India has established itself as the leading lower middle-income country in the field of global genomic clinical research, participating in 235 studies from 1990 to 2024, as highlighted in a recent report by the World Health Organization (WHO). This significant involvement positions India ahead of its peers in similar economic strata, even as the majority of genomic research continues to be orchestrated by high-income countries.

The WHO’s analysis encompassed over 6,500 clinical studies that leverage human genomic technologies for detecting, diagnosing, and treating diseases. While India’s engagement in this global dataset is notable, the report reveals that participation from lower middle-income countries remains generally limited, constituting less than 5% of all studies registered in the last thirty years.

India’s prominence in genomic research largely stems from its role as a study site in multinational trials rather than from independently initiated genomic programs. The WHO emphasizes the challenges faced by low- and middle-income countries, including inadequate sequencing infrastructure, funding deficiencies, and limited access to advanced genomic tools.

In a broader context, the concentration of genomic clinical research is heavily skewed toward a handful of countries. Ten nations account for over 70% of all registered studies, with high-income countries contributing more than 80% of the total. Recently, India has ranked among the top five nations for annual study registrations, alongside the United States, China, France, and Germany, showcasing a consistent increase in trial activities since the mid-2010s.

The report also highlights an imbalance in disease focus within lower middle-income countries like India, where more than 60% of genomic studies concentrate on noncommunicable diseases, including cancer and metabolic disorders. Conversely, only 5% of studies target communicable diseases, such as tuberculosis and HIV, which remain pressing public health issues. The WHO describes this gap as a ‘missed opportunity,’ considering the potential of human genomic research to enhance treatment responses and prevention strategies for these communicable diseases.

Another significant concern raised in the report is demographic representation in genomic research. Over 75% of studies globally cater to adults aged 18 to 64, while a mere 4.6% focus on children and 3.3% on adults aged 65 and older. This lack of age-specific design raises questions about the applicability of current genomic research to diverse populations, particularly in a country like India where health profiles shift dramatically across age groups.

Furthermore, most genomic studies in lower middle-income countries predominantly involve targeted treatment selection and diagnosis, with few incorporating advanced technologies such as gene therapy or innovative editing techniques. The WHO attributes this trend to ongoing barriers limiting access to advanced sequencing equipment and bioinformatics.

To foster health equity, the WHO urges for more investment in regional infrastructure and support for locally driven research that aligns with national health objectives. As India’s healthcare landscape evolves, with hospitals and biotech firms enhancing their genomics capabilities, the next critical step lies in developing a stronger domestic leadership role in genomic research. By transitioning from merely participating in trials to actively shaping research priorities and datasets, India could significantly enhance the public health impact of these rapidly advancing technologies.

These findings not only reflect the progress India has made in genomic research but also highlight an opportunity for the country to harness its capabilities and advance health outcomes for its population.

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