disease audit. Both audits are commissioned by the Healthcare Quality Improvement Partnership (HQIP). GP, general practitioner; NHS, National Health Service; ONS, Office of National Statistics.
Rare disease case definition
Orphanet definitions are used as the basis for case definition.
Orphanet is an international rare disease and orphan drugs portal that aims to increase awareness of rare diseases and improve diagnosis, care and treatment of patients with rare diseases. Orpha code is an international rare disease classification system produced and managed by Orphanet. The Orphanet database, which is freely available online, maps Orpha codes to several other disease coding classification systems including ICD-10, SNOMED-CT and OMIM.
Exclusions
Some rare diseases included in Orpha code already captured by Public Health England; rare cancers (National Cancer Registration and Analysis Service) and rare infectious diseases (Health Protection).
Acute diseases best described by their incidence, not prevalence: for example 98918, acute pure motor Guillain-Barré syndrome, and 90062, acute hepatic failure.
Acute events of other kinds, such as poisonings, for example, 38124, colchicine poisoning, and adverse events, for example, 90079, anthracycline extravasations.
Progress so far
NCARDRS incorporated the existing seven regional congenital anomaly registersi and the National Down Syndrome Cytogenetic Register. In those parts of the country where there was no data collection new regional teams have been established—we now have national coverage. A period of intensive training has taken place to ground new staff in the registration of congenital anomalies, as well as development training for existing registration staff to ensure standardisation. Congenital registration had a long history of dedicated, specialist staff and the vast majority stayed with us. Their expert skills and experience now benefit the whole service. We have also maintained and strengthened the essential input from expert clinical and scientific advisors.
We have established new ways of working, developing robust national systems and process, and a single, secure national data management system is in place. Its design, development and implementation have been completed in-house using open-source software tools. All notifications are now electronic and we now receive electronic data from all the cytogenetic laboratories in the country, with biochemistry laboratories next.
Although data reporting to NCARDRS is now part of the National Screening Committee service specifications, notification is not a mandatory requirement—it depends on the goodwill of clinicians. We accept data in the electronic format that is simplest for the user to supply, keeping the burden on clinical time to a minimum. Electronic records have undoubtedly improved accessibility and timeliness of data; however collating information from disparate electronic systems remains a challenge. Despite the wealth of data available, the ability to investigate and pursue local hard-to-find data is essential for comprehensive registration. Experience indicates that data quality is enhanced where registration staff develop a collaborative working relationship with hospital trusts, laboratories and health professionals.
How to notify
Through our secure online portal, https://nww.api.encore.nhs.uk/ncardrs/ (within the N3 network).
Email transfer via nhs.net
Through secure file transfer, commonly used for transferring spreadsheets containing patient data.
Establishing a download direct from the clinical system.
Enabling remote access to hospital systems by our registration staff.
Expansion to other rare diseases is underway. Information governance arrangements are in place for all of the major children’s hospitals in England, with electronic data now flowing from several centres. We are working with providers to identify ways that we can link to local IT and patient records systems to capture relevant information for outpatient data. This work is particularly important as current systems for the coding and classification of rare diseases are limited. Most rare diseases do not have a unique International Classification of Diseases tenth revision (ICD)-10 code,10 and cannot therefore be directly ascertained using existing routine data sources such as HES. The problem may be mitigated by initiatives to introduce Orpha and SNOMED-CT coding.11 In addition, we are exploring the feasibility of developing a patient portal, enabling patients the ability to self-register. A work plan outlining our plans for rare disease expansion to 2020 will be produced by the end of the year.
We have learnt a huge amount and faced many challenges. Some of these have been technical, but the largest undertaking for all has been the substantial organisation and personal change management that has been required to achieve this level of service transformation.
Outputs
It is only when the data collection system and the data derived from it are used that the value of this service transformation is truly realised. 2017/2018 will be the first year to have a complete picture for England on detection and prevalence of congenital anomalies. In July 2017 we produced congenital anomaly statistics for 2015 and in October reported back to every Trust in England with an analysis of the data they have provided over 2015/2016. The report provides an overview of their own case ascertainment and quality of reporting together with outcome measures for the fetal anomaly screening programme. We aim to build on this to ensure that we provide more timely, patient-level feedback to clinical teams on their own patients. We are also working on establishing mechanisms for better data outputs to patients, the public, researchers and other stakeholders.
Conclusion
NCARDRS is a much-needed resource to improve patient care, inform healthcare planning, for the development of public health policies and interventions, and to develop research in the fields of congenital anomalies and rare diseases. We have made huge progress in establishing the service over the first 2 years, and although we still have some way to go, we now have a solid foundation, with national coverage, from which we can begin to provide the high-quality data so vitally needed.
Further resources
Confidentiality Advisory Group. http://www.hra.nhs.uk/about-the-hra/our-committees/section-251/cag-advice-and-approval-decisions/ NCARDRS CAG reference CAG 10-02(d)/2015.
UK Rare Disease Strategy. https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/260562/UK_Strategy_for_Rare_Diseases.pdf
European Surveillance of Congenital Anomalies. http://www.eurocat-network.eu/
PHE Office of Data Release. https://www.gov.uk/government/publications/accessing-public-health-england-data/about-the-phe-odr-and-accessing-data
Acknowledgments
We would like to thank all the NHS Trusts and heathcare staff who notify cases to NCARDRS. This article was conceived by Martin Ward-Platt.
Footnotes
↵i CAROBB, Congenital Anomaly Register for Oxfordshire, Berkshire and Buckinghamshire; SWCAR, South West Congenital Anomaly Register; WANDA, Wessex Antenatally Detected Anomalies Register; NorCAS, Northern Congenital Abnormality Survey; WMCAR, West Midlands Congenital Anomaly Register; EMSYCAR, East Midlands and South Yorkshire Congenital Anomalies Register; and YHCAR, Yorkshire and the Humber Congenital Anomalies Register.
Contributors The article was written by SS and modified by contributing authors, NM and JR.
Competing interests None declared.
Provenance and peer review Commissioned; externally peer reviewed.