The Korean Undiagnosed Diseases Program

Park So-Yeon, Ahn Younjhin
Division of Rare Diseases, Center for Biomedical Sciences, KNIH, KCDC

In Korea, based on “Rare Disease Management Act”, rare diseases are defined as those affecting fewer than 20,000 patients or those with unknown prevalence due to the difficulty of diagnosis. In general, the lack of information, diagnosis, treatment, and research makes it difficult for patients with rare diseases to adequately receive healthcare services. Specifically patients with undiagnosed diseases suffer from the lack of experts for diagnosis and treatment, for example, in addition to the disease burden itself. Therefore, the undiagnosed program is important for patients to reduce the socioeconomic burden in the diagnostics odyssey. Recently, international collaborations such as the Undiagnosed Diseases Network International or International Rare Diseases Research Consortium have globally been emphasized to overcome the limit in the lack of information. Through the pilot project performed in 2017, the Korean Undiagnosed Diseases Program was launched in 2018.
There are four categories in the UDP: categories I (undetermined due to the lack of medical and laboratory information), II (clinically undiagnosed with low awareness), III (genetically undiagnosed due to extreme genetic heterogeneity or clinical diversity), and IV (unknown knowledge). Through expert group review, enrollment and evaluation are performed. The patients included category IV are registered in the unspecified diseases group, and various data are collected for rare diseases research. The UDP is crucial for diagnosis, treatment, and research of rare diseases. However, the lack of experts, limitation in budget, and expansion of networks across various fields (biology, bioinformatics, animal model development, and omics among others) remain unresolved.

Keywords: Rare diseases, Undiagnosed disease program, Genetic heterogeneity