Korea expands rare disease diagnosis support, doubling patient assistance for 2025

This year, the government’s project to support the diagnosis of rare diseases will be expanded, doubling the number of patients receiving support. Hospitals in the Seoul metropolitan area have also been included as eligible institutions for diagnoses.

The Korea Disease Control and Prevention Agency (KCDA) said Tuesday it will implement the 2025 project from Wednesday to strengthen support for rare disease patients and their families who face difficulties in diagnosis and treatment. 

The Rare Disease Diagnosis Support Project provides support for genetic testing and interpretation to enable the early diagnosis and timely treatment of undiagnosed rare diseases.

More than 80 percent of rare diseases are genetic, and early diagnosis is crucial. However, due to the diversity and rarity of these diseases, many patients undergo "diagnostic wandering," struggling to find the correct diagnosis.

Diagnostic wandering refers to the prolonged process in which individuals with rare diseases visit multiple hospitals over an extended period to receive a proper diagnosis. On average, the time from the onset of symptoms to the diagnosis of a rare disease is 7.4 years in Korea, 7.6 years in the U.S., and ranges from 5 to 30 years in Europe.

Since 2023, the KDCA has been supporting genetic testing not only for patients but also for their families, to proactively prevent and manage potential patients and carriers through early detection.

Additionally, by collecting patient samples at designated medical institutions in the region, the agency has been working to ensure that patients can receive diagnoses without the need for long-distance travel. This is achieved through a process where specialized testing institutions collect and analyze the samples.

As part of its rare disease diagnostic support project in 2024, the KDCA provided diagnostic tests for 410 patients suspected of having rare diseases. Among the 410 patients tested, 129 were confirmed as positive.

Among the confirmed positive patients, 80.6 percent were children and adolescents, with the success of early diagnosis and timely treatment linkage being particularly notable in this age group.

Additionally, 19.6 percent of patients received a rare disease diagnosis within one year from the onset of symptoms, while 25.2 percent were diagnosed after more than 10 years. This highlights the importance of early diagnosis for suspected patients and the role of the project in addressing long-term undiagnosed cases that have persisted for over a decade.

Among the 129 confirmed positive patients, 101 are eligible for the special reimbursement program, which reduces their out-of-pocket expenses. Based on their income and asset levels, they will also receive medical expense support for rare diseases.

Building on these results, the KDCA plans to expand the number of diseases eligible for diagnostic support in 2025 from the current 1,248 to 1,314. In response to the growing demand for diagnostic services and the increasing prevalence of rare diseases, the agency will double the scale of diagnostic support from the previous year, aiming to assist approximately 800 individuals.

The number of diagnostic test request regions and institutions will also be expanded. In addition to the 23 non-metropolitan medical institutions, the KDCA will add institutions in certain areas of the metropolitan region, bringing the total to 34 medical institutions. This expansion will improve accessibility to diagnoses based on residents' locations.

Furthermore, if a hereditary rare disease is confirmed, family testing will be supported to proactively manage high-risk groups, such as carriers. Additionally, for patients suspected of having spinal muscular atrophy, who require early diagnosis and treatment, both screening and confirmatory tests will be provided.

If a rare disease is confirmed through diagnostic testing, patients will benefit from national support programs, such as the National Health Insurance Corporation's special reimbursement system and the KDCA's medical expense support program for rare disease patients. This will alleviate the financial burden on patients and their families, enabling timely treatment through early diagnosis.