WHO releases global report uncovering significant disparities in human genomics studies

WHO releases global report uncovering significant disparities in human genomics studies

Geneva, 2025 – The World Health Organization (WHO) has released an in-depth global overview of the use of human genomics in clinical research, spanning over thirty years of registered studies from 1990 to 2024. Entitled Human Genomics Technologies in Clinical Studies – The Research Landscape, the report is supported by an interactive dashboard offering the most detailed look yet at how genomic technologies are being applied in clinical settings. It also sheds light on significant disparities in equity and access within the field.

The study reveals a sharp increase in the use of genomics in clinical trials, with more than 6,500 studies registered globally. This surge, particularly notable after 2010, has been fueled by technological progress in sequencing, declining costs, and broader medical applications. Research in cancer and rare conditions is most prevalent, reflecting the strong integration of genetics into these medical areas.

Nonetheless, the report emphasizes a pronounced imbalance in the global distribution of this research. Over 80% of clinical genomics studies have been conducted in high-income nations, while fewer than 5% took place in low- and middle-income countries (LMICs). Often, LMICs were only involved as secondary sites, hindered by limited resources and a lack of infrastructure for genomics research.

The report also highlights important demographic disparities. Adults aged 18 to 64 made up more than 75% of study participants, while only 4.6% of studies focused on children, and just 3.3% included older adults. Despite the global burden of infectious diseases, these accounted for merely 3% of genomics-related clinical trials.

The findings stress the urgent need for more representative, geographically inclusive, and socially aware genomic research. Expanding research capabilities in underrepresented areas, improving demographic diversity in studies, and aligning research priorities with local health challenges are essential to making genomics a tool for advancing health equity globally.

Achieving equitable access to genomics

The report urges international collaboration to ensure that the benefits of genomics reach all populations. Key strategies recommended include:

• expanding genomic research infrastructure and support in underserved regions;

• increasing participation of children, older adults, and other marginalized groups in studies;

• empowering research institutions in LMICs to lead studies and set research agendas;

• tailoring genomic research to match local health priorities and disease patterns; and

• committing to ethical, inclusive, and equitable use of genomic technologies.

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