ORPHAcodes for rare diseases implemented in the Apotti system

ORPHAcodes are used to record detailed information on rare diseases in patient information systems. Orphanet has exact codes for more than 6,000 diseases, whereas the currently used ICD-10 classification of diseases has only approximately 350 such codes for rare diseases. This has severely limited the identification of persons with a rare disease in healthcare registers. An estimated 300,000 patients in Finland have a rare disease.

Implementation of ORPHAcodes in the patient information system brings HUS and Apotti to the forefront of development. “As far as we know, we are only the third hospital in the world, the second in the Nordic countries and the first one in Finland to implement these codes,” says Mikko Seppänen, Docent and Head Physician at HUS Rare Diseases Center.

Rare disease codes improve patient safety

The use of ORPHAcodes improves the patient’s treatment. “A patient who has been given a specific rare disease diagnosis can be contacted if the patient appears to need additional examinations or whenever new forms of treatment have been found for the disease,” says Seppänen.

The implementation of the codes in the Apotti system has been accomplished by adding ORPHAcodes as supplementary codes for patients’ diagnoses. Such exact coding of rare disease will then be available whenever a professional views or handles patient's diagnoses. Recording of structured ORPHAcodes into the system will among other things enable further development of solutions and alerts for critical care instructions and knowledge-based management in rare diseases difficult to recognize and acutely manage.

“Correctly timed and targeted care instructions help to improve the quality of the treatment and patient safety of patients with rare diseases. ORPHAcodes can also be made part of the entries concerning the patient’s visit or episode of care on the ward. This information can then be forwarded to the national Patient Data Repository, where it will be available to other parties treating the patient,” says Business Manager Jaana Sten from Apotti.

Aiming at national implementation

The implementation of the ORPHAcodes in Finland is one of the most important objectives of the National Programme for Rare Diseases. “HUS and Apotti are the first to start using the ORPHAcodes in Finland and also further suppliers of patient information systems are preparing to implement the codes in their systems,” says Senior Medical Officer Satu Wedenoja from THL.

The codes can be implemented into electronic patient information systems through THL, alongside the ICD-10 code. Wedenoja says that THL’s Care Register for Health Care (Hilmo) will also have a separate field for the ORPHAcode from June 2023 onward. These will enable collection of recorded ORPHAcodes and accompanying data at the national level.

If future, when the codes are in national use, it will be possible to monitor how equal are diagnostics, monitoring, and treatment of patients with rare diseases across the country, and whether any areas need special attention.

“Researchers in turn will be able to study even rare diseases at the population level and for example through biobanks and find and recruit patients while studying disease mechanisms and potential targets for treatment,” says Seppänen.

What is a rare disease?

• A disease is defined as rare when it affects no more than one in 2,000. Most rare diseases are much rarer than this.
• There are an estimated 300,000 patients with a rare disease in Finland.
• A total of 8,000–10,000 rare diseases have now been identified and new ones are constantly discovered.
• All European Reference Networks for Rare and Complex Diseases currently have representatives from Finland. These ERN networks participate in the continuous development of the ORPHAcodes.