The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project

被引：2

作者：

Kim, Man Jin ^{[1
]}

Kim, Boram ^{[2
]}

Lee, Heerah ^{[2
]}

Lee, Jee-Soo ^{[2
]}

Chae, Seung Won ^{[2
,3
]}

Shin, Ho Seob ^{[2
]}

Cho, Sung Im ^{[2
]}

Kim, Soo Yeon ^{[4
]}

Moon, Jangsup ^{[1
]}

Lim, Byung Chan ^{[4
]}

Ko, Jung Min ^{[4
]}

Chae, Jong-Hee ^{[1
,4
]}

Park, Sung Sup ^{[2
]}

Seong, Moon-Woo ^{[2
]}

机构：

[1] Seoul Natl Univ Hosp, Dept Genom Med, Seoul, South Korea

[2] Seoul Natl Univ, Seoul Natl Univ Hosp, Dept Lab Med, Coll Med, Seoul, South Korea

[3] Seoul Natl Univ, Canc Res Inst, Coll Med, Seoul, South Korea

[4] Seoul Natl Univ, Seoul Natl Univ Hosp, Dept Pediat, Coll Med, Seoul, South Korea

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷 / 10期

关键词：

GUIDELINES;

D O I：

10.1038/s41431-023-01415-8

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The Korean Genetic Diagnosis Program for Rare Disease (KGDP) enrolled 1890 patients with rare diseases between March 2017 and October 2022. Children and adolescents accounted for the majority of the patients, and systemic disease was the most common presenting symptom. The exome-based virtual disease-specific multigene panel was the most frequently used analytical method, with an overall diagnostic yield of 33.3%. A total of 629 positive cases were diagnosed, involving 297 genes. All 297 genes identified in these cases were confirmed to be known genes listed in the OMIM database. The nationwide KGDP network and its cooperation with the Korean Undiagnosed Diseases Program (KUDP) provide a more comprehensive genetic analysis of undiagnosed cases. The partnership between the KGDP and KUDP has the potential to improve the diagnosis and treatment options for patients. In conclusion, KGDP serves as the primary access point or gateway to KUDP.

引用

页码：1147 / 1153

页数：7

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