In Germany, there are no exact figures on the number of people suffering from Rare Disease. Estimates are around four million people. The exact figure remains unknown, because the healthcare system does not have a precise coding for many of these diseases. A problem with far-reaching consequences: without precise data, healthcare policy is missing an important decision-making basis. The BfArM wants to change this – partly to enable research and new therapies.
The problem lies in the system. More precisely in the medical coding system. This system maps diseases using a letter code known as the “international classification of diseases”, or ICD, and is in use globally. Using this code, the health insurers, for example, can determine how often certain diseases occur, which treatments are being prescribed and, above all: what these treatments cost. Coding a disease is therefore an important basis for decisions in healthcare policy.
No clear ICD code
But what happens if a disease cannot be assigned a unique ICD code? “This makes those affected literally invisible in this system,” explains Carina Thomas. The medic works in the “Coding system and register” department of the BfArM. The Federal Institute is involved in the care and further development of the ICD code as one of the WHO cooperation centres. The coding system has already been revised a few times since its launch by WHO in 1983. The eleventh version, the “ICD-11” is currently in its introductory phase.
These ongoing expansions and revisions are, among other things, to allow diseases to be coded more differentially than before. Because if codes cover numerous different diseases, it is impossible to specifically identify individual diseases. These differentiations are also crucial for people suffering from a Rare Disease. “Currently, around 6000 to 8000 of these diseases are known,” explains Thomas. “But the ICD only provides specific codes for around 500 of these. The remainder are assigned codes which are also allocated to other, more common diseases.”
This is a problem for those affected, because precise diagnostic information is highly relevant to health services research and the planning of clinical trials, and thus the development of new therapies. Information, too, which aims to facilitate everyday life for these patients, needs to be clearly assigned. Another example is in provision: the gaps in data make it hard to detect where Rare Diseases are often treated and, based on this, where special expertise is available for their treatment.
Making Rare Diseases visible in the coding system
6000 to 8000
Rare Diseases are known.
The international reference database Orphanet meanwhile contains more than 6000 Rare Diseases, each with their own ORPHAcode.
Only 500
Rare Diseases have a specific ICD code.
The other Rare Diseases have codes which are also allocated to other, more common diseases.
Orphanet registers Rare Diseases
Therefore, in order to make all Rare Diseases visible in the coding system, in Europe it is recommended that ORPHAcodes by Orphanet be used. Orphanet is an international reference database which provides information on Rare Diseases and their treatment with corresponding drugs (Orphan drugs). Orphanet meanwhile has more than 6000 Rare Diseases, each with their own ORPHAcode.
However, ORPHAcode needs to be used in addition to the obligatory ICD coding. This means that it is possible for a disease with a specific ICD code to have more than one ORPHAcode and vice versa. Because of these factors and the additional work of using two systems, the national project “Coding Rare Diseases” was launched. The aim was to link ICD-10 codes and Orpha identification numbers. To do this, both systems where prepared in a common file, known as “Alpha-ID-SE ”. When using this, selecting the name of the disease once provides both codes.
The national Orphanet team
The BfArM has been an Orphanet project partner since 2021 and Carina Thomas is part of the national Orphanet team. She works here on implementing the Alpha-ID-SE into the healthcare system. This includes the maintenance and preparation of the annually updated version of this file. In order to promote its use, the BfArM is also offering training, talks and webinars. Furthermore, employees collect data on available specialist provisions such as expert centres, medical laboratories with testing facilities, ongoing research projects, clinical trials, patient registers and patient organisations. They are entered into the Orphanet database and can then be called up via the central website.
“At a national level, we are in close discussion with interest groups and participate in numerous EU projects,” says Thomas. “We work together to improve the visibility of Rare Diseases in the healthcare system.”
We work together to improve the visibility of Rare Diseases in the healthcare system.
Carina Thomas, Acting line manager of the K4 specialist field
Full data can save lives
The clear coding of Rare Diseases using Alpha-ID-SE has been mandatory in hospitals since 2023. This data then flows into the research data centre so that it is available for research queries. In future, the coding could also be expedient in the outpatient area. The ORPHAcodes could also be used in the electronic patient file, e.g. to give the user specific tips on therapies for the Rare Diseases patterns.
“Full data and algorithms can save lives and contribute towards a better quality of life,” stresses Carina Thomas. “This requires further incentives in drug research and the digitalisation of medical facilities. The common aim is to create the accompanying digital healthcare structures – and our work on the coding system is an important building block for this.”
Carina Thomas
Studied human medicine at the University of Mainz & University of Cologne 2002 – 2009. Medical work in the general and vascular surgery clinic in Leverkusen and the Marien hospital in Bergisch Gladbach 2010 – 2021. Started working as a scientific officer in the specialist field of K4/Orphanet Germany 12/2021. Deputy line manager of the K4 specialist field in 06/2022. Acting line manager of the K4 specialist field in 06/23.
