Only 5% disease-focused genomic studies in low, middle-income nations: WHO

More than 80 per cent of genomic studies across the world looking into diseases are concentrated in high-income countries, and under five per cent in low and middle-income countries, according to a new global analysis by the World Health Organization (WHO).

More than 6,500 genomic clinical studies were registered globally between 1990 and 2024 via the WHO's International Clinical Trials Registry Platform, with a steep rise after 2010 driven by advances in sequencing technologies, lower costs and wider applications, it said.

China led the list of top ten countries ranked by total number of genomic clinical studies registered over the past three decades, followed by the United States and Italy. India featured 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," authors of the 'Human genomics technologies in clinical studies-the research landscape' report said.

Low and middle-income countries (LMICs) 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 account for over 75 per cent of genomic studies around the world -- the fields of research were among the first to show a clear use of genomics, the authors said.

However, the trend reveals a missed opportunity to apply insights into human genomics to infectious diseases, which are a global health priority, the team said.

The authors wrote, "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 said.

The WHO analysis also uncovered gaps in the demographic included in the genomic studies, with more than 75 per cent involving adults aged 18-64 -- only 4.6 per cent focussed specifically on children and 3.3 per cent on older adults.

More inclusive, geographically diverse and context-responsive genomic research are required, the report said.

The authors called for a coordinated global action to ensure genomic research contributes to health equity and reflects the world's population diversity.

Recommendations included an increased investment in genomic infrastructure and research capacity in under represented regions, and including more children, older adults and other excluded groups in studies.

The authors also suggested a better alignment of genomic research agendas with local disease burdens as well as a stronger leadership by LMIC-based research institutions.