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<p>Over the past 25&#xa0;years, genomics has progressed from the completion of the Human Genome Project (HGP) to a mature, integrative ecosystem that integrates next generation sequencing (NGS), functional genomics, single-cell and spatial multiomics, genome editing, and clinical implementation. This review traces key developments from 2000 to 2025, highlighting the evolution of sequencing platforms (short- and long-read) and their complementary strengths for variant discovery, transcriptomics, and epigenomics. It examines how human pangenomes and population-scale initiatives enhance diagnostic accuracy and promote equity, and how NGS underpins the transition from bulk profiling to single-cell and spatial assays that resolve cellular states and tissue context. Outlines the impact of NGS on precision medicine across oncology, rare disease, infectious disease, reproductive genomics, and pharmacogenomics—including liquid biopsy applications and rapid genome diagnostics. Genome editing—from CRISPR-based modalities to emerging compact editors—is reviewed alongside standards for validation, safety and ethical governance. Advances in bioinformatics and artificial intelligence (AI) now accelerate data interpretation, enabling scalable, reproducible analysis and decision support while underscoring persistent challenges in generalizability, data governance, and reimbursement. Together, these technological and analytical advances are reshaping genomic medicine toward a more predictive, personalized, and equitable model of care.</p>

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From genomes to precision medicine: 25 years of breakthroughs in genetics and genomics

  • 期刊论文

  • 发表日期：

    2026年2月14日

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  • Solomon G. Hailu

摘要

Over the past 25 years, genomics has progressed from the completion of the Human Genome Project (HGP) to a mature, integrative ecosystem that integrates next generation sequencing (NGS), functional genomics, single-cell and spatial multiomics, genome editing, and clinical implementation. This review traces key developments from 2000 to 2025, highlighting the evolution of sequencing platforms (short- and long-read) and their complementary strengths for variant discovery, transcriptomics, and epigenomics. It examines how human pangenomes and population-scale initiatives enhance diagnostic accuracy and promote equity, and how NGS underpins the transition from bulk profiling to single-cell and spatial assays that resolve cellular states and tissue context. Outlines the impact of NGS on precision medicine across oncology, rare disease, infectious disease, reproductive genomics, and pharmacogenomics—including liquid biopsy applications and rapid genome diagnostics. Genome editing—from CRISPR-based modalities to emerging compact editors—is reviewed alongside standards for validation, safety and ethical governance. Advances in bioinformatics and artificial intelligence (AI) now accelerate data interpretation, enabling scalable, reproducible analysis and decision support while underscoring persistent challenges in generalizability, data governance, and reimbursement. Together, these technological and analytical advances are reshaping genomic medicine toward a more predictive, personalized, and equitable model of care.