Guidance

National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)

A service to support clinicians and patients, service delivery, commissioning and public health.

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 registration service:

  • provides a resource for clinicians to support high quality clinical practice
  • supports and empowers patients and their carers, by providing information relevant to their disease or disorder
  • provides epidemiology and monitoring of the frequency, nature, cause and outcomes of these disorders
  • supports all research into congenital anomalies, rare diseases and precision medicine including basic science, cause, prevention, diagnostics, treatment and management
  • informs the planning and commissioning of public health and health and social care provision
  • provides a resource to monitor, evaluate and audit health and social care services, including the efficacy and outcomes of screening programmes

Public Health England (PHE) has expanded congenital anomaly and rare disease registration to cover the whole population of England, to meet national requirements for high quality public health disease surveillance identified by the Chief Medical Officer. The creation of the NCARDRS is part of the UK Rare Disease Strategy and the Department of Health 2020 Vision on Rare Diseases.

Congenital anomalies

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.

NCARDRS publishes annual statistics on congenital anomalies.

Rare diseases

Rare diseases affect a small number of people compared to the general population and, because they are rare, can be difficult to diagnose, treat 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 is about 3.5 million people in the UK.

For further information on the progress of registering rare diseases in the UK, contact the specialist rare disease team on PHE.NcardrsRD@nhs.net.

NCARDRS regional teams

The national service incorporates 7 historical regional congenital anomaly registers, the National Down Syndrome Cytogenetic Register (NDSCR) and the British Isles Network of Congenital Anomaly Registers (BINOCAR) hub. New regional teams have been established in parts of the country where there had previously been no data collection.

The national service collects data onto a single secure data management system for England.

The service has 9 regional offices. You can use the NCARDRS map tool to find out which office you should contact.

If you know which region you need the contact details for the offices are:

London and South East

NCARDRS London and South East office

This office is based in London

Midlands and East

NCARDRS East Midlands and South Yorkshire office

This office is based in Sheffield

NCARDRS East of England office

This office is based in Cambridge

NCARDRS West Midlands office

This office is based in Birmingham

North

NCARDRS North West office

This office is based in Manchester

NCARDRS Northern office

This office is based in Newcastle-Upon-Tyne

South West

NCARDRS South West office

This office is based in Bristol

NCARDRS Thames Valley office

This office is based in Bristol

NCARDRS Wessex office

This office is based in Bristol

Electronic notification forms are available for:

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 phe.ncardrs@nhs.net.

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 phe.ncardrs@nhs.net.

Researchers can only use information that might identify you if they have your consent or legal and ethical permission to do so.

Part of this research may involve sending identifiable information to NHS Digital and the Office for National Statistics (ONS). Researchers can request data linked to your identifiable information held by the NHS Digital and ONS, such as hospital admissions and civil death registrations.

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. See:

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. PHE runs Orphanet UK.

See the Orphanet site www.orpha.net or contact the UK office: orphanet-UK@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 phe.ncardrs@nhs.net.

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.

Work is underway to look at establishing a patient portal so patients can self register. We will provide updates as this work progresses.

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

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 for patients and parents explain 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.

See National Congenital Anomaly and Rare Disease Registration Service: patient leaflet

Published 27 March 2015
Last updated 26 January 2017 + show all updates
  1. Included details of a new map tool to help users find the correct regional office.
  2. Updated regional offices contact details.
  3. Updated data sharing section.
  4. Updated contact details for existing offices. Added contacts for East of England and North West offices.
  5. Updated November 2015.
  6. First published.