Abstract
Genotyping has rapidly evolved from early PCR-based assays and Sanger sequencing to advanced next-generation sequencing (NGS) and AI-assisted variant interpretation, becoming an indispensable tool in modern clinical practice and biomedical research. Its applications extend across pharmacogenomics, carrier screening, disease risk prediction, oncology, infectious disease monitoring, forensic analysis, and population genetics. Clinical integration of genotyping has enabled personalized medicine, improving drug safety and efficacy, predicting disease susceptibility, and guiding targeted therapies. Globally, genotyping is well established, with widespread adoption of pharmacogenomic panels, expanded carrier screening, and tumor profiling. In India, however, clinical genomics remains limited by high costs, lack of awareness, infrastructural constraints, and insufficient clinician training. Ethical, legal, and privacy concerns further challenge large-scale implementation. Emerging innovations such as rapid point-of-care genotyping, AI-based variant interpretation, liquid biopsy technologies, and integration with electronic health records (EHRs) promise to overcome these barriers and expand accessibility. With decreasing costs, regulatory support, and national initiatives like GenomeIndia, genotyping is poised to play a transformative role in advancing precision medicine and public health in India and worldwide.