Human genomics research uses sequencing technologies and analytical tools to study genetic variation and its role in health and disease. These methods support clinical research, precision medicine, diagnostics, and translational science. A new World Health Organization (WHO) global analysis of human genomics research registered between 1990 and 2024 shows rapid expansion of genomic technologies in clinical studies, while also revealing substantial gaps in genomic equity, representation, geography, and disease focus. These trends carry important implications for laboratory operations, research strategy, and ethical leadership in labs that support genomic studies.
Human genomics research growth and technologies shaping clinical studies
The WHO report reviews more than 6,500 registered clinical studies and documents significant growth in human genomics research after 2010 amid declining sequencing costs and expanding clinical applications. Much of this work centers on cancer and rare diseases, where genomics is deeply integrated into research and care models.
Laboratories supporting these studies rely on next-generation sequencing platforms, sample-processing workflows, bioinformatics pipelines, and secure data-management systems. Lab managers coordinate sequencing capacity, staffing expertise, quality-control processes, and data-governance practices to ensure accurate analysis and reliable research outputs. As genomic applications expand, laboratory operations increasingly intersect with policy, ethics, and collaboration frameworks.
Genomic equity gaps across regions and populations
The analysis identifies major inequities in human genomics research participation and benefit. More than 80 percent of studies occurred in high-income countries, while fewer than five percent were conducted in low- and middle-income countries. Many institutions in low- and middle-income countries (LMIC) participated only as secondary sites due to limited sequencing infrastructure and research capacity.
Demographic representation also shows a clear imbalance. More than 75 percent of studies focused on adults ages 18-64, while only a small share included children or older adults. Communicable diseases—still central to public health priorities in many regions—accounted for just a small fraction of genomic clinical studies. These gaps affect data diversity, the applicability of findings across populations, and the long-term scientific and clinical value of human genomics research.
What the findings mean for laboratory operations and leadership
For laboratory managers, the WHO report emphasizes several areas of responsibility and opportunity:
- Planning for sustainable sequencing capacity, talent development, and data-management capabilities
- Supporting inclusive study design and ethical recruitment practices that improve demographic representation
- Structuring collaborations that strengthen local leadership and research capability in underrepresented regions
- Aligning research portfolios with disease burdens relevant to the communities being served
- Embedding responsible and socially informed use of genomic technologies into laboratory governance
These actions can improve scientific quality, increase the relevance of study outcomes, and strengthen the role of laboratories as partners in equitable research ecosystems.
Recommendations for more inclusive and equitable human genomics research
The report calls for coordinated global action to expand equitable access to genomic science and ensure that research benefits all populations. Key recommendations include increased investment in genomic infrastructure in underrepresented regions, greater inclusion of children, older adults, and other excluded groups, stronger leadership by LMIC-based research institutions, better alignment of research agendas with regional health needs, and commitment to ethical and socially responsible 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,” said Meg Doherty, MD, WHO director of the Department of Science for Health. “WHO will support efforts to ensure that genomic research reflects the diversity of global populations and public health needs.”
This article was created with the assistance of Generative AI and has undergone editorial review before publishing.
