Human genomic technologies are now a routine part of clinical research, supporting disease diagnosis, risk stratification, treatment selection, and therapeutic development. A new World Health Organization (WHO) landscape analysis examines how these tools have been used in clinical studies over the past three decades, drawing on more than 6,500 clinical trials registered globally between 1990 and 2024¹. 

The report shows rapid growth in genomic clinical studies since the early 2010s, driven by wider access to sequencing technologies, lower costs, and expanding clinical applications. It also highlights persistent imbalances. Research activity is concentrated in a small number of high-income countries. Research in these settings focuses largely on noncommunicable diseases (NCDs) and adult populations. The patterns exposed raise questions about how well current genomic evidence reflects global disease burden and population diversity, and whether the benefits of genomic medicine are being distributed equitably. 

Methods & Findings

The analysis draws on clinical studies registered in the WHO International Clinical Trials Registry Platform (ICTRP) between 1990 and 2024. The studies included used human genomic data to inform disease detection, classification, treatment selection, or therapeutic development. Studies based solely on pathogen genomics were excluded. 

More than 6,500 eligible studies were identified. Registration increased gradually through the 1990s and early 2000s, then rose sharply after 2012. This shift coincided with the broader uptake of next-generation sequencing, improved bioinformatics, and falling sequencing costs. Study numbers dropped again after 2021, likely reflecting disruption brought on by the COVID-19 pandemic, before rising again in 2024. 

Over 75% of genomic clinical studies address NCDs, like cancer, rare diseases, or metabolic disorders. Oncology and rare disease research alone account for more than half of all studies. Communicable diseases represent around 3% of genomic studies, despite their continued contribution to global morbidity and mortality. 

The most common clinical applications of genomics in studies registered between 2016 and 2024 were screening and diagnosis, targeted treatment selection, and pharmacogenomics, respectively. Fewer studies involved gene therapy, genome editing, or validation of genomic tools, reflecting both regulatory and infrastructural barriers. 

Geographic distribution is highly uneven. Ten countries account for 70% of all included genomic clinical studies, and more than 80% were conducted in high-income countries. Less than 5% of studies involved lower-middle or low-income countries. When low- and middle-income countries (LMICs) did participate, they were often included as sites in multicountry studies rather than as lead investigators. 

Sex inclusion is generally balanced, but sex-stratified analyses and explicit considerations of biological diversity are uncommon. Other participant demographics show more marked imbalances. Most studies include adults aged 18 to 64. Only 4.6% focus specifically on pediatric populations, and 3.3% focus on adults aged 65 and over. 

Interpretation

The expansion of genomic clinical studies reflects technical maturity and clear clinical utility in some disease areas. Cancer and rare diseases account for most studies because genomics offers well-defined benefits for molecular classification, diagnosis, and treatment selection. These fields also benefit from established clinical pathways, regulatory incentives, and sustained investment. Growth in these areas signals successful translation, but also narrows the scope of genomic evidence. 

The concentration of studies in high-income countries limits how findings translate across populations. Genomic tools developed and validated in a small set of populations may perform less well elsewhere, particularly where genetic diversity, environmental exposures, and health systems differ. The structural barriers that limit leadership roles for LMICs in genomics studies further constrain local capacity building and weaken alignment with regional health priorities. 

Disease focus reveals another mismatch. Communicable diseases remain a major cause of illness and death in many parts of the world, yet they account for a small fraction of genomic clinical studies. This gap suggests missed opportunities to apply human genomics to susceptibility, treatment response, and prevention in high-burden settings. 

Population inclusion patterns raise similar concerns. Study designs are largely focused on adults aged 18 to 64. Even when included, children and older adults are rarely the primary focus of these studies, and age-specific stratification is uncommon. This limits the relevance of genomic tools across the life course and risks embedding bias into risk prediction models and clinical decision support systems. 

While the downstream clinical impact is difficult to quantify, the growth in genomic research has already translated into tangible benefits for patients. The WHO analysis shows that most genomic clinical studies focus on screening and diagnosis, treatment selection, and pharmacogenomics, areas where genomics can influence care well before therapeutic approval. These applications shape patient care earlier and more broadly than therapeutic development alone, suggesting that the real-world impact of genomics is already being felt, even as gaps in access and representation persist.

These findings provide evidence that genomic medicine is advancing unevenly. Technical progress has outpaced attention to equity, representativeness, and global relevance. Without broader inclusion by geography, disease burden, and population group, the clinical impact of genomics will remain partial rather than universal. 

Conclusions

This WHO report shows that human genomics has become firmly embedded in clinical research, with sustained growth over the past 30 years and clear traction in oncology and rare disease studies. At the same time, it documents persistent imbalances in where studies are conducted, which diseases are prioritized, and which populations are represented. 

The findings point to a gap between technical capability and global impact. Genomic tools are advancing fastest in settings with established infrastructure and funding, while regions with high infectious disease burden and limited research capacity remain underrepresented. Similar gaps appear across the life course, with children and older adults rarely forming the focus of study design or analysis. 

If genomic medicine is to support equitable clinical care, future research will need to broaden its scope. This includes greater study ownership in LMICs, closer alignment with global disease burden, and study design that reflects population diversity in age, sex, and context. Without these shifts, the promise of clinical genomics will remain realised only by the few. 

References

1. World Health Organization. Human Genomics Technologies in Clinical Studies - the Research Landscape: Report on the 1990-2024 Period. World Health Organization; 2025. doi:10.2471/B09581