The lack of knowledge about the benefits of human genomics for public and individual health, together with the scarcity of qualified professionals and low investment, are among the challenges that countries need to overcome in order to implement equitable public policies in the area.
To address these issues, it is essential to launch initiatives that clearly communicate the potential of genomics to different audiences and involve all interested sectors. In addition, the implementation of actions based on local priorities and international best practices is another way forward. As a result, it is hoped that the use of genomics in research and clinical practice will be expanded, promoting progress in the prevention, diagnosis and treatment of various diseases.
This whole panorama is described in the first article published by the World Health Organization's (WHO) Technical Advisory Group on Genomics ( TAG-G ) in the journal Nature Medicine.
Composed of international experts and chaired by Brazilian neuroscientist Iscia Lopes-Cendes , the group's role is to draw attention to existing opportunities and experiences in the field, provide technical guidance, and recommend priority activities to accelerate access to these technologies.
Genomics is the study of the complete set of genes (the genome) of organisms, how they work, and how they interact with each other and the environment. It enables the prevention, diagnosis and even personalized treatment of diseases ranging from those considered rare to various types of cancer. It is a multidisciplinary scientific field that provides insights into areas as diverse as clinical care, food safety, and even infection control.
"The group decided to publish the article in a scientific journal to increase the knowledge and reach of the subject and our work. The WHO reports are important, but they don't always reach a large number of interested parties. We want to bring this information to decision-makers around the world, to the medical and scientific community. We try to list challenges and put forward points that can be used by governments, doctors, researchers and even society to demand the implementation of public policies," Lopes-Cendes told Agência FAPESP.
Professor at the School of Medical Sciences of the State University of Campinas (FCM-UNICAMP) in Brazil, she is also one of the leading scientists of the Brazilian Institute for Neuroscience and Neurotechnology ( BRAINN ), a FAPESP Research, Innovation and Dissemination Center ( RIDC ).
The "inheritance"
DNA is a kind of "instruction manual" present in every cell of the body, responsible for storing and transmitting genetic information inherited from parents. It influences everything from eye color to the risk of developing diseases throughout life.
Since the first draft of the human genome – with a sequence of more than 3 billion base pairs – was published in Nature in 2001, the development of genomic tools has accelerated. Advances and improvements in these technologies and genetic tests have contributed to individual health and the creation of more assertive public policies.
These are tests that analyze a person's DNA to look for mutations or alterations that can increase the risk of, or even cause, diseases. They provide important information about the patient's chances of developing certain health conditions, such as diabetes, heart disease or autoimmune disorders. This enables preventive measures and targeted treatment.
In addition, DNA analysis provides important data to signal public health trends, such as a higher propensity for certain diseases in a particular region, allowing the creation of specific programs for that area or the development of projects to address specific diseases.
However, access to these technologies is still limited, with major differences between countries and high research and implementation costs. In Brazil, genetic testing is available in the private sector, and the SUS (the Portuguese acronym for Sistema Único de Saúde, the country's national health system) is gradually implementing some policies.
The National Program for Genomics and Precision Health ( Genomas Brasil ), created in 2020, was reformulated last year with the aim of laying the foundations for the development of precision public health. In August, the Ministry of Health launched a public call for research lines in this area, with an expected investment of BRL 100 million .
Another difficulty is the lack of geneticists – while the WHO recommends 1 per 100,000 inhabitants, Brazil has 1 per 520,000. Despite having doubled in a decade, the total number of registrations of this type of professional is only 407, according to the publication "Demografia Médica no Brasil 2023" .
"There's a huge need to train specific professionals in this area. For example, if we're doing genetic testing, we need genetic counselors, a role that shouldn't depend solely on geneticist doctors, who are already in short supply. In Brazil and in several Latin American countries, this profession isn't even regulated, although we do have some professional master's degree courses," says Lopes-Cendes. In this sense, the article suggests supporting the education and training of professionals in genomics.
In the paper, the group also advocates that countries undertake communication efforts aimed at different audiences – such as governments, decision-makers, funders and society – to highlight the potential of the field and outline the relevant considerations for individual and public health. This can be done through explanatory videos, posters, brochures and infographics.
The researchers also note that investment scenarios are being developed to demonstrate the economic value of applying human genomics to health care, taking into account specific population diseases and genetic diversity. Depending on the context, these may include prenatal or neonatal screening for diseases such as thalassemia and other hemoglobinopathies, testing for hereditary cancer risk, or pharmacogenetics to promote optimal use of therapeutics and reduce adverse effects.
Its origins
The TAG-G was established in September 2023 to provide the WHO with technical advice on genomics and to support work to accelerate access to knowledge and these technologies, particularly in low- and middle-income countries. The mandate is for two years.
Last May, the Pan American Health Organization (PAHO) held a regional meeting with the participation of TAG-G members as a first step in promoting the implementation of genomics in clinical medicine, public health, and strengthening of research in the Americas.
"Meetings of this kind are important in the effort to promote collaboration between countries and regions, which have specific needs and demands. We have a mandate in the TAG-G for another year, which can be extended for the same group of researchers or new members. We'll continue to make progress in developing these guidelines," adds the TAG-G president.
About FAPESP
The São Paulo Research Foundation (FAPESP) is a public institution with the mission of supporting scientific research in all fields of knowledge by awarding scholarships, fellowships and grants to investigators linked with higher education and research institutions in the state of São Paulo, Brazil. FAPESP is aware that the very best research can only be done by working with the best researchers internationally. Therefore, it has established partnerships with funding agencies, higher education, private companies, and research organizations in other countries known for the quality of their research and has been encouraging scientists funded by its grants to further develop their international collaboration.
