Genomics: Revolutionizing healthcare through complete genetic understanding
Genomics: Complete genome study transforms disease diagnosis and treatment
Seven-year-old Maya had been sick her entire life. Mysterious infections landed her in hospital repeatedly. Dozens of tests revealed nothing. Doctors were baffled—standard treatments didn’t work, and no one could explain why her immune system failed to fight even common bacteria.
Then her parents heard about a new genetics clinic offering whole genome sequencing—a complete map of all Maya’s genes. Within weeks, the answer emerged: a rare mutation in a single gene disrupting her immune system. Armed with this precise diagnosis, doctors prescribed targeted immunotherapy. Maya’s infections stopped. For the first time in her life, she could go to school, play with friends, live normally.
“It’s like they finally found the instruction manual that explained how her body works,” Maya’s mother said, tears streaming down her face. “Genomics gave us our daughter back.”
According to WHO’s work on genomics, genomics is the study of the complete set of genes (the genome) of organisms, of the way genes work, interact with each other and with the environment. Genomics incorporates elements of genetics, but is concerned with the characterization of all genes of an organism, rather than individual genes. The field is multidisciplinary, and uses a combination of laboratory and bioinformatic techniques to investigate genomes’ structure, function, how they have evolved and how they can be edited.
For more on genetic advances, see our articles on precision medicine and medical breakthroughs at ObserverVoice.com.
From the Human Genome to Revolutionary Breakthroughs
Landmark achievements in the early 2000s, culminating with the publication of the first reference human genome, have transformed scientific discovery of diseases and launched a powerful era in genetic medicine. Recent breakthroughs include advances in the field of pharmacogenomics, where genomic information is used to study individual responses to drugs and enable the development of targeted therapies; the publication of the first human ‘pangenome’, representing the genetic diversity of the species; and the development of genome editing approaches, including by CRISPR/Cas9 technology.
Collectively, these innovations have reshaped the understanding of the genetic basis of complex diseases, of genotype–phenotype relationships, the way health information is generated and how knowledge is translated in novel medicine and public health practice.
WHO’s infographic on how our differences benefit us all illustrates the importance of genetic diversity in advancing healthcare. WHO also published infographics on a world of healthcare possibilities, a tale of advancing healthcare, and supporting health throughout our lives.
Dr. Jennifer Zhang, a genomics researcher who witnessed the field’s transformation over three decades, explained: “When I started, sequencing a single gene took months and cost thousands of dollars. Today, we can sequence an entire human genome in hours for a few hundred dollars. The speed and scale of progress is breathtaking.”
For more on scientific advances, see our articles on biotechnology at ObserverVoice.com.
Wide-Ranging Health Applications
Genomics is evolving rapidly, and its potential impact for the future of human health cannot yet be known. Human genomics knowledge and technologies provide new ways to prevent and manage many diseases, and opportunities to achieve global public health goals.
Genomic knowledge of other organisms contributes to the understanding of human health and diseases, the interconnectedness across species, and is thus a vital component of the One Health approach.
Some applications of genomics include medical applications in risk assessment, diagnosis, treatment selection, disease monitoring and drug development; applications of pathogen genomics in the identification of etiological agents, surveillance of infections and investigation of their transmission within communities; and animal and plant genomics applications to catalogue genetic biodiversity, identify phenotypic and functional genetic traits, and select and engineer specific traits.
WHO published Global genomic surveillance strategy for pathogens with pandemic and epidemic potential, 2022–2032 in March 2022, providing a high-level unifying framework. WHO released considerations for developing a national genomic surveillance strategy or action plan in August 2023. In December 2023, WHO published progress report on the first year of implementation of the global strategy.
WHO developed guiding principles for pathogen genome data sharing in November 2022, emphasizing that sharing of pathogen genome data is critical for preventing, detecting, and responding to infectious disease outbreaks.
The COVID-19 pandemic demonstrated genomics’ power. Scientists tracked SARS-CoV-2 variants in real-time, identifying mutations that made the virus more transmissible or resistant to vaccines. This genomic surveillance helped public health officials make informed decisions about containment measures and vaccine updates.
For more on pandemic preparedness, see our articles on infectious disease surveillance at ObserverVoice.com.
The Equity Challenge
Compared to high-income countries, low- and middle-income countries are often disproportionately disadvantaged in the advancement of, and access to, genomics technologies and their applications.
In December 2025, WHO published new global analysis revealing major equity gaps in human genomics research. WHO released Human genomics technologies in clinical studies – the research landscape: report on the 1990-2024 period in December 2025, documenting these disparities.
Dr. Amara Okafor, who runs a genetics clinic in Lagos, Nigeria, described the challenge: “We see patients with rare genetic diseases, but we can’t afford the sequencing. Families mortgage their homes to send samples abroad. By the time results come back, it’s often too late. The genomics revolution is passing us by.”
This inequality isn’t just unfair—it’s scientifically problematic. Most genomic research has focused on European populations, meaning genetic variants common in African, Asian, or Indigenous populations remain understudied. This leads to less effective treatments for non-European populations.
WHO’s Four-Pillar Strategy
WHO is implementing a programme of activities to promote equitable and fair access to genomics technologies for the benefit of people worldwide. Following recommended actions identified by the WHO Science Council in its report Accelerating access to genomics for global health: promotion, implementation, collaboration, and ethical, legal, and social issues published in July 2022, the programme of work is articulated across four themes:
Promotion: Advocacy is needed to persuade governments, commercial and non-commercial organizations, academic institutions, and others, of the medical, scientific, and economic benefits of genomic technologies and to promote affordable access to genomic technologies globally.
Implementation: Overcoming obstacles to implementation will require local planning, financing, training of essential personnel, and the affordable provision of instruments, materials, and computational infrastructure.
Collaboration: Government ministries, funding agencies, healthcare and scientific organizations in academia and industry should collaborate to establish plans on how to use genomics, build and expand technical capacity, if appropriate through regional programmes.
Ethical, legal and social issues: Effective oversight—coupled with national and international rules and standards—is key to promoting ethical, legal, equitable use and responsible sharing of information obtained with genomic methods.
In November 2024, WHO released new principles for ethical human genomic data collection and sharing. WHO published Guidance for human genome data collection, access, use and sharing in November 2024, emphasizing that the ethical, legal, and equitable sharing of human genomic data is critical to advancing global health research.
WHO established the Technical Advisory Group on Genomics (TAG-G) to provide expert guidance. The first meeting occurred in October 2023. WHO held a consultation on WHO principles for human genome data access and sharing in March 2024. In February 2025, WHO convened an event on WHO’s principles for human genome data collection, access, use, and sharing: shaping ethical and inclusive genomics.
WHO’s Research for Health division coordinates genomics work. WHO published The WHO genomics program of work for equitable implementation of human genomics for global health detailing its comprehensive approach.
Maya’s story has inspired others. Her parents now advocate for expanded access to genomic testing. “Every child deserves what Maya got,” her father said. “Genomics shouldn’t be a luxury for the wealthy. It should be part of basic healthcare—everywhere.”
With WHO’s comprehensive approach to genomics, the promise of genomic medicine can reach everyone, everywhere—ensuring that revolutionary technologies benefit all of humanity, not just the privileged few.
For more information, visit WHO’s genomics health topic page or explore related content at ObserverVoice.com.
Frequently Asked Questions (FAQs)
According to WHO’s work on genomics, genomics is the study of the complete set of genes (the genome) of organisms, of the way genes work, interact with each other and with the environment. Genomics incorporates elements of genetics, but is concerned with the characterization of all genes of an organism, rather than individual genes. The field is multidisciplinary, and uses a combination of laboratory and bioinformatic techniques to investigate genomes’ structure, function, how they have evolved and how they can be edited. Landmark achievements in the early 2000s, culminating with the publication of the first reference human genome, have transformed scientific discovery of diseases and launched a powerful era in genetic medicine. Recent breakthroughs include advances in pharmacogenomics where genomic information is used to study individual responses to drugs and enable development of targeted therapies; publication of the first human ‘pangenome’ representing genetic diversity of the species; and development of genome editing approaches including by CRISPR/Cas9 technology. These innovations have reshaped understanding of the genetic basis of complex diseases, genotype–phenotype relationships, the way health information is generated and how knowledge is translated in novel medicine and public health practice. WHO’s infographic on how our differences benefit us all illustrates genetic diversity importance. See our articles on genetics.
Genomics is evolving rapidly, and its potential impact for the future of human health cannot yet be known. Human genomics knowledge and technologies provide new ways to prevent and manage many diseases, and opportunities to achieve global public health goals. Genomic knowledge of other organisms contributes to understanding human health and diseases, the interconnectedness across species, and is thus a vital component of One Health approach. Some applications of genomics include medical applications in risk assessment, diagnosis, treatment selection, disease monitoring and drug development; applications of pathogen genomics in identification of etiological agents, surveillance of infections and investigation of their transmission within communities; animal and plant genomics applications to catalogue genetic biodiversity, identify phenotypic and functional genetic traits, and select and engineer specific traits. WHO published Global genomic surveillance strategy for pathogens 2022–2032 March 2022. WHO released considerations for developing national genomic surveillance strategy August 2023 and progress report on first year implementation December 2023. WHO’s infographics on a world of healthcare possibilities, a tale of advancing healthcare, and supporting health throughout our lives illustrate applications. See our articles on precision medicine.
Compared to high-income countries, low- and middle-income countries are often disproportionately disadvantaged in the advancement of, and access to, genomics technologies and their applications. In December 2025, WHO published new global analysis revealing major equity gaps in human genomics research. WHO released Human genomics technologies in clinical studies – the research landscape: 1990-2024 period report December 2025 documenting disparities. Most genomic research has focused on European populations, meaning genetic variants common in African, Asian, or Indigenous populations remain understudied, leading to less effective treatments for non-European populations. This inequality affects both access to genomic technologies and representation in research databases. WHO is implementing a programme of activities to promote equitable and fair access to genomics technologies for benefit of people worldwide. WHO Science Council report Accelerating access to genomics for global health July 2022 identified recommended actions. WHO published The WHO genomics program of work for equitable implementation detailing comprehensive approach. See our articles on health equity.
WHO’s programme of work following WHO Science Council report Accelerating access to genomics for global health July 2022 is articulated across four themes: Promotion (advocacy to persuade governments, organizations, institutions of medical, scientific, economic benefits and promote affordable access); Implementation (overcoming obstacles through local planning, financing, training, affordable provision of instruments, materials, computational infrastructure); Collaboration (government ministries, funding agencies, healthcare and scientific organizations should collaborate to establish plans on using genomics, build and expand technical capacity through regional programmes); Ethical, legal and social issues (effective oversight with national and international rules and standards for ethical, legal, equitable use and responsible sharing of information). In November 2024, WHO released new principles for ethical human genomic data collection and sharing. WHO published Guidance for human genome data collection, access, use and sharing November 2024. WHO developed guiding principles for pathogen genome data sharing November 2022. WHO established Technical Advisory Group on Genomics (TAG-G) with first meeting October 2023. WHO’s Research for Health division coordinates work. See our articles on bioethics.
WHO developed comprehensive frameworks for genomic surveillance of pathogens. Applications of pathogen genomics include identification of etiological agents, surveillance of infections and investigation of their transmission within communities. WHO published Global genomic surveillance strategy for pathogens with pandemic and epidemic potential, 2022–2032 March 2022, providing high-level unifying framework to leverage existing capacities, address barriers and strengthen use of genomic surveillance data. WHO released considerations for developing national genomic surveillance strategy or action plan August 2023 as step by step guide for countries. In December 2023, WHO published progress report on first year of implementation. WHO held consultation on Global Genomic Surveillance Strategy December 2021 to exchange information and ideas. WHO developed guiding principles for pathogen genome data sharing November 2022, emphasizing that sharing pathogen genome data is critical for preventing, detecting, responding to infectious disease outbreaks. COVID-19 pandemic demonstrated genomics’ power, with scientists tracking SARS-CoV-2 variants in real-time, identifying mutations that made virus more transmissible or resistant to vaccines. See our articles on pandemic preparedness.
- WHO Genomics Health Topic
- News: WHO Publishes Analysis on Equity Gaps in Genomics Research (Dec 2025)
- News: WHO Releases Principles for Ethical Data Collection (Nov 2024)
- Publication: Human Genomics Technologies in Clinical Studies 1990-2024 (Dec 2025)
- Publication: Guidance for Human Genome Data Collection, Access, Use and Sharing (Nov 2024)
Disclaimer: This article is an adaptation of publicly available information from WHO’s Genomics
health topic page (WHO, Geneva. Licence: CC BYNC-SA 3.0 IGO). WHO is not responsible for the
content or accuracy of this adaptation. This content is for informational and educational purposes
only and does not constitute medical advice. ObserverVoice.com is a news and information platform
— not a healthcare provider.
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