Improving newborn screening in India: Disease gaps and quality control

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.