Article from Agência FAPESP interviews researcher from CEPID BRAINN and details the need for awareness, professional training, and investment in genomics.

Article originally published on Agência FAPESP

 

Expanding genomics in public policy requires greater awareness, professional training, and investment

Luciana Constantino | Agência FAPESP – The lack of knowledge about the benefits of human genomics for public and individual health, combined with a shortage of qualified professionals and low investment, is among the challenges countries must overcome to implement equitable public policies in the field.
To tackle these issues, it is essential to launch initiatives that clearly communicate genomics’ potential to different audiences, involving all relevant stakeholders. Additionally, implementing actions based on local priorities and international best practices is a pathway to pursue. The goal is to broaden the use of genomics in research and clinical practice, advancing the prevention, diagnosis, and treatment of various diseases.

This overview is detailed in the first article published by the Technical Advisory Group on Genomics (TAG-G) of the World Health Organization (WHO) in the journal Nature Medicine.

 

READ THE ARTICLE

Ambrosino, E., Abou Tayoun, A.N., Abramowicz, M. et al. The WHO genomics program of work for equitable implementation of human genomics for global health. Nat Med 30, 2711–2713 (2024). https://doi.org/10.1038/s41591-024-03225-x

 

Composed of international experts and chaired by Brazilian neuroscientist Iscia Lopes-Cendes, the group’s role includes highlighting opportunities and existing experiences in the field, providing technical guidance, and recommending priority activities to accelerate access to these technologies.

Genomics is the study of the complete set of genes (the genome) of organisms, how they function, and how they interact with each other and the environment. This knowledge enables disease prevention, diagnosis, and even personalized treatment for conditions ranging from rare diseases to various types of cancer. It is a multidisciplinary scientific field offering insights into areas like clinical care, food safety, and infection control.

“The group decided to publish the article in a scientific journal to raise awareness and broaden the reach of the subject and our work. WHO reports are important but don’t always reach a large audience. We aim to provide this information to decision-makers worldwide, as well as the medical and scientific communities. We want to list challenges and propose actionable points that governments, physicians, researchers, and even society can use to advocate for public policy implementation,” Lopes-Cendes told Agência FAPESP.

A professor at the Faculty of Medical Sciences at the University of Campinas (FCM-Unicamp), she is also one of the leading scientists at the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), a Research, Innovation, and Dissemination Center (CEPID) supported by FAPESP and based at Unicamp.

 

The ‘inheritance’

DNA acts as 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 over a lifetime.
The publication of the first draft of the human genome in Nature in 2001 – containing a sequence of more than 3 billion base pairs – accelerated the development of genomic tools. Advances and improvements in these technologies and genetic tests have contributed to individual health and the creation of more precise public policies.

These tests analyze a person’s DNA to identify mutations or alterations that may increase disease risks or even cause them. They provide critical insights into the likelihood of developing conditions like diabetes, heart disease, or autoimmune disorders, allowing for preventive and targeted treatments.

DNA analyses also reveal public health trends, such as a region’s higher propensity for certain diseases, enabling the creation of specific programs or projects to address these health challenges.

However, access to these technologies remains limited, with significant disparities between countries and high research and implementation costs. In Brazil, genetic tests are available in private networks, and the public health system (SUS) is gradually implementing certain initiatives.

The National Genomics and Precision Health Program (Genomas Brasil), launched in 2020, was revamped last year to establish the foundation for developing public precision health. In August, the Ministry of Health issued a public call for research lines in the field, with an investment of R$ 100 million.

Another challenge is the shortage of geneticists. While WHO recommends one geneticist for every 100,000 inhabitants, Brazil has one for every 520,000 people. Despite doubling in a decade, only 407 professionals are registered, according to the publication Demografia Médica no Brasil 2023.

“There is a significant demand for specialized professional training in this field. For instance, conducting genetic tests requires genetic counselors, a role that cannot solely rely on geneticists, who are already scarce. In Brazil and several Latin American countries, this profession is not even regulated, although there are some professional master’s courses,” Lopes-Cendes says. In this context, the article advocates for supporting education and training in genomics.

The group also recommends communication efforts targeting multiple audiences – such as governments, decision-makers, funders, and society – to emphasize the potential of the field and outline relevant considerations for individual and public health. These efforts can include videos, posters, brochures, and infographics.

Researchers further highlight that to build evidence on the economic value of human genomics in healthcare, investment scenarios are being developed, considering specific diseases and genetic diversity. Depending on the context, cases might include prenatal or neonatal screening for diseases like thalassemia, tests for hereditary cancer risk, or pharmacogenomics to optimize therapies and reduce adverse effects.

 

The origin of TAG-G

TAG-G was established in September 2023 to provide WHO with technical advice on genomics and support efforts to accelerate access to genomic technologies, particularly in low- and middle-income countries. The mandate lasts for two years.
In May 2024, the Pan American Health Organization (PAHO) held a regional meeting as a first step to promote the implementation of genomics in clinical medicine, public health, and research strengthening in the Americas, with TAG-G members participating.

“Such meetings are vital for fostering collaboration among countries and regions with specific needs and demands. Our TAG-G mandate continues for another year and may be extended for the same group or new members. We will keep advancing these guidelines,” concludes the TAG-G chair.

The article The WHO genomics program of work for equitable implementation of human genomics for global health can be read at: https://www.nature.com/articles/s41591-024-03225-x.