Updated: Updated November 2015.
To develop and run a national congenital anomaly and rare disease registration service for England.
As a resource for:
Patients, families and carers, clinicians, researchers, commissioners and public health professionals.
This registration service will:
provide a resource for clinicians to support high quality clinical practice
support and empower patients and their carers, through the provision of information relevant to their disease or disorder
provide epidemiology and monitoring of the frequency, nature, cause and outcomes of these disorders
support all research into congenital anomalies, rare diseases and precision medicine including basic science, cause, prevention, diagnostics, treatment and management
inform the planning and commissioning of public health and health and social-care provision
provide a resource to monitor, evaluate and audit health and social-care services, including the efficacy and outcomes of screening programmes
Congenital anomalies and rare diseases
Up to 1 in 20 babies are born with problems such as cleft palate, spina bifida or Down’s syndrome. These are sometimes called congenital malformations or congenital anomalies. Screening during pregnancy can detect some congenital anomalies, while some are found at birth. Others become obvious only as a baby grows older.
Rare diseases affect a small number of people compared to the general population and, because they are rare, can be difficult to diagnose, treat and/or prevent. A disease is considered to be rare when it affects 1 person in 2,000 or fewer.
Collectively rare diseases are not rare. 1 in 17 people will be affected by a rare disease at some point in their life. This amounts to about 3.5 million people in the UK.
The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) records those people with congenital abnormalities and rare diseases across the whole of England.
This service is integral to the UK Rare Disease Strategy.
NCARDRS structure
The national service collects data onto a single secure data management system for England. The service has regional offices:
Region
Address
Phone number
Email address
North East and Yorkshire
Regional Maternity Survey Office, 1 - 2 Claremont Terrace, Newcastle Upon Tyne, NE2 4AE
0191 233 1658
phe.nyhcar@nhs.net
South West
Public Health England, Third Floor, 2 Rivergate Temple Quay, Bristol, BS1 6EH
0345 504 8668 (Option 4) or Ext 89236
phe.swcar@nhs.net
Thames Valley
Public Health England, Second Floor, 4150 Chancellor Court, Oxford Business Park South, Oxford, OX4 2GX
01865 334 725
phe.tvcar@nhs.net
Wessex
Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA
02381 205 114
phe.wessexcar@nhs.net
West Midlands
Public Health England, First Floor, 5 St Philip’s Place, BIRMINGHAM B3 2PW
0121 232 9230
phe.wmcar@nhs.net
East Midlands and South Yorkshire
phe.emsycar@nhs.net
London and South East
Public Health England, Skipton House, Second floor, 80 London Road, London SE1 6LH
phe.lsecar@nhs.net
PHE has the remit to develop a registration service to cover England; although the potential value of a UK wide registry and the importance of integration with systems in Scotland, Wales and Northern Ireland is acknowledged.
Information governance and data protection
Patient data is collected under legal permissions granted to PHE under Section 251 of the NHS Act 2006. PHE has permission from Parliament to collect this data without the need to seek consent from individual patients.
PHE must seek renewal of this approval annually from the Secretary of State via the Confidentiality Advisory Group of Health Research Authority (HRA).
Details of our current approval are available on the HRA website.
To manage this data NCARDRS has strict policies approved by PHE and HRA that cover data collection, storage and release.
These policies define:
how data is collected
the requirements for the storage environment
the contractual arrangements for employing staff
the approvals required for any release
The service also conforms to the requirements of the Data Protection Act (1998).
For any queries or further information about information governance and data protection please email ncardrs@phe.gov.uk.
Data confidentiality and security
Only a limited number of staff have access to identifiable data – and can access this data only to ensure data quality or investigate specific incidents. This specialist group of staff train and work in secure sites within PHE.
The data collected is analysed, but whenever possible these analyses are performed on data where the identifiers (name and address) have been removed. If an analyst requires access to patient-identifiable information for example to check the accuracy of a record, they must justify the need to see this information and seek permission. A record is kept on the system to know who has looked at the data.
Personal data (data that might allow a child or family, to be identified) is only shared if consent has been given to do so, or the group or individual requesting the data has authority from the Confidentiality Advisory Group. Data is provided back to the treating clinicians (GP or care specialist) because they are directly involved with the care of the individual with a congenital anomaly or rare disease.
For any queries or further information about data confidentiality and security please email ncardrs@phe.gov.uk.
Patient access to their own data
Individuals can see the information kept about them. This can be requested through a general practitioner (GP) to make sure that the information provided is given to the individual requesting their data.
Opt out
NCARDRS hopes to register everyone who has a rare disease or congenital anomaly to help plan and improve healthcare services for future generations. However, individuals can ask to have all their details removed from the National Congenital Anomaly and Rare Disease Registration Service at any time.
These requests will not affect treatment or care.
To opt out, please email optout.ncardrs@phe.gov.uk or write to:
National Congenital Anomaly and Rare Disease Registration Service
Director
Public Health England
Skipton House
Second Floor
80 London Road
London
SE1 6LH
Data sharing
The service does not share patient-identifiable information unless:
the patient has given consent to this sharing
there are specific permissions given from a valid research ethics committee
there is legislation in place for the recipient to receive the data
Identifiable data is only released if all these conditions are met, and the data recipient must have appropriate methods for data storage and only hold the data for the period of their study.
The use of congenital anomaly and rare disease data is encouraged for research, audit and information.
Potential researchers must contact NCARDRS early on in a project to:
make sure the data is able to answer your question
make sure the research project is novel and nobody else has recently or is currently carrying out the same work
make sure the data requested is not already publicly available
For national data requests please email ncardrs@phe.gov.uk.
For regional data requests please contact your regional office.
EUROCAT
EUROCAT (European Surveillance of Congenital Anomalies) is a European network of population-based registries for the epidemiologic surveillance of congenital anomalies. See the EUROCAT website.
NCARDRS shares data with EUROCAT in order to pool data across a wider geographical area, make comparisons across Europe and share expertise. EUROCAT meet the strict information governance standards for data processing.
Data from NCARDRS are available, together with data from all other EUROCAT registries, on the EUROCAT website. View the prevalence rates for just the English registers (registration required).
Orphanet
Orphanet is an international rare disease and orphan drugs portal which aims to increase awareness of rare diseases and improve diagnosis, care and treatment of patients with rare diseases.
The UK has contributed to the Orphanet database for the past decade by registering rare disease activities across the UK and Ireland.
Previously at the University of Manchester, PHE runs Orphanet UK. See the Orphanet site www.orpha.net or contact the UK office on orphanet-UK@phe.gov.uk.
Engaging patients, charities and public
We want people to know about:
why data is collected
how it is processed
why it is needed
We regularly talk with patients and congenital anomaly and rare disease charities to explain what we do and why we need patient identifiable data, we seek their advice on how we might improve, and we ask for their support.
Leaflets are published for patients and parents explaining what congenital anomaly and rare disease registration is, why it is important and how a patient can opt out, should they wish to do so. Patient focus groups were consulted during the development of this literature.
The National Congenital Anomaly and Rare Disease Registration Service: what it is, the benefits and your options (leaflet)
PDF, 368KB, 2 pages
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