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Development and progress of the National Congenital Anomaly and Rare Disease Registration Service
  1. Sarah Stevens,
  2. Nicola Miller,
  3. Jem Rashbass
  1. National Disease Registration, Public Health England, London, UK
  1. Correspondence to Sarah Stevens, National Disease Registration, Public Health England, Skipton House, 80 London Road, London, UK; sarah.stevens{at}phe.gov.uk

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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 …

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