Only 5% of low- and middle-income genetic research focus on disease
A recent global analysis by the World Health Organization reveals that over 80 per cent of genomic studies focused on diseases are concentrated in high-income countries, while less than five per cent are conducted in low and middle-income countries. According to the WHO’s International Clinical Trials Registry Platform, over 6,500 genomic clinical studies were registered worldwide from 1990 to 2024, with a significant increase noted after 2010. This surge is attributed to advancements in sequencing technologies, reduced costs, and broader applications. China topped the list of the top ten countries ranked by the total number of genomic clinical studies registered over the past three decades, with the United States and Italy following closely behind. India ranked among the top 20 countries.
“Fewer than five per cent of all studies were conducted in lower middle-income and low-income countries combined, while high-income countries accounted for over 80 per cent of all genomic studies,” the authors of the ‘Human genomics technologies in clinical studies-the research landscape’ report stated. Low and middle-income countries were included as study sites within multicountry studies, but rarely as the leading partner — India figured in 235 studies, Egypt in 38, South Africa in 17 and Nigeria in 14, the report said.
Cancer, rare diseases, and metabolic disorders constitute more than 75 percent of genomic studies globally – these research areas were among the pioneers in demonstrating a clear application of genomics, the authors noted. Nevertheless, the trend indicates a missed opportunity to leverage insights from human genomics in addressing infectious diseases, which the team emphasized are a global health priority. The authors stated, “Communicable diseases accounted for just three per cent of all genomic studies, despite their ongoing contribution to the global disease burden. Conditions such as tuberculosis, HIV and malaria continue to be major public health priorities in many low-resource settings, yet genomic studies investigating human susceptibility, treatment response or host-pathogen interactions are scanty,” they stated.
The WHO analysis revealed significant gaps in the demographics represented in the genomic studies, indicating that over 75 percent of the research involved adults aged 18-64, while only 4.6 percent specifically focused on children and 3.3 percent on older adults. The report emphasized the need for genomic research that is more inclusive, geographically diverse, and responsive to context. The authors urged for a unified global effort to guarantee that genomic research advances health equity and mirrors the diversity of the world’s population. Recommendations emphasized the need for enhanced investment in genomic infrastructure and research capacity in underrepresented regions, as well as the inclusion of more children, older adults, and other excluded groups in studies. The authors also proposed a more effective alignment of genomic research agendas with local disease burdens, alongside a call for enhanced leadership from research institutions based in LMICs.
