The amount of genetic test support to prevent rare disease diagnosis and wandering is doubled compared to the previous year ↑
Mar 18, 2025
|
In order to help undiagnosed rare disease patients receive timely treatment through early diagnosis, the Korea Centers for Disease Control and Prevention will implement the 2025 'Visiting Rare Disease Diagnosis Project' from the 19th.
More than 80% of rare diseases are genetic diseases, and early diagnosis is important, but due to the diversity and scarcity of diseases, many patients experience 'diagnosis wanderers'.
Diagnostic wandering is when a suspected rare disease travels to several hospitals for a long time to be diagnosed, and the diagnostic wandering period is the period from the date of symptom onset to the date of diagnosis of a rare disease. Korea has an average of 7.4 years (the results of the 2024 diagnostic support project), the US 7.6 years, and Europe 5 to 30 years.
Since 2023, the Korea Centers for Disease Control and Prevention has contributed to preemptive prevention management through screening potential patients and patients by supporting genetic testing not only for patients but also their families (parents and three brothers).
|
In particular, 101 out of 129 positive people (78.2%) will be eligible for a reduction in out-of-pocket expenses, and will even receive medical expenses for rare patients based on income (less than 140% of median income, as of 2025) and property standards.
|
In addition, if a rare genetic disease is identified, additional family tests (a total of three parents and brothers) will be provided to manage high-risk groups such as those shown, and screening and confirmation tests will be provided for patients suspected of spinal muscular atrophy (SMA), which has a relatively high demand for treatment costs and requires early diagnosis. If the diagnosis is confirmed as a rare disease, it will be linked to state-funded policies such as the National Health Insurance Corporation calculation special system and the Korea Centers for Disease Control and Prevention's medical expenses support project for rare patients, reducing the burden of medical expenses for patients and their families, and linking timely treatment through early diagnosis.
Meanwhile, related information such as how to support the rare disease diagnosis support project to be visited in 2025 and participating medical institutions can be found through the 「KCDC Rare Disease Helpline」.
This article was translated by Naver AI translator.
