- The number of eligible patients has doubled year-over-year, expanding coverage across more diseases and regions and improving access to diagnosis for suspected patients and their families.

- A 2024 analysis of the program reported a 98% satisfaction rate among suspected patients and families, with benefits such as early diagnosis and the end of a diagnostic odyssey.

Osong, 8 April 2025 – The Korea Disease Control and Prevention Agency (KDCA) officially launched the 2025 Rare Disease Diagnostic Support Program on March 19 to strengthen support for patients with rare diseases and their families, who often struggle to obtain timely diagnosis and treatment.

The Rare Disease Diagnostic Support Program provides Whole-Genome Sequencing (WGS) analysis and interpretation to undiagnosed patients with suspected rare diseases to ensure early diagnosis and timely medical intervention.

With over 80% of rare diseases being genetic, early diagnosis is crucial. However, due to the diversity and rarity of these conditions, many patients endure a prolonged “diagnostic odyssey*,” often requiring years of visits to multiple hospitals before receiving a definitive diagnosis.
* Diagnostic odyssey: The average time to diagnosis is estimated to be about 7.4 years in Korea, 7.6 years in the United States, and between 5 to 30 years in Europe.

Since 2023, the program has provided WGS testing to suspected patients and their family members (parents and siblings, up to three persons) to screen for potential carriers and proactively prevent disease occurrence. Accessibility has also improved by allowing sample collection at designated regional medical institutions, reducing the need for long-distance travel. Testing agencies then collect and process the samples for diagnosis.

Program Achievements in 2024

In 2024, Whole-Genome Sequencing (WGS) testing was provided to 410 patients suspected of having a rare disease. Of these, 129 received a confirmed diagnosis, with a positive rate of 31.5%. Notably, 80.6% of diagnosed cases were children and adolescents, underscoring the program’s critical role in enabling early diagnosis and timely treatment for this age group.
* The average turnaround time from specimen collection to test results was four weeks (28 days).

19.6% (21 individuals) of those tested received a diagnosis within a year of symptom onset, and 25.2% (27 individuals) who had been searching for a diagnosis for over a decade were finally diagnosed. By expediting diagnoses, the program has helped patients obtain an early diagnosis and shortened the diagnostic odyssey, particularly for those who have spent years seeking answers.

Of the 129 confirmed cases, 101 patients (78.2%) qualified for reduced co-payments under the special health insurance co-payment calculation system. Among them, additional financial support will be provided to those who met the income (below 140% of the median income as of 2025) and property criteria.

Expanded Rare Disease Diagnostic Support Program in 2025

To meet growing demand and address the increasing prevalence of rare diseases, KDCA will significantly expand the program in 2025. The number of eligible diseases will increase from 1,248 to 1,314, with 66 new diseases added to the program. Additionally, the number of eligible patients will double from 410 to 800.

The program will also expand the number of designated medical institutions, particularly in the Seoul metropolitan area. The total number of participating institutions will increase from 23 to 34 (25 located outside the Seoul metropolitan area and 9 within it). This expansion will allow patients to undergo testing closer to home, improving accessibility and convenience.

For patients diagnosed with a rare genetic disease, the program will also offer additional genetic testing for family members—covering parents and siblings (up to three individuals) to proactively identify high-risk groups and detect potential carriers. Additionally, support will be strengthened for screening and confirmatory testing for suspected cases of spinal muscular atrophy (SMA), a condition with high medical costs that requires early diagnosis.

Patients diagnosed with a rare disease will also benefit from national support programs, including the special health insurance co-payment calculation system and the KDCA’s Rare Disease Medical Expanses Support Program. These programs will help alleviate financial burdens and ensure timely access to necessary treatments through early diagnosis.

From March 18, information on the 2025 Rare Disease Diagnostic Support Program, including application procedures and a list of participating medical institutions, are available on the KDCA’s Rare Disease Helpline (helpline.kdca.go.kr).