NEWBORN SCREENING FOR RARE GENETIC DISORDERS IN INDIA: A NARRATIVE REVIEW

Abstract

Rare genetic disorders constitute a significant yet under-recognized public health challenge in India, where high birth rates, genetic diversity, consanguinity, and limited diagnostic infrastructure contribute to delayed diagnosis and increased disease burden. Newborn screening (NBS) has emerged globally as an effective strategy for early detection and management of inherited metabolic, hematological, and genetic disorders. This narrative review evaluates the current status of newborn screening for rare genetic disorders in India, focusing on epidemiology, screening technologies, policy frameworks, ethical concerns, and future implementation strategies. A narrative review approach was adopted using recent literature, government policies, international screening frameworks, and peer-reviewed studies related to rare diseases, genomic medicine, and newborn screening programs in India and other countries. The study highlights that India continues to face major challenges including fragmented screening programs, inadequate registries, limited laboratory infrastructure, workforce shortages, and high treatment costs. Advances in tandem mass spectrometry, molecular diagnostics, genomic sequencing, and artificial intelligence are expanding the diagnostic capabilities of modern NBS systems. International models from the United States, United Kingdom, and Taiwan demonstrate the importance of integrated governance, sustainable financing, and ethical oversight in successful NBS implementation. A comprehensive national NBS framework integrating genomic medicine, rare disease registries, public health infrastructure, and sustainable financing mechanisms is essential for improving early diagnosis, reducing disability burden, and strengthening rare disease management in India.