Genomic technologies are rapidly advancing and have accelerated discoveries across a range of conditions including cancer, rare diseases, infectious diseases and complex noncommunicable disorders. These technologies have improved clinical practice and biomedical research by enabling more precise diagnoses and supporting the development of personalised medicine.
The results of their application in clinical research between 1990 and 2024 have been published by the World Health Organization (WHO) in the new report Human genomics technologies in clinical studies – the research landscape and are also presented in an interactive dashboard.
The report examines patterns in research growth, disease focus, geographical distribution, population inclusion and equity of participation. The key findings include:
- Human genomic data use in clinical studies is accelerating. More than 6500 studies have been registered globally with rapid growth after 2010 driven by advances in sequencing technologies, lower costs and expanded clinical applications.
- Genomic research is geographically concentrated. More than 80% of genomic clinical studies are concentrated in high-income countries, while fewer than 5% are conducted in low- and middle-income countries (LMICs). In many cases, LMICs participate only as secondary study sites, constrained by limited sequencing capacity and research infrastructure. This concentration reflects global disparities in where and for whom the research is conducted.
- Genomic research is centred on noncommunicable diseases. Over 75% of genomic studies concern conditions such as cancer, rare diseases and metabolic disorders. Communicable diseases, which remain a major public health concern in many regions, are markedly underrepresented, accounting for only 3% of all genomic clinical studies.
- Participation in genomic studies is uneven across the life course. More than 75% of studies include adults aged 18–64 years, while only 4.6% focus specifically on children and just 3.3% on older adults.
- 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.
Genomic clinical research continues to be largely concentrated in adult populations, despite the relevance of age-related factors for clinical aspects, including disease susceptibility and treatment response. This pattern is particularly evident in rare disease research: although most rare conditions have a paediatric onset, studies often enrol participants across a broad age range rather than focusing exclusively on children, largely due to recruitment and eligibility constraints. As a result, emerging precision medicine approaches, including risk prediction tools and treatment algorithms, may be less inclusive and have more limited applicability across different life stages.
Overall, the findings highlight that the benefits of genomic technologies are not shared equally worldwide. Greater efforts are needed to invest in infrastructure, foster inclusive study designs and align research agendas with the public health needs of diverse populations in order to ensure that genomics contributes to health innovation for all.
