The WHO genomics program of work for equitable implementation of human genomics for global health

This correspondence outlines the World Health Organization’s (WHO) program to promote equitable implementation of human genomics for global health. Following the post–Human Genome Project era of high-throughput sequencing, millions of genomes have been sequenced, enabling diagnosis, prognosis, management, risk prediction, and prevention. However, adoption and access to genomic technologies are inconsistent—particularly in low- and middle-income countries—due to resource constraints, limited workforce capacity, and underrepresentation of many populations in genomic datasets. Recognizing these disparities, the WHO Science Council proposed a roadmap emphasizing promotion, implementation, collaboration, and ethical, legal and social issues (ELSI). WHO has since launched a program to advocate investment, coordinate stakeholders, address implementation barriers, and improve equitable access to genomic services.

The correspondence references foundational and contemporary literature underscoring the maturation of genomics and its uneven global adoption, including the Human Genome Project draft sequence (Lander et al., 2001), discussions of clinical genomics utility and implementation (e.g., Bamshad 2019; Manolio et al., 2015), and recent advances (Chen et al., 2024). It highlights evidence of Eurocentric bias and underrepresentation in genomic studies (Fatumo et al., 2022; Pereira et al., 2021), supporting the need for equity-focused policies and implementation frameworks. Additional pieces discuss global adoption challenges and opportunities for genomics (Abou Tayoun, 2023; Abou Tayoun & Alsheikh-Ali, 2023).

This is a policy and programmatic correspondence rather than an empirical study. Key points and planned actions include: - WHO Technical Advisory Group on Genomics (TAG-G): Established to guide actions, set priorities, and monitor progress across regions and practice contexts. - Communication and advocacy: Tailored materials (videos, posters, leaflets, infographics) to convey clinical, public health, scientific, and economic benefits of genomics to governments, funders, decision-makers, and the public, aiming to build trust. - Investment cases: Development of regional investment scenarios considering disease burdens, genetic diversity, and health-system capacity. Example use cases include targeted prenatal/newborn screening (thalassemia, hemoglobinopathies), reproductive/preconception carrier screening (recessive/X-linked disorders), inherited cancer risk testing, and pharmacogenomics to optimize therapeutics and reduce adverse events. - Collaboration mapping and alignment: Connecting international and national organizations to map expertise, align ongoing efforts, prevent duplication, and foster a community of practice. Joint convenings, training programs, and integration of genomics and genetic counselling into health professional education are emphasized. - Workforce education and training: Progress noted with WHO facilitating connections among initiatives and promoting pedagogical research and curriculum integration. - Addressing supply-chain and access barriers: Many LMICs lack direct access to major providers of equipment, reagents, and analytical tools, leading to higher costs and weaker support. WHO will explore private-sector engagement and practical plans to improve global affordability and accessibility, including computational infrastructure. - Regional consultations: WHO will organize regionally tailored consultations with member states, local experts, and TAG-G members to ground implementation in local priorities and build foundations for future initiatives. - Data access, use, and sharing principles: WHO is developing global principles to ensure ethical, legal, and equitable governance of genomic data across its lifecycle, complementing local regulations and promoting trust and stewardship. - Equity roadmap: TAG-G prioritizes equity through equitable research partnerships, workforce diversity, inclusive representation in genomic studies, and ensuring accessibility and appropriateness of applications for all populations. - Table 1 synthesis: • Challenges: Limited awareness; fragmented collaboration; constrained financial/technological resources and workforce; inconsistent equity/ethics/governance frameworks; limited impact evaluation tools; missing implementation guidance. • Actions: Communicate benefits; advocate for investment; map gaps/opportunities; provide guidance based on best practices and local priorities; engage stakeholders across sectors/regions; build a community of practice; support workforce training; guide data access/use/sharing; guide equitable research and practice; foster alignment among stakeholders. • Outcomes: Increased guidance and technical support; expanded availability of genomic knowledge, technologies, and expertise in research and clinical settings; more equitable access and use. • Impact: Enhanced research and understanding of genetic variation across diverse populations; accessible genome-based technologies for prevention, diagnosis, and management in varied settings; improved individual and population health globally.

The WHO program directly targets the gap between scientific advances in genomics and their uneven global implementation. By coordinating stakeholders, promoting evidence-based investment, strengthening training and education, addressing supply and infrastructure barriers, and developing ethical and equitable data-governance principles, the initiative aims to accelerate responsible integration of genomics into health systems worldwide. Emphasis on regional consultations and equity-focused partnerships is intended to ensure context-appropriate adoption, improved representation in genomic research, and ultimately reductions in health inequities.

WHO presents a coordinated, equity-centered program to advance the implementation of human genomics for global health, supported by a technical advisory group, communication and investment strategies, collaborative mapping, workforce development, supply-chain solutions, regional consultations, and data-governance principles. Continued progress will depend on political commitment, community engagement, and sustainable financing at international, national, and local levels. Future directions include finalizing and disseminating global principles for genomic data governance, operationalizing the equity roadmap, expanding training and community-of-practice efforts, and evaluating impact across regions.