Genomic newborn screening in India: Opportunities, evidence, and roadmap

Genomic newborn screening (gNBS) is a new concept that leverages genomic sequencing for newborn screening (NBS) of genetic diseases, a subtle departure from the traditional biochemical approaches. gNBS is swiftly moving from small and isolated proof-of-concept studies to large-scale public health studies and implementation programs worldwide. Over the past decade, advances in sequencing technology, bioinformatics, and clinical genetics have expanded the scope of conditions that can be detected early, enabling timely interventions that improve outcomes. While traditional biochemical approaches for NBS have undoubtedly improved outcomes for many metabolic and endocrine disorders, they fail to detect conditions that do not have early biochemical markers and are also unable to scale up to a slew of new treatment approaches currently available for many genetic diseases. gNBS, therefore, provides a unique opportunity to diagnose early and identify actionable genetic risks, where early intervention can improve prognosis. Globally, pilot and implementation programs in the United Kingdom, the United States, Europe, and Australia are demonstrating feasibility, diagnostic yield, and public health value. India has a unique set of factors, including large birth cohorts, established health delivery systems, increasing rare-disease initiatives, and developing national genomic databases. These create a rare chance to create and test a gNBS program in India that focuses on actionable results. This review discusses the rationale, current global landscape, operational and ethical considerations, and India-specific opportunities and challenges for implementing gNBS as part of the national health strategy.