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The Adult Rare Disease Register (ARD)

Who we are 

The Adult Rare Disease Register (ARD) for Wales is managed within the CARIS team based within the Research, Data and Digital Directorate of Public Health Wales NHS trust.  

What is a Rare Disease?  

A rare disease typically affects less than 1 in 2,000 people. This definition for a rare disease has been adopted across Europe and is endorsed by Orphanet, a rare diseases service and website, funded by the European Union.

Many rare diseases are genetic in origin however some are acquired during life. They are often difficult to diagnose, simply because they are rare. Many rare diseases cause symptoms that impact on the quality of life, and some reduce life expectancy.  

Some examples of rare diseases are: 

  • Cystic fibrosis 
  • Duchenne’s muscular dystrophy 
  • Alpha 1 antitrypsin deficiency 

Why have an adult rare disease register? 

The main purpose of the rare disease register is to collate high quality data on rare diseases in one place. The data may then be used by the government, healthcare staff, charity organisations and the public to help improve the services available for patients with rare diseases. 

The scope of the register continues to expand to help meet the needs of both the rare disease community and the health service in Wales. 

The register fulfills a recognized need as set out in The UK Rare Diseases Framework on the GOV.UK website.

The work of the register is steered by the Wales Rare Disease Implementation Network (RDIN).

What we provide 

The register aims to provide systematic, comprehensive, collection, registration, and publication of population level data on rare diseases occurring in the adult population in Wales. 

Rare Disease Surveillance 

These data will be used for surveillance purposes, namely to: 

  1. Assess and monitor the incidence of rare diseases. 
  1. Provide evidence to support the planning of Services for adults with rare diseases. 
  1. Provide epidemiological data to better understand the wider determinants of health, such as deprivation, that can affect well-being and life expectancy. 
  1. Provide epidemiological data to better understand the course of disease, such as mortality/life expectancy. 
  1. Provide epidemiological data to monitor service quality/improvement, such as time taken to diagnose a rare disease. 

Wider determinants of health within a population 

Our long-term strategy sets out our vision for achieving a healthier future by 2035, which we will do by focusing on six strategic priorities. Influencing the wider determinants of health is one of the priorities. Some of the key factors that influence health and well-being in Wales include: 

  • Education 
  • Fair work 
  • Money and resources 
  • Housing 
  • Transport 
  • Built and natural environment 

The Well-being of Future Generations Act (2015) provides a common framework for addressing the wider determinants of health. 

More details can be found at the link supplied above or by visiting Public Health Wales’ strategy page. 

Information for Patients 

What information do we collect? 

The register collects information on all adults with a rare disease, who are 18+ years old and living in Wales. 

This information includes: 

  • Details about the person, including name, ethnicity, current address, date of birth, date of death if relevant and medical history. 
  • Description of the rare disease and when first diagnosed. 
  • Details and results of investigations carried out to diagnose the disease e.g. ultrasound scans, Magnetic Resonance Imaging (MRI) scans and genetic results. 

How is the information collected? 

Currently our data are primarily obtained from existing health service sources. We continuously work to establish more sources of information and data. Patients can self-refer to the register via e-mail (see below for details). Our long-term future goal includes developing a digital system that will enable people with a rare disease to self-register.

Who sees the information? 

There are strict rules controlling who can see personal information (including names and addresses). Only hospital staff treating you and people who work for the register in Public Health Wales NHS Trust will be able to see this information. Shared and published data are anonymised so that individuals cannot be identified by their condition and exact location. Patients are not contacted by register staff. 

Will the database be secure and confidential? 

We recognise that your information is confidential. We use and keep it in a responsible way that respects your rights and privacy and is in accordance with the law. Your data will be stored in a secure environment, only accessible to the register team.  

The Legal framework we operate within. 

The Adult Rare Disease register is part of Public Health Wales NHS Trust. Its operation falls within the statutory establishment functions of Public Health Wales (NHS WALES) 

We are compliant with the Data Protection Act 2018

We operate in accordance with the General Data Protection Regulations (GDPR) as defined within the Data Protection Act 2018. 

The Confidential Advisory Group (CAG) grant approval under the Health and Social Care Act 2006, allowing collection of data for defined purposes, without the need to obtain informed consent). 

We are seeking CAG approval for the register. 

Can I view my record on the register? 

Yes, it is your right to know and see what data we hold if you want to. If the data we hold is not accurate, please tell us, so that we can correct it.  

Do I have to have my information stored on the register? Can I opt-out? 

We hope everyone will want to be included to help us plan and improve services for rare diseases in Wales. If you wish, we will remove your details. Please contact us at any time via our confidential email portal PHW.ARD@wales.nhs.uk 

Please complete our opt out form making sure to supply your full name, address, date of birth and NHS number to inform us that you’d like to remove your record from the Adult Rare Disease Registry. 

Can I refer myself to be added to the registry? Can I opt-in? 

Yes, you can self-refer by completing our self-referral form.   

This will take 10 – 15 minutes to complete and will require you to supply some information about yourself, background information on your condition, address information, NHS number and permission to access your NHS record.  If you have any difficulty accessing or using this form, please contact us at PHW.ARD@wales.nhs.uk 

We will then act to remove the information we hold on you from the register. 

ARD Personnel  Office Staff 
Dr Llion Davies Public Health Consultant 
David Tucker  Manager

Ceri Williams

Senior Registration/Analyst 
Michael Olson  Information Officer 

If you have any questions after visiting this website or need further information, please contact the ARD Team via email at PHW.ARD@wales.nhs.uk 

We are always looking to improve to ensure that we are user-friendly.  If you have any comments or feedback on this web page or any of our publications, please get in touch with us by emailing.