Genomic disease research: A new analysis by the World Health Organization reveals that wealthy nations dominate the field of genomic disease research, conducting more than 80 per cent of such studies worldwide. Less than 5 per cent of genomic clinical trials take place in countries with lower incomes.
The WHO examined over 6,500 genomic clinical studies registered through its International Clinical Trials Registry Platform from 1990 to 2024. Registration numbers increased sharply after 2010 as DNA sequencing technology improved, became cheaper and found broader use.
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China registered the most genomic clinical studies during the three-decade period, ahead of the United States and Italy. India ranked among the top 20 nations.
When lower-income countries did participate in genomic research, they typically served as secondary study locations in multinational trials rather than leading the work. India appeared in 235 studies, Egypt in 38, South Africa in 17 and Nigeria in 14, according to the report titled ‘Human genomics technologies in clinical studies-the research landscape.’
Cancer, rare diseases and metabolic disorders represent more than three-quarters of genomic research globally. These areas were among the earliest to demonstrate practical applications for genomic science, researchers noted.
The analysis found infectious diseases received limited attention despite their significant health impact worldwide. Communicable diseases accounted for just 3 per cent of genomic studies, even though they remain major health threats in many regions. Tuberculosis, HIV and malaria continue as critical public health challenges in resource-limited areas, yet genomic studies examining human vulnerability to these diseases, treatment effectiveness or interactions between hosts and pathogens remain scarce.
The WHO analysis also identified demographic gaps in genomic research. Adults aged 18 to 64 comprised more than 75 per cent of study participants. Only 4.6 per cent of studies focused on children, while 3.3 per cent examined older adults.
The report calls for genomic research that better represents global populations and addresses local health needs. Recommendations include greater investment in genomic research facilities and expertise in underrepresented regions, broader inclusion of children, older adults and other overlooked groups, better matching of research priorities with local disease patterns, and stronger leadership roles for research institutions based in lower and middle-income countries.