Rare Disease Scotland: progress report

Annex 2: Summary Report From Rdiog Short Life Working Group On Data

What is a Rare Disease?

A rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population. There are between 6,000 and 8,000 known rare diseases and around five new rare diseases are described in medical literature each week.

It is estimated that within the Scottish population there are up to 300,000 or 1 in 17 people who may be affected by a rare disease over their lifetime.

Issues for People with a Rare Disease

Patients with rare diseases in Scotland have experienced delays in getting a diagnosis and treatment, with several getting a number of diagnoses on the way.

It’s Not Rare to Have a Rare Disease

The Scottish Government’s implementation plan, It’s Not Rare to Have a Rare Disease - The Implementation Plan for Rare Diseases in Scotland was launched in June 2014. This plan highlights the numbers that are affected by a rare disease in Scotland, the difficulties these patients face and the need for action moving forward.

The Rare Disease Implementation Oversight Group was then created to take the Plan forward. One strand of the Group’s work has focused on data, tasked to consider how information on rare disease can be captured in Scotland to enable monitoring and reporting.

Where is Rare Disease Date Held?

Rare disease information may be captured in a number of places, including;

Congenital Anomalies

Congenital anomalies comprise a wide range of abnormalities of body structure or function that are present at birth and are of prenatal origin. Congenital anomalies account for approx 80% of all rare diseases and affect approx 2-4% of pregnancies in Scotland. There is currently no national congenital anomaly register.

Recommendations from a recent scoping exercise looking at potential data sources to identify patients with a rare disease included a recommendation to establish a congenital anomalies register in Scotland.

This register would create a user view of appropriate data held within the NSS Corporate Data Warehouse, ensuring Scotland remains in line with the congenital anomalies work undertaken in England by Public Health England.

Current Data Sources within NSS ( PHI & NSD) Which May Capture Information on Rare Diseases;

Coding Used
Currently only a small fraction of rare diseases have codes in international nomenclatures, making it difficult to trace patients with rare diseases in health information systems on a national and international level. Having codes for each and every rare disease would help obtain a better knowledge of healthcare pathways and of their impact on specialised health care services and on budgets.

ICD10
International Classification of Diseases 10th edition published by the World Health Organisation and used by more than 100 countries across the world. Widely used in the UK, especially in secondary care. Whilst accurate, the value of ICD10 coding for rare diseases is extremely limited as there have been numerous changes and advancements for rare diseases since the inception of ICD10 in 1994. Additionally, ICD10 is not designed to collect at a discreet enough level for rare disease and is not good at separating out the thousands of rare diseases and disorders that exist.

Due to the limitations of the 10th edition, the ICD 11th revision is due by 2018 and may assist in rare disease coding if adopted, however, improved rare disease coding does not only rely on a more suitable coding system but also depends on sufficient clinical, clerical and coding resources that allows detailed, accurate and consistent coding.

Read Codes
Standard clinical terminology system used in General Practice throughout the UK and maintained by the UK Terminology Centre, a division within NHS Digital. It supports detailed clinical encoding of multiple patient incidences. The updating of Read codes will cease in April 2018.

Hard Coding
Suspected / Carrier recorded against the condition tested for.

ERA-EDTA PRD
(Coding for Primary Renal Disease)
The most recent ERA- EDTA coding system for Primary Renal Disease ( PRD) includes codes and terms for most kidney diseases and not only for those that may lead to end-stage kidney failure. This coding system has the advantage of including the latest knowledge on kidney disease as well as direct linkage to ICD10 and SNOMED CT concept identifiers.

CODAC
Cause of Death and Associated Conditions is a tiered approach to the classification of perinatal deaths and can provide details of the stillbirths and neonatal deaths where the main cause of death was attributed to a congenital anomaly ( CODAC level 1) showing CODAC level 2, which provides information about the system affected by the anomaly and CODAC level 3, which provides information about the specific anomaly.