Introduction
Rare Disease Day falls on the last day of February, raising awareness and generating change for those living with a rare disease and their families. This year, the England Rare Diseases Action Plan 2022 was published. This lays out how NHS Digital, and other delivery partners, will deliver on the ambitions of the UK Rare Disease Framework, including:
- faster diagnosis
- awareness among health professionals
- coordination of care
- access to specialist care and treatments
What is a rare disease?
A rare disease is a disease or condition that occurs in less than 1 in every 2,000 people. There are over 6,000 known rare diseases with new conditions being described all the time.
Why do we need data on rare diseases?
Even though each rare disease is individually rare, they are collectively common and will affect around 1 in 17 people. Understanding of rare diseases is often poor. We often do not even know how many people have a condition or how or where they are being treated for it. This makes it difficult to plan services and to find new treatments.
What data does NHS Digital collect on rare diseases?
The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) brings together rare diseases and congenital anomaly data from multiple sources and makes it available as a high-quality resource to underpin improvements for those living with these conditions.
This data is used in many ways. It supports high quality service delivery by providing data and analysis to the Newborn Blood Spot Screening and the Fetal Anomaly Screening Programmes. NCARDRS also publishes annual congenital anomaly statistics.
NCARDRS data continues to support the COVID-19 response. Most recently, NDRS data is being used in the MRC funded MELODY study, which is investigating vulnerability to COVID-19 infection following vaccination in a large cohort of people with rare autoimmune diseases and blood cancers.
What is NHS Digital’s role in the England Rare Diseases Action Plan 2022?
NHS Digital is the only Action Plan delivery partner with the legal basis, expertise and infrastructure to collect, curate and analyse population based, rare disease data. NCARDRS will work with delivery partners to support the delivery of their actions.
NHS Digital leads on two actions. One is to publish high quality epidemiological and research papers to increase the understanding of rare diseases. The other is a joint action with NHSE/I to develop plans to share data and resources to put access to high cost drug data into context of the wider rare disease population.
What do rare disease patient organisations say about NCARDRS?
The information that NCARDRS collects about people affected by rare conditions can be used to support research, access to therapies, inform service design and even answer the straightforward question, 'how many people have this condition?'. We value the approach of the NCARDRS team. Collaboration with rare condition support organisations is fundamental to their work, and this will ensure that the right data is collected in the right way.
Last edited: 7 August 2024 3:31 pm
