Genomics, Health Equity, and Global Health

Posted on by Jeffery Osei, Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia; George Mensah, Center for Translation Research and Implementation Science, National Heart, Lung, Blood Institute, Bethesda, Maryland; Muin J. Khoury, Office of Genomics and Precision Public Health, Atlanta, Georgia

two hands holding the world surrounding by DNA and a crowdThe World Health Organization’s Science Council recently issued its first report on accelerating access to genomics for global health. The report makes a strong case for less-resourced countries to gain access to such technologies.

Although remarkable progress has been made in the translation of genomic discoveries into health benefits, in 2020, the World Health Organization (WHO) reminded us to prepare society for the complexities of this new field and ensure fair distribution among all countries. The use of genomics in Precision medicine (PM) and Precision public health (PPH) should be based on national and regional needs, taking into account the population structure, disease prevalence, and competing priorities. For PM to succeed, it requires a population-based approach and a focus on health equity. PPH, as discussed in our earlier blog, uses “big data” and modern technologies, including genomics, to deliver customized care to the right population at the right time.

“It is already clear that genomics can make enormous contributions to human health, from surveying populations for infectious agents, such as the virus that causes COVID-19, to predicting and treating a wide variety of diseases, such as cancers and developmental disorders. Attention to equity in deploying these technologies is essential for achieving the immense potential benefits to human health.” Harold Varmus, WHO Science Council Chair.

Ongoing efforts to establish implementation strategies for the use of genomics for both individual and population-level benefits reflect the extent to which the understanding and discoveries in this field are growing. However, making genomics affordable and accessible, and equipping regions with the needed resources, remain significant obstacles in the implementation of such efforts in some parts of the world. These obstacles are especially profound in low-resource settings.

In its new 2022 report, “Accelerating access to genomics for global health,” the WHO Science Council issued an urgent global call to accelerate access to genomics, especially in low-resource countries. We review the key aspects of this report including key recommendations on how to advance the use of genomics in all parts of the world.

Applications of genomics in precision medicine and precision public health

Since the completion of the Human Genome Project in 2003, advances in genomic research have resulted in an increasing number of evidence-based applications in disease prevention, health promotion, and clinical practice. Genomics has contributed to greater precision in the prevention, diagnosis, and treatment of many cancers, cardiovascular diseases, and other non-communicable diseases. Of note, the CDC tier 1 genomic applications include conditions and tests with significant potential for positive impact on public health. In addition, pathogen genomics has played a key role in reducing the global burden of communicable diseases including COVID-19. Pathogen genomics is now a key feature in infectious disease surveillance, prevention, and control. Through such analyses, public health experts are able to trace the spread of infections through animal and human hosts.

In the report, the Science Council added that new genomic initiatives will require enhanced laboratory capacity, access to information technology resources, and a highly skilled workforce to successfully implement genomic methods in PM and PPH. The council organized its perspectives around four broad, overlapping themes. Under each theme, recommendations based on public reports, experiences, and findings from scientific workshops are provided.

Below is a brief summary of the council’s take on ways to improve global access and use of genomics:

  1. Promotion of genomics through advocacy

Realizing the benefits of genomic discoveries and technology in clinical care and public health occurring for most western countries, the case for advocacy of such discoveries in other parts of the world is long overdue. With every new genomic discovery and intervention, there is the potential of an increase in health care disparity and inequality among countries. To bridge this inequality gap and promote early dissemination of genomic technologies across the globe, the council urges the WHO to use its leadership role to advocate for the expanded use of genomics and make access to genomic technology affordable to all member states, especially low and middle-income countries (LMICs). Medical and scientific organizations, academic institutions, commercial and non-commercial agencies are encouraged to create equal capacities and opportunities in LMICs.

  1. Implementation of genomics methodologies

According to the report, LMICs face numerous challenges including poor health care infrastructure, lack of coherent national policies, limited number of genomics scientists, high cost of equipment and reagents, and a relative lack of local capacity to plan and carry out the needed workforce training. The council encourages WHO to provide expert counsel on the best strategies for implementation of genomics at national and regional levels. Countries should also prepare themselves by identifying priority areas for implementation and introducing pilot and national programs.

  1. Collaborations among entities engaged in genomics

To fully realize the potential of genomics in PM and PPH, larger collaborations are needed. Strategic engagement of the WHO, funding agencies, industries, academia, and civil societies is needed to invigorate and accelerate all aspects of regional and national programs that advance genomics in member states, especially LMICs. Through such collaborative efforts, local and international consortia such as Human Hereditary and Health in Africa (H3Africa), Global Alliance for Genomics & Health, and Genomic Medicine Alliance have made significant strides in individual and population health. Earlier this year, the WHO launched a 10-year global pathogen genomic surveillance strategy to foster collaborations between regional and international disease control programs and surveillance networks.

  1. Attention to the ethical, legal, and social issues raised by genomics

The council urges the WHO to take a leading role in ensuring the ethical, legal, equitable use, and responsible sharing of genomic information through effective supervision, national and international rules, and standards.

Going forward

Ensuring health equity in the implementation of genomics is a public health imperative. As we push for the inclusion of more precision in both clinical care and public health across the globe, the new report makes clear that new genomic technologies should be available to all, not just a few privileged regions. The report calls for a robust roadmap for using genomic technologies to improve global health. A multi-faceted approach that fosters health equity and enhances capacity development will be crucial for this journey.

Posted on by Jeffery Osei, Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia; George Mensah, Center for Translation Research and Implementation Science, National Heart, Lung, Blood Institute, Bethesda, Maryland; Muin J. Khoury, Office of Genomics and Precision Public Health, Atlanta, GeorgiaTags ,
Page last reviewed: September 12, 2022
Page last updated: September 12, 2022