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Orphanet J Rare Dis. 2019 Mar 20;14(1):68. doi: 10.1186/s13023-019-1041-5.

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

Author information

1
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
2
Department of Pediatrics, Department of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea.
3
Department of pediatrics, Division of Clinical Genetics, Seoul National University College of Medicine, Seoul, Korea.
4
Department of Pediatrics, Seoul National University Bundang Hospital, Gyeonggi-do, Korea.
5
Department of Pediatrics, SMG-SNU Boramae Hospital, Seoul, Korea.
6
Department of Neurology, Department of Neurosurgery, Seoul National University Hospital, Seoul, Korea.
7
Department Neurosurgery, Seoul National University Hospital, Seoul, Korea.
8
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
9
Department of Pediatric, School of Medicine, Kyungpook National University, and Kyungpook National University Hospital, Daegu, Korea.
10
Departmentof Pediatrics, Chonnam National University Medical School, Gwangju, Korea.
11
Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea.
12
Department of Pediatrics, School of Medicine, Inha University, Incheon, Korea.
13
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
14
Division of Rare Diseases, center for Biomedical Science, Korea National Institute of Health, KCDC, Chungcheongbuk-do, Korea.
15
Center for Genome Science, Korea National Institute of Health, KCDC, Shungcheongbuk-do, Korea.
16
Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
17
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea. chaeped1@snu.ac.kr.
18
Division of Pediatric Neurology, Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro Jongno-gu, Seoul, 110-744, Korea. chaeped1@snu.ac.kr.

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:

Korea; Rare disease; Undiagnosed disease program; Whole exome sequencing

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