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Improving newborn screening in India: Disease gaps and quality control
Sanjyoti A Panchbudhe1, Rajni R Shivkar1, Arnab Banerjee2
1Shrimati Kashibai Navale Medical College and General Hospital, Narhe, Pune 411041, Maharashtra, India.
Insights
Newborn screening (NBS) in India faces challenges in technology, funding, and awareness. Advancements in genomics and AI offer potential to improve early detection of infant health issues and enhance outcomes.
Area of Science:
- Genomics and Bioinformatics
- Public Health
- Neonatal Medicine
Background:
- Newborn screening (NBS) is crucial for early detection of infant health conditions in India.
- Despite progress, NBS programs face significant challenges including technological limitations, funding issues, inadequate counseling, and awareness gaps.
- India's advancements in genomics, particularly with institutions like the National Institute of Biomedical Genomics, provide a foundation for improving NBS.
Purpose of the Study:
- To highlight the persistent challenges in India's newborn screening programs.
- To explore the transformative potential of emerging technologies like genetic testing, next-generation sequencing, AI, and machine learning in enhancing NBS.
- To emphasize the need for addressing systemic issues and strengthening national NBS initiatives.
Main Methods:
- Review of current challenges in Indian NBS programs, including technology, budget, counseling, and awareness.
- Analysis of advancements in genetic testing, next-generation sequencing, and artificial intelligence for potential NBS integration.
- Discussion of strategies for program enhancement, including public awareness, inter-agency coordination, and quality control.
Main Results:
- NBS programs in India are hindered by technological, budgetary, counseling, and awareness deficits.
- Genetic testing, next-generation sequencing, AI, and machine learning hold significant promise for revolutionizing NBS efficiency and enabling personalized healthcare.
- Addressing information gaps, health inequities, funding, and counseling is critical for successful NBS implementation.
Conclusions:
- Strengthening national NBS requires increased public awareness, coordinated governmental efforts, and robust quality control.
- Future NBS enhancement in India depends on public education, expanded screening, improved quality control, government incentives, partnerships, and expert training.
- Technological innovation and improved counseling are vital for better neonatal health outcomes and program sustainability nationwide.
Abstract:
In India, newborn screening (NBS) is essential for detecting health problems in infants. Despite significant progress, significant gaps and challenges persist. India has made great strides in genomics dueto the existence of the National Institute of Biomedical Genomics in West Bengal. The work emphasizes the challenges NBS programs confront with technology, budgetary constraints, insufficient counseling, inequality in illness panels, and a lack of awareness. Advancements in technology, such as genetic testing and next-generation sequencing, are expected to significantly transform the process. The integration of analytical tools, artificial intelligence, and machine learning algorithms could improve the efficiency of newborn screening programs, offering a personalized healthcare approach. It is critical to address gaps in information, inequities in illness incidence, budgetary restrictions, and inadequate counseling. Strengthening national NBS programs requires increased public awareness and coordinated efforts between state and central agencies. Quality control procedures must be used at every level for implementation to be successful. Additional studies endeavor to enhance NBS in India through public education, illness screening expansion, enhanced quality control, government incentive implementation, partnership promotion, and expert training. Improved neonatal health outcomes and the viability of the program across the country will depend heavily on new technology and counseling techniques.
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