India emerges as most active lower middle-income country in global genomic clinical research, shows WHO study

India has emerged as the most active lower middle-income country in global genomic clinical research, featuring in 235 studies between 1990 and 2024, according to a new report by the World Health Organization (WHO).

The scale of participation places India well ahead of other comparable economies, even as most genomic research continues to be designed, funded and led by high-income countries.

The WHO analysis reviewed more than 6,500 clinical studies worldwide that use human genomic technologies for disease detection, diagnosis, treatment selection and therapeutic development.

While India appears prominently in the global dataset, the report found that participation from lower middle-income countries is still limited overall, accounting for fewer than 5% of all studies registered over the past three decades.

India’s presence, the report noted, is largely driven by inclusion as a study site in multi-country trials rather than by locally led genomic programmes. “Low- and middle-income countries are rarely the leading partner,” the WHO said in the report, pointing to structural constraints such as limited sequencing infrastructure, funding gaps and restricted access to advanced genomic platforms.

Globally, genomic clinical research remains concentrated in a small group of countries. Ten nations account for more than 70% of all registered studies, with high-income settings contributing over 80% of the total. India ranks among the top five countries by annual study registrations in recent years, alongside the United States, China, France and Germany, reflecting a steady rise in trial activity since the mid-2010s.

Disease focus presents another area of imbalance. In lower middle-income countries such as India, over 60% of genomic studies focus on noncommunicable diseases, including cancer, rare diseases and metabolic disorders. These areas have seen early clinical uptake of genomics due to established use cases and industry pipelines. By contrast, only 5% of studies in these settings address communicable diseases, despite their continued public health burden.

The WHO describes this skew as a ‘missed opportunity’, particularly for conditions such as tuberculosis, HIV and malaria, where human genomic insights could inform treatment response, disease susceptibility and prevention strategies. The report noted that while pathogen genomics has advanced, studies examining human host responses to infectious diseases remain scarce, especially in lower middle-income and low-income countries.

Demographic representation is another concern raised by the analysis. More than 75% of genomic clinical studies globally focus on adults aged 18 to 64, while just 4.6% are designed for children and 3.3% for adults aged 65 and above. Although some studies allow enrolment across age groups, few are structured to generate age-specific findings, limiting the applicability of genomic tools across the life course.

For India, where disease profiles vary sharply by age and region, this raised questions about how far current genomic research can inform routine clinical care. The WHO cautioned that risk prediction tools and treatment algorithms derived mainly from adult populations may not translate well to paediatric or older patients.

The report also found that most genomic studies in lower middle-income countries rely on targeted treatment selection, screening and diagnosis, with relatively few involving gene therapy, platform validation or advanced editing technologies. This reflected persistent barriers to accessing high-end sequencing equipment and bioinformatics capacity at scale.

 “Ensuring that genomic technologies are evaluated in diverse contexts is critical to advance health equity,” the WHO said in the report, calling for greater investment in regional infrastructure, support for locally led research and closer alignment between global research agendas and national health needs.

For India, the findings arrive at a time when hospitals, diagnostic chains and biotech firms are expanding their genomics capabilities, particularly in oncology, rare diseases and prenatal testing. The report suggested that while participation volumes have improved, the next phase will depend on whether India can move beyond being a trial location to shaping research questions, platforms and datasets.

Without stronger domestic leadership in genomic research, the WHO warned, lower middle-income countries risk remaining dependent on externally driven programmes, limiting the long-term public health impact of rapidly advancing genomic technologies.