Abstract
Rare diseases (RD) pose significant challenges for healthcare systems globally, necessitating the establishment of disease registries to facilitate research, diagnosis, and treatment. This article explores the development of a comprehensive national RD registry for India, informed by insights gained through interactions with experts from India and the Asia-Pacific Economic Cooperation (APEC) region. The social and technological challenges involved in creating and maintaining a national RDs registry are highlighted. Moreover, the roles and responsibilities of different stakeholders are discussed. Additionally, the RD-RAP (Registry and Analytics Platform) framework is also discussed, which is an analytics-based RD registry model with multi-stakeholder end-user utility. Although developed for the APEC region, the RD-RAP framework holds promise in the Indian context. This article discusses the key features of the RD-RAP framework that are relevant and applicable to the Indian setting. By leveraging these insights, this research aimed to provide valuable guidance for the development and operation of a comprehensive national RD registry in India.
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Abbreviations
- AIIMS:
-
All India Institutes of Medical Sciences
- APEC:
-
Asia-Pacific Economic Cooperation region
- CSIR:
-
Council of Scientific & Industrial Research
- DGHS:
-
Directorate General of Health Services
- DoP:
-
Department of Pharmaceuticals
- DST:
-
Department of Science and Technology
- FAIR:
-
Findability, Accessibility, Interoperability, and Reusability
- ICMR:
-
Indian Council of Medical Research
- MoHFW:
-
Ministry of Health and Family Welfare
- NPRD:
-
National Policy for RDs
- NRROID:
-
National Registry for Rare and Other Inherited Disorders
- RD:
-
Rare disease
- RD-RAP:
-
RD Registry and Analytics Platform
References
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Acknowledgements
We thank the Department of Science and Technology (DST), Government of India, for providing the fellowships to MCC and PC. We also thank the DST Center for Policy Research, Indian Institute of Science, Bengaluru, India, for research support. We express our gratitude to Dr. Matthew Bellgard, Dr. V.M. Katoch, Dr. Reeta Rasaily, Dr. Sudha Bhattacharya, Dr. Alok Bhattacharya, and Dr. Deepa Bhat for sharing their valuable insights on the panel ‘Strengthening the Rare Disease Registry in India’ which was part of the ‘Rare Disease in Public Health’ virtual event organized by DST CPR and Ashoka University on the occasion of Rare Disease Week 2022. We thank Dr. Anjali Taneja for her assistance in organizing the event as a team lead from the collaborating institute, Ashoka University. We would like to thank anonymous reviewers for their comments and helping us improve our manuscript.
Funding
This study was not directly funded by any organization. However, during the study period, DST provided fellowships to PC and MCC.
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Contributions
MCC and PC conceptualized the study. AJ, PC and MCC analyzed the data. PC and MCC drafted the manuscript.
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The authors declare that they have no competing interests.
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Corresponding editor: Alok Bhattacharya
This article is part of the Topical Collection: The Rare Genetic Disease Research Landscape in India.
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Chaube, P., Lankapalli, A. & Choudhury, M.C. Lessons from the Rare Diseases Registry and Analytics Platform framework for development of a national rare diseases registry for India. J Biosci 49, 31 (2024). https://doi.org/10.1007/s12038-024-00426-x
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DOI: https://doi.org/10.1007/s12038-024-00426-x