Rare Condition Registration Statistics updated to 2022

The Secretary of State for Health and Social Care has given legal directions for NDRS to collect, analyse, publish and disseminate confidential patient information for medical purposes relating to individuals with suspected, confirmed, or high genetic risk of congenital anomalies and rare or inherited diseases.

The UK Rare Diseases Framework provides the strategic framework through which NDRS’ registration activities can support an improvement in rare disease patient care and outcomes. It outlines the need for a robust rare disease data acquisition and registration process. This framework is underpinned by the Rare Diseases Action Plan, which provides specific actions for NDRS to carry out to support the framework. These include:

• improving the ‘findability’ of those living with a rare disease
• helping to determine if there is equitable access to drugs for patients with rare diseases by acquiring high-cost medications data.
• helping to determine if there is equitable access to highly specialised services for patients with rare diseases.
• collecting genomic data.
• enabling patient self-registration.
• standardisation of the minimum core data set and inclusion criteria, coding and routine analysis.
• gathering feedback from the rare disease community about other priority areas.

These documents together give NDRS the strategic direction for registration and analysis activities. As a result, NDRS are developing a rare disease registration system analogous to those in cancer and congenital anomalies and defining a minimum data specification for the data being acquired through this process. Many of the conditions reported in this publication, now and in future, will be registered through this process.

Other conditions do not require the establishment of additional registration processes, because they can be ascertained from existing patient registries – specifically, those in scope of cancer registration and congenital anomaly registration activities.

There are many thousands of potential conditions that could be included in these statistics. Decisions about which conditions to include and at what point have been taken based on clinical input and other pragmatic considerations such as resource, and the feasibility of ascertaining a cohort from existing data sources available to NDRS. We will expand the list of conditions included over time.

Prioritisation of rare cancers is being undertaken based on definitions of rare cancers aligned with the US National Cancer Institute’s Surveillance, Epidemiology and End Results (SEER) Program, a revised version of those provided by the Surveillance of Rare Cancer in Europe (RARECARE). A group of NDRS data professionals and clinicians has determined a priority order for adding these conditions to this publication when resource allows. This prioritisation incorporates multiple considerations:

• whether treatment is predominantly delivered with curative intent.  For aggressive conditions with a poor prognosis in the absence of cure, prevalence is less useful clinically than incidence.
• the prognosis of patients for whom a curative treatment is not available – those with a favourable prognosis have been prioritised recognising their ongoing healthcare needs.
• where care is delivered by specialised services such that understanding the prevalence of these conditions can help to ensure specialised services are optimised to meet patient needs.
• some conditions have only recently been defined and so an appropriate follow up may not yet be determined.

The congenital anomalies presented currently include those collected that are also conditions that are screened for by FASP.  These conditions are subject to enhanced registration and are of the highest data quality. We expect the list of included conditions to be expanded in future releases. Further information on the birth prevalence of other congenital anomalies can be found in the NCARDRS Congenital Anomalies Statistics report.

Decisions about prioritisation for such conditions have been restricted to those where NDRS is known to already have data or where it can be anticipated that data can be acquired in the near future (see section Rare Conditions Data Acquisition above).

A group of NDRS data professionals and clinicians has determined a priority order for adding these conditions to this publication when resource allows. This priority order is based on the following criteria:

• is the condition managed in highly specialised services (and therefore quality and completeness may be expected to be higher)?
• we have confidence in the accuracy of the data - for example, through validation with external sources, charities, or patient groups.
• conditions which are part of horizon scanning activities for new treatments or screening programmes.