The Korean undiagnosed diseases program: lessons from a one-year pilot project

Cited 2 time in Web of Science Cited 2 time in Scopus
Kim, Soo Yeon; Lim, Byung Chan; Lee, Jin Sook; Kim, Woo Joong; Kim, Hyuna; Ko, Jung Min; Kim, Ki Joong; Choi, Sun Ah; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Cho, Anna; Moon, Jangsup; Seong, Moon Woo; Park, Sung Sup; Lee, Yun Jeong; Kim, Young Ok; Kim, Jon Soo; Kim, Won Seop; Kwon, Young Se; Park, June Dong; Ahn, Younjhin; Hwang, Joo-Yeon; Park, Hyun-Young; Lee, Youngha; Choi, Murim; Chae, Jong-Hee
Issue Date
BioMed Central
Orphanet Journal of Rare Diseases. 2019 Mar 20;14(1):68
Rare diseaseUndiagnosed disease programKoreaWhole exome sequencing
The Korean Undiagnosed Diseases Program (KUDP) was launched in January 2017 as a one-year pilot project to address the increasing global interest in patients with undiagnosed rare diseases. The purpose of this paper is to summarize the project results and emphasize the unmet research needs among patients with undiagnosed rare diseases in Korea.

Patient enrollment, assessment, and diagnostic processes were determined by the KUDP clinical expert consortium. Patients followed a diagnostic workflow after being categorized into one of four groups: I) insufficient clinical information or lack of standard diagnostic processes; II) undiagnosed due to low disease awareness; III) clinically diagnosed but unconfirmed genetically due to genetic heterogeneities; or IV) unknown disease due to complex, atypical clinical presentations. After excluding two patients from group I, 97 patients were enrolled, including 10 in group II, 67 in group III, and 20 in group IV. Most of them (92 of 97, 94.8%) were pediatric patients (< 18 years old) and 59 (60.8%) were male. The primary symptoms for 80 patients (82.5%) were neurologic. During the one-year pilot study, 72 patients completed a diagnostic assessment including clinical and molecular genetic analyses; some patients also underwent pathological or biochemical analysis. Twenty-eight of these patients (28/72, 38.9%) achieved molecular genetic diagnosis. Thirteen patients were diagnosed based on traditional tests, including biochemical assay, single or targeted genetic analysis, and chromosomal microarray. We performed whole exome sequencing on 52 patients, among whom 15 (28.8%, 15/52) reached a final diagnosis. One new disorder was identified via international collaboration.

Using an efficient clinical diagnostic workflow, this KUDP pilot study resulted in a fair diagnostic success rate, improving the potential for additional diagnoses and new scientific discovery of complex and rare diseases. KUDP also satisfied unmet needs for rare diseases with multisystem involvement, highlighting the value of emerging genomic technologies for further research into rare and still-undiagnosed conditions.
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Neurology (신경과학교실)Journal Papers (저널논문_신경과학교실)
College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Biomedical Sciences (대학원 의과학과)Journal Papers (저널논문_의과학과)
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