The Korean undiagnosed diseases program: lessons from a one-year pilot project
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(2019) 14:68
RESEARCH
Open Access
The Korean undiagnosed diseases program: lessons from a one-year pilot project Soo Yeon Kim1†, Byung Chan Lim1†, Jin Sook Lee2†, Woo Joong Kim1, Hyuna Kim1, Jung Min Ko3, Ki Joong Kim1, Sun Ah Choi4, Hunmin Kim4, Hee Hwang4, Ji Eun Choi5, Anna Cho6, Jangsup Moon7, Moon Woo Seong8, Sung Sup Park8, Yun Jeong Lee9, Young Ok Kim10, Jon Soo Kim11, Won Seop Kim11, Young Se Kwon12, June Dong Park13, Younjhin Ahn14, Joo-Yeon Hwang14, Hyun-Young Park15, Youngha Lee16, Murim Choi1,16 and Jong-Hee Chae1,17*
Abstract Background: 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. Results: 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. Conclusions: 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. Keywords: Rare disease, Undiagnosed disease program, Korea, Whole exome sequencing
* Correspondence: [email protected] † Soo Yeon Kim, Byung Chan Lim and Jin Sook Lee are equal first authors. 1 Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children’s Hospital, Seoul National Unive
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