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

Man Jin Kim; Boram Kim; Heerah Lee; Jee Soo Lee; Seung Won Chae; Ho Seob Shin; Sung Im Cho; Soo Yeon Kim; Jangsup Moon; Byung Chan Lim; Jung Min Ko; Jong Hee Chae; Sung Sup Park; Moon Woo Seong

doi:10.1038/s41431-023-01415-8

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

Man Jin Kim, Boram Kim, Heerah Lee, Jee Soo Lee, Seung Won Chae, Ho Seob Shin, Sung Im Cho, Soo Yeon Kim, Jangsup Moon, Byung Chan Lim, Jung Min Ko, Jong Hee Chae, Sung Sup Park, Moon Woo Seong

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Abstract

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.

Original language	English
Pages (from-to)	1147-1153
Number of pages	7
Journal	European Journal of Human Genetics
Volume	31
Issue number	10
DOIs	https://doi.org/10.1038/s41431-023-01415-8
State	Published - Oct 2023

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Publisher Copyright:
© 2023, The Author(s), under exclusive licence to European Society of Human Genetics.

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Kim, M. J., Kim, B., Lee, H., Lee, J. S., Chae, S. W., Shin, H. S., Cho, S. I., Kim, S. Y., Moon, J., Lim, B. C., Ko, J. M., Chae, J. H., Park, S. S., & Seong, M. W. (2023). The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project. European Journal of Human Genetics, 31(10), 1147-1153. https://doi.org/10.1038/s41431-023-01415-8

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

abstract = "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.",

author = "Kim, {Man Jin} and Boram Kim and Heerah Lee and Lee, {Jee Soo} and Chae, {Seung Won} and Shin, {Ho Seob} and Cho, {Sung Im} and Kim, {Soo Yeon} and Jangsup Moon and Lim, {Byung Chan} and Ko, {Jung Min} and Chae, {Jong Hee} and Park, {Sung Sup} and Seong, {Moon Woo}",

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doi = "10.1038/s41431-023-01415-8",

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AU - Chae, Seung Won

AU - Shin, Ho Seob

AU - Cho, Sung Im

AU - Kim, Soo Yeon

AU - Moon, Jangsup

AU - Lim, Byung Chan

AU - Ko, Jung Min

AU - Chae, Jong Hee

AU - Park, Sung Sup

AU - Seong, Moon Woo

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AB - 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.

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

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