The World Health Organization (WHO) has published a new global analysis of human genomics in clinical research, covering over three decades of studies registered between 1990 and 2024. The report, Human genomics technologies in clinical studies – the research landscape, together with an accompanying interactive dashboard, provides the most comprehensive overview to date of how human genomic technologies are being applied in clinical research and highlights gaps in equity and inclusion.

The analysis shows rapid growth in the use of genomics in clinical studies, with over 6,500 studies registered globally and a steep rise after 2010, driven by advances in sequencing technologies, lower costs and expanded clinical applications. Cancer and rare diseases dominate the research landscape reflecting strong integration of genomics in these fields.

However, the report highlights a striking imbalance in where and for whom this research is conducted. Over 80 percent of genomic clinical studies were concentrated in high-income countries, while fewer than five percent were conducted in Low- and Middle-Income Countries (LMICs). In many cases, LMICs participated only as secondary study sites, constrained by limited sequencing capacity and research infrastructure.

Significant demographic gaps were also evident. More than 75 percent of studies included adults aged 18 to 64 years, while only 4.6 percent focused specifically on children and just 3.3 percent on older adults. Communicable diseases – which remain a major public health concern in many regions – were markedly underrepresented, accounting for only three percent of all genomic clinical studies.

The report underscores the need for more inclusive, geographically diverse and context responsive genomic research. Strengthening research capacity in underrepresented regions, improving demographic inclusion and aligning genomic research with population health needs are critical to ensuring that genomics contributes to health equity and benefits people in all settings.

The report calls for coordinated global action to ensure that genomic research contributes to health equity and reflects the diversity of populations worldwide. Key recommendations include increased investment in genomic infrastructure and research capacity in underrepresented regions; greater inclusion of children, older adults and other systematically excluded groups; stronger leadership by LMIC-based research institutions; better alignment of genomic research agendas with local disease burdens; and commitment to ethical, socially-responsible and equitable application of genomic tools.

“Genomic technologies have extraordinary potential to transform health. However, the disparities reflected in the report, unless strategically addressed, could reinforce existing inequities and limit the benefits of genomic science for populations who could benefit most. WHO will support efforts to ensure that genomic research reflects the diversity of global populations and public health needs,” said Dr Meg Doherty, Director, Department of Science for Health, WHO.