For patients referred to the rare disease diagnosis support project, the average time elapsed from experiencing their first symptoms to being referred for testing reached 9.2 years in 2025. In the same year, half of the patients who completed testing remained undiagnosed, and one in four confirmed patients suffered from a condition not listed on the national designated rare disease roster.

According to data submitted by the Korea Disease Control and Prevention Agency (KDCA) on the 8th to Rep. Seo Young-seok (Democratic Party of Korea, Bucheon-si Gap, Gyeonggi Province), Secretary of the National Assembly Health and Welfare Committee, the time elapsed from symptom onset to test referral was 8.5 years in 2023, 7.4 years in 2024, and 9.2 years in 2025. It was found that the total time required from symptom onset to final diagnosis for all rare disease patients is not managed as official national statistics.

Among the 810 patients who completed testing through the diagnosis support project in 2025, 285 patients (35.2%) were confirmed. Those with undetermined results accounted for 413 patients (51.0%), while 112 patients tested negative. Among the confirmed cases, 74 patients (26.0%) had diseases not included in the designated list for that year. Similarly, in 2024, 28 out of 129 confirmed patients (21.7%) had diseases outside the list.

Rare disease diagnosis data provided by Rep. Seo Young-seok's office. Designation reviews for rare diseases are held once a year, taking an average of 1 year and up to 1 year and 10 months from application to designation announcement. Between 2021 and 2025, 305 new diseases were designated, but 581 diseases were not designated. Among the undesignated diseases, 24 were rejected solely on the grounds that their prevalent population exceeded 20,000.

Regional disparities also existed in diagnostic infrastructure. According to data from the National Health Insurance Service, out of 44 diagnostic medical institutions capable of registering for special calculation exceptions for ultra-rare diseases and other chromosomal abnormality diseases, 14 were located in Seoul, whereas none existed in Gyeongbuk, Sejong, or Jeju. Furthermore, none of the 19 specialized institutions designated by the KDCA were located in Gyeongbuk and Chungnam. Gyeongbuk, which has 603 registered ultra-rare disease patients, was the only city/province lacking both types of institutions.

Rep. Seo pointed out that the official statistics must manage the total duration required for rare disease confirmation, and a system must be established to connect undetermined and off-list confirmed patients to re-analysis, designation applications, and medical expense support. He emphasized the need to increase designation reviews to twice a year or more and expand specialized institutions and diagnostic medical institutions starting from regions lacking diagnostic infrastructure.

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