临床研究中的人类基因组学技术——研究领域：1990-2024年报告

Genomic technologies are becoming increasingly central to clinical practice, with the potential to transform the waydiseases are diagnosed, treated and monitored. This snapshot provides a global overview of clinical studies involving human KEY MESSAGES Human genomic data use in clinical studies is accelerating.Since 1990, over 6500 studies involving human genome analysis have been registered globally, with rapid growth after 2010 owing to improved sequencing technologies, lower costs and expanded clinical applications. Genomic research is geographically concentrated.Ten countries account for over 70% of genomic studies, with 68% in high-income settings and less than 0.5% in low-income ones. This concentration reflects global disparities in research capacity and access, even within wealthier nations where accessto genomic research and medicine may vary by ethnicity, socioeconomic status or geographical location. Genomic research is centered on noncommunicable diseases, although infectious diseases represent an untappedpotential. Over 75% of genomic studies concern noncommunicable conditions such as cancer, rare diseases and metabolic disorders, where clinical applications are well established. Given the report's focus on human (rather than pathogen) genomics this is notsurprising, but it reveals a missed opportunity to apply human genomic insights to infectious diseases. Genomics could informtargeted treatment, predict susceptibility or guide prevention strategies for high-burden conditions such as tuberculosis, HIV Participation in genomic studies is uneven across the life course.Most studies to date focus on an adult cohort. Only 4.6% of studies focused on children and 3.3% on older adults. Few studies explicitly included both paediatric and geriatric populations. These gaps may reduce the relevance of genomic findings forpopulations at different stages of life and limit the development of age-specific interventions. Efforts to improve equity and impact will require more inclusive, globally aligned research strategies.Addressing the current imbalances in study geography, disease focus and participant demographics will require stronger global coordination, investment in genomic infrastructure and broader engagement across underrepresented settings. Ensuring thatgenomic technologies are evaluated in diverse contexts is critical to advance health equity and achieve the full potential of Introduction Genomic technologies are increasingly integrated into biomedical research and health care, enabling the identification ofdisease-associated variants, improving diagnostic precision and supporting the development of personalized medicine1,2,3. Over the past three decades, genomic research has shifted from fundamental discovery to widespread clinical applications.The completion of the Human Genome Project in 2003 laid the foundation for modern genomics7, while subsequentinnovations such as next-generation sequencing8, genome-wide association studies9,10and CRISPR-based gene editing11 In this report, genomic clinical studies are defined as studies that incorporate human genomic data for the purposes ofguiding disease detection, classification, treatment selection or therapeutic development. They include interventional andobservational studies to evaluate genetically targeted therapies, pharmacogenomic responses, diagnostic tools and gene Although sequencing technologies have become more accessible, their uptake remains uneven across the globe14. Clinicalresearch remains concentrated in high-income settings, with low- and middle-income countries underrepresented in termsof participation and infrastructure. Gaining a better understanding of where studies are taking place, which populations are This global snapshot analyses over 6500 clinical studies involving human genomic technologies registered between 1990 and2024 via WHO’s International Clinical Trials Registry Platform (ICTRP). It provides insights into trends by disease, geography,inclusion and equity, and assists policymakers, funders and research leaders to set priorities, expand access and ensure that Genomic clinical studies are expanding,with a notable increase in cancer and rare disease1 Global research activity in genomic technologies has expanded steadily over the past three decades, with a marked increasesince the mid-2000s. This trend has followed the wider integration of next-generation sequencing into research and clinical Between 1990 and 2024, more than 6500 studies involving human genetic and genomic technologies were registered viaWHO’s International Clinical Trials Registry Platform (ICTRP). Study numbers began rising sharply after 2012, a pattern thatreflects declining costs and improved instrumentation (Fig. 1). A more flexible degree of scalability, widespread availability Furthermore, the surge in trial registration through the 2010s suggests a turning point in the clinical adoption of genomics,particularly in oncology a