Comprehensive Rare Disease Care model for screening and diagnosis of rare genetic diseases - an experience of private medical college and hospital, South India
| Autor: | Jagadish Kumar K, Col M Dayananda, H Basavanagowdappa, Sathish Raju Nilakantam, Deepa Bhat, M D Ravi |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty business.industry Public health Genetic counseling Communication Specialty Developing country General Medicine Disease 030105 genetics & heredity Unit (housing) 03 medical and health sciences 0302 clinical medicine Family medicine medicine Medical genetics business 030217 neurology & neurosurgery Rare disease |
| Zdroj: | Intractable Rare Dis Res |
| ISSN: | 2186-3644 |
| Popis: | Rare diseases (RD) of genetic origin are raising public health concern contributing to a massive economic burden in India. Establishing Specialty Centers to bridge the RD community with apex centers is felt as a need in developing countries. Hence a Comprehensive Rare Disease Care (CRDC) model was set up at the department of pediatrics under Center for Human Genomics and Counseling at a medical college hospital in South India. The patients suspected to have genetic disease were evaluated as per the work flow of the designed model. The utilization statistics depict the outcome of this model. In the face of limited resources, it was possible to establish a functional RD unit with meticulous planning, supportive administration and trained interdisciplinary staff. A scalable prototype that could be replicated in other Medical colleges and Hospitals of India is described. |
| Databáze: | OpenAIRE |
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