Epidemiology and Surveillance
Split ViewerPublic Health Weekly Report 2021; 14(23): 1648-1653
Published online June 3, 2021
© The Korea Disease Control and Prevention Agency
National Supporting Program for Genetic Diagnosis of Rare Diseases in Korea
Hwang Joo-Yeon, Park So Yeon, Oh Kyungwon
Division of Rare Disease Management, Bureau of Chronic Disease Prevention and Control, KDCA
In Korea, according to the Rare Disease Act of 2016, a rare disease is defined as a condition that affects fewer than 20,000 persons. Patients with a rare disease receive a misdiagnosis more than once due to low prevalence and low awareness. Patients and their families endure an unpredictable journey, also referred to as a year-long diagnostic odyssey. These rare medical conditions cause excessive medical costs and long-term social burdens.
The purpose of this report was to summarize the findings from a rare disease genetic testing diagnostic program. Using genetic diagnosis workflow, this study achieved a diagnostic rate of 39.7% in 2020 and established the need for sustainable development. Also, this study anticipates that medically actionable genetic findings may increase the diagnostic yield in undiagnosed or misdiagnosed patients.
Key words Rare disease, Ultra rare disease, Gene, Genetic diagnosis
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Figure 1. Ultra rare disease according to the number of new patients in 2019
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Figure 2. Distribution of agencies requesting diagnosis support by region in Korea
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Figure 3. Multi-frequency genetic diagnosis diseases in 2020
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Figure 4. Comparison of positive rates for diagnosis of ultra rare diseases (2019-2020)
- 희귀질환관리법. 법률 제17472호, 2020. 8. 11., 타법개정. 제2조..
- Asrul Akmal Shafie, Nathorn Chaiyakunapruk, Azuwana Supian, Jeremy Lim, Matt Zafra, Mohamed Azmi Ahmad Hassali. State of rare disease management in Southeast Asia. Orphanet J Rare Dis 2016;11:107.
- Kathleen Bogart, Veronica Irvin. Health-related quality of life among adults with diverse rare disorders. Orphanet Journal of Rare Diseases 2017;12:177.
- Soo Yeon Kim, Byung Chan Lim, Jin Sook Lee, Woo Joong Kim, Hyuna Kim, Jung Min Ko, Ki Joong Kim, Sun Ah Choi, Hunmin Kim, Hee Hwang, Ji Eun Choi, Anna Cho, Jangsup Moon, Moon Woo Seong, Sung Sup Park, Yun Jeong Lee, Young Ok Kim, Jon Soo Kim, Won Seop Kim, Young Se Kwon, June Dong Park, Younjhin Ahn, Joo-Yeon Hwang, Hyun-Young Park, Youngha Lee, Murim Choi, Jong-Hee Chae. The Korean undiagnosed diseases program: lessons from a one-year pilot project. Orphanet J Rare Dis 2019;14:68.
- 극희귀 및 상세불명 희귀, 기타염색체 이상질환 산정특례 운영지침. 2020. 1.
- 2019 희귀질환자 통계 연보, 국가승인통계 승인번호 제 117106호. 2020. 12.
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Public Health Weekly Report 2021; 14(23): 1648-1653
Published online June 3, 2021
Copyright © The Korea Disease Control and Prevention Agency.
National Supporting Program for Genetic Diagnosis of Rare Diseases in Korea
Hwang Joo-Yeon, Park So Yeon, Oh Kyungwon
Division of Rare Disease Management, Bureau of Chronic Disease Prevention and Control, KDCA
Abstract
In Korea, according to the Rare Disease Act of 2016, a rare disease is defined as a condition that affects fewer than 20,000 persons. Patients with a rare disease receive a misdiagnosis more than once due to low prevalence and low awareness. Patients and their families endure an unpredictable journey, also referred to as a year-long diagnostic odyssey. These rare medical conditions cause excessive medical costs and long-term social burdens.
The purpose of this report was to summarize the findings from a rare disease genetic testing diagnostic program. Using genetic diagnosis workflow, this study achieved a diagnostic rate of 39.7% in 2020 and established the need for sustainable development. Also, this study anticipates that medically actionable genetic findings may increase the diagnostic yield in undiagnosed or misdiagnosed patients.
Keywords: Rare disease, Ultra rare disease, Gene, Genetic diagnosis
Body
-
Figure 1. Ultra rare disease according to the number of new patients in 2019
-
Figure 2. Distribution of agencies requesting diagnosis support by region in Korea
-
Figure 3. Multi-frequency genetic diagnosis diseases in 2020
-
Figure 4. Comparison of positive rates for diagnosis of ultra rare diseases (2019-2020)
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References
- 희귀질환관리법. 법률 제17472호, 2020. 8. 11., 타법개정. 제2조..
- Asrul Akmal Shafie, Nathorn Chaiyakunapruk, Azuwana Supian, Jeremy Lim, Matt Zafra, Mohamed Azmi Ahmad Hassali. State of rare disease management in Southeast Asia. Orphanet J Rare Dis 2016;11:107.
- Kathleen Bogart, Veronica Irvin. Health-related quality of life among adults with diverse rare disorders. Orphanet Journal of Rare Diseases 2017;12:177.
- Soo Yeon Kim, Byung Chan Lim, Jin Sook Lee, Woo Joong Kim, Hyuna Kim, Jung Min Ko, Ki Joong Kim, Sun Ah Choi, Hunmin Kim, Hee Hwang, Ji Eun Choi, Anna Cho, Jangsup Moon, Moon Woo Seong, Sung Sup Park, Yun Jeong Lee, Young Ok Kim, Jon Soo Kim, Won Seop Kim, Young Se Kwon, June Dong Park, Younjhin Ahn, Joo-Yeon Hwang, Hyun-Young Park, Youngha Lee, Murim Choi, Jong-Hee Chae. The Korean undiagnosed diseases program: lessons from a one-year pilot project. Orphanet J Rare Dis 2019;14:68.
- 극희귀 및 상세불명 희귀, 기타염색체 이상질환 산정특례 운영지침. 2020. 1.
- 2019 희귀질환자 통계 연보, 국가승인통계 승인번호 제 117106호. 2020. 12.
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