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Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China
Background: In China, there are severe unmet medical needs of people living with rare diseases. Relatedly, there is a dearth of data to inform rare diseases policy. This is historically partially due to the lack of informatics infrastructure, including standards and terminology, data sharing mechani...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553959/ https://www.ncbi.nlm.nih.gov/pubmed/34721018 http://dx.doi.org/10.3389/fphar.2021.719415 |
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author | Liu, Peng Gong, Mengchun Li, Jie Baynam, Gareth Zhu, Weiguo Zhu, Yicheng Chen, Limeng Gu, Weihong Zhang, Shuyang |
author_facet | Liu, Peng Gong, Mengchun Li, Jie Baynam, Gareth Zhu, Weiguo Zhu, Yicheng Chen, Limeng Gu, Weihong Zhang, Shuyang |
author_sort | Liu, Peng |
collection | PubMed |
description | Background: In China, there are severe unmet medical needs of people living with rare diseases. Relatedly, there is a dearth of data to inform rare diseases policy. This is historically partially due to the lack of informatics infrastructure, including standards and terminology, data sharing mechanisms and network; and concerns over patient privacy protection. Objective: This study aims to introduce the progress of China's rare disease informatics platform and knowledgebase, and to discuss critical enablers of rare disease informatics innovation, including: data standardization; knowledgebase construction; national policy support; and multi-stakeholder participation. Methods: A systemic national strategy, delivered through multi-stakeholder engagement, has been implemented to create and accelerate the informatics infrastructure to support rare diseases management. This includes a disease registry system, together with more than 80 hospitals, to perform comprehensive research information collection, including clinical, genomic and bio-sample data. And a case reporting system, with a network of 324 hospitals, covering all mainland Chinese provinces, to further support reporting of rare diseases data. International standards were incorporated, and privacy issues were addressed through HIPAA compliant rules. Results: The National Rare Diseases Registry System of China (NRDRS) now covers 166 rare diseases and more than 63,000 registered patients. The National Rare Diseases Case Reporting System of China (NRDCRS) was primarily founded on the National Network of Rare Diseases (NNRD) of 324 hospitals and focused on real-time rare diseases case reporting; more than 400,000 cases have been reported. Based on the data available in the two systems, the National Center for Health Technology Assessment (HTA) of Orphan Medicinal Products (OMP) has been established and the expert consensus on HTA of OMP was produced. The largest knowledgebase for rare disease in Chinese has also been developed. Conclusion: A national strategy and the coordinating mechanism is the key to success in the improvement of Chinese rare disease clinical care and drug accessibility. Application of innovative informatics solutions can help accelerate the process, improve quality and increase efficiency. |
format | Online Article Text |
id | pubmed-8553959 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-85539592021-10-30 Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China Liu, Peng Gong, Mengchun Li, Jie Baynam, Gareth Zhu, Weiguo Zhu, Yicheng Chen, Limeng Gu, Weihong Zhang, Shuyang Front Pharmacol Pharmacology Background: In China, there are severe unmet medical needs of people living with rare diseases. Relatedly, there is a dearth of data to inform rare diseases policy. This is historically partially due to the lack of informatics infrastructure, including standards and terminology, data sharing mechanisms and network; and concerns over patient privacy protection. Objective: This study aims to introduce the progress of China's rare disease informatics platform and knowledgebase, and to discuss critical enablers of rare disease informatics innovation, including: data standardization; knowledgebase construction; national policy support; and multi-stakeholder participation. Methods: A systemic national strategy, delivered through multi-stakeholder engagement, has been implemented to create and accelerate the informatics infrastructure to support rare diseases management. This includes a disease registry system, together with more than 80 hospitals, to perform comprehensive research information collection, including clinical, genomic and bio-sample data. And a case reporting system, with a network of 324 hospitals, covering all mainland Chinese provinces, to further support reporting of rare diseases data. International standards were incorporated, and privacy issues were addressed through HIPAA compliant rules. Results: The National Rare Diseases Registry System of China (NRDRS) now covers 166 rare diseases and more than 63,000 registered patients. The National Rare Diseases Case Reporting System of China (NRDCRS) was primarily founded on the National Network of Rare Diseases (NNRD) of 324 hospitals and focused on real-time rare diseases case reporting; more than 400,000 cases have been reported. Based on the data available in the two systems, the National Center for Health Technology Assessment (HTA) of Orphan Medicinal Products (OMP) has been established and the expert consensus on HTA of OMP was produced. The largest knowledgebase for rare disease in Chinese has also been developed. Conclusion: A national strategy and the coordinating mechanism is the key to success in the improvement of Chinese rare disease clinical care and drug accessibility. Application of innovative informatics solutions can help accelerate the process, improve quality and increase efficiency. Frontiers Media S.A. 2021-10-15 /pmc/articles/PMC8553959/ /pubmed/34721018 http://dx.doi.org/10.3389/fphar.2021.719415 Text en Copyright © 2021 Liu, Gong, Li, Baynam, Zhu, Zhu, Chen, Gu and Zhang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pharmacology Liu, Peng Gong, Mengchun Li, Jie Baynam, Gareth Zhu, Weiguo Zhu, Yicheng Chen, Limeng Gu, Weihong Zhang, Shuyang Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China |
title | Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China |
title_full | Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China |
title_fullStr | Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China |
title_full_unstemmed | Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China |
title_short | Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China |
title_sort | innovation in informatics to improve clinical care and drug accessibility for rare diseases in china |
topic | Pharmacology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553959/ https://www.ncbi.nlm.nih.gov/pubmed/34721018 http://dx.doi.org/10.3389/fphar.2021.719415 |
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