⁠A prospective study on Genomic Insights into Human Health and Disease

Abstract

Introduction: The field of genomics has become integral to understanding human health and disease. Genomics has emerged as a transformative discipline, reshaping our understanding of human health and disease. By identifying genetic variations, regulatory mechanisms, and molecular pathways, genomics bridges the gap between biology and clinical practice. Recent advances in sequencing and computational biology have facilitated the identification of genetic variants underlying both common and rare disorders.

Materials and Methods: This was a prospective, multicenter, observational study conducted among 480 patients with cancer, cardiovascular, neurological, and rare genetic disorders was undertaken between January 2024–June 2025. Whole-exome sequencing (WES), genome-wide association studies (GWAS), and transcriptomic profiling were applied. Inclusion criteria included adults aged 18–70 years consenting to testing; exclusion criteria encompassed terminal illness (<6 months survival) and inability to consent.

Results: Pathogenic or likely pathogenic variants were identified in 38% of patients. GWAS highlighted novel associations in 14% of cases, while transcriptomic profiling revealed disease-specific gene expression in 32%. Six tables summarize demographics, diagnostic yield, clinical impact, pharmacogenomic findings, cost-effectiveness, and comparison with previous studies.

Conclusion: Genomics provides critical insights into the etiology, diagnosis, and management of human disease. Its integration into clinical medicine enhances precision healthcare but requires improved infrastructure, ethical governance, and equitable access.