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In November 2024, RARE Revolution hosted a RARE Rev-inar, sponsored by Illumina and the Americas Health Foundation (AHF), to explore the opportunities and challenges of advancing genomic medicine in Latin America. The session featured the experiences of healthcare professionals and industry experts from across the region

The Americas Health Foundation (AHF) are an independent organisation dedicated to fostering policy-driven initiatives that bring stakeholders together to increase access to healthcare across Latin America. The foundation has been working in the region for over 15 years. Mariana Rico, the vice president of the AHF, believes that advancing genomic medicine in Latin America is essential for improving health outcomes and that it is possible to overcome certain barriers and economic constraints that exist. She explains “the impact of this technology cannot be overstated, from advancing personalised medicine to enabling earlier diagnosis and targeted treatment of diseases, the benefits of genomics are substantial and far reaching.”

The WHO (World Health Organization) Science Council report provides high-level recommendations and underscores the strategic importance of advancing genomics as a global health priority. Dr Andreas Moreno-Estrada sees the report as unprecedented as it is the first of its kind, from a global organisation, dedicated to the topic of genomics. He says it highlights the importance of being prepared for future global events—such as pandemics, the role of genomics in tailoring health measures to specific genetic profiles and of having national databases to respond effectively to future health crises. As he explains, “genomics proved to be vital in the pandemic, having national databases about genetic profiles of a whole country is incredibly useful when you want to immediately deploy measures that can be tailored towards a specific genetic profile.”

Dr Moreno-Estrada believes that leveraging the credibility and might of large global health organisations like the WHO, combined with targeted regional meetings by groups such as the Pan American Health Organization (PAHO), alongside direct outreach to local governments, will be essential in raising awareness and driving the adoption of the report’s recommendations across Latin America. He sees this as vital in making genomics a true priority in the region.

To advance genomic medicine in Latin America, there are certain implementation challenges that need to be addressed and overcome. Dr Luis Quiñones believes that the focus should be on expanding both the physical infrastructure as well as the human resource capabilities. He says that while some progress has been made, there is still significant and relevant gaps in comparison to Europe and the United States that need to be addressed. He highlights the need for additional and improved genome sequencing platforms, access to bioinformatics infrastructure, the creation of regional genomic data repositories and biobanks, as well as certified genetic testing and diagnostic laboratories. He emphasises the need for specialised training programmes for biomedical professionals, including genetic counselors, to build the necessary expertise in areas like genomics and pharmacogenomics.

While some essential infrastructure has been developed, particularly in response to the COVID-19 pandemic, considerable improvement is still needed across the region. Dr Quiñones suggests that Brazil currently leads the way in genomic research followed by countries like Colombia, Mexico, Chile, Argentina, and Uruguay.

Dr Quiñones highlights that given the complexity of precision medicine, the integration and coordination of various professionals, including researchers, geneticists, primary care physicians, genetic counselors, and pharmacists, is vital to ensure patients receive a precise diagnosis and personalised treatment. “This is particularly important in my field of pharmacogenomics, where pharmacology, genomics, medicine and bioinformatics must interact, and ensure that genomic tests are being integrated into treatment plans to align genomic testing with the clinical treatments protocols” says Dr Quiñones. He sees funding as a key challenge with the coordination of genomic initiatives differing across the countries of Latin America. He says the training and upskilling of healthcare professionals to interpret genomic data and improving access to genomic testing, such as whole exome or whole genome sequencing, is often restricted to centres in large urban cities.

In regard to implementing HTA (health technology assessment) processes, Dr Adriana Robayo emphasises the importance of critical effectiveness evaluations when it comes to assessing different genomic technologies. This includes evaluating factors like efficacy, safety, cost-effectiveness, ethical considerations, legal implications and environmental impact. She highlights that ethical considerations could be a challenge in Latin America where access is concerned. She explains, “In this region, the people who have access are usually those who have more money and greater advantages and live in the cities. The people who live in more rural areas with a lower socioeconomic status, don’t have the same access.” Therefore, while the HTA process could be crucial for evaluating the suitability of adopting genomic technologies in Latin America, it would need to account for the disparities in access across different populations of the region.

Dr Lygia Pereira highlights the need for biobanks to understand the genetic basis of common diseases in non-European populations and to reflect the diversity of Latin America.  She expands, “Although we collectively call ourselves Latin America, our populations vary a lot from country to country, and we need [biobanks] in order to find and develop polygenic risk scores that are precise for our population, because most of what we have now is based on the genomes of populations of European ancestries.”

Addressing the challenges of funding and equitable access requires leveraging existing regional collaborations, as highlighted in the PAHO report on Human Genomics for Health: Enhancing the Impact of Effective Research. The report emphasises the importance of sustainable, long-term funding to support infrastructure, biobanks, and genomic services, especially in low- and middle-income countries (LMICs). It also recommends interstate collaborations and data-sharing to overcome resource constraints, particularly in small or remote populations. Building partnerships between governments, NGOs (non-governmental organisations) and private entities is noted as a viable strategy to secure consistent resources and improve affordability through consortium purchasing. Ensuring equity in access remains critical, with special attention to vulnerable and underserved communities.

These challenges and proposed solutions are exemplified by the DNA do Brasil project. In 2019 the DNA do Brasil project was launched with the goal of including the Brazilian population in precision medicine. The project aimed to start building the necessary infrastructure for genomic data collection and discovery. It was built upon an earlier initiative called the Brazilian Initiative for Precision Medicine, which had struggled to secure funding to generate new genomic data. Instead, the DNA do Brasil project leveraged existing cohort studies in Brazil that had already collected health data—a more cost-effective way of collecting health and genomic data than starting from scratch. Dr Pereira acknowledges that one of the key challenges has been harmonising all the different health data that was collected in varying ways by the different research groups, and analysing the combined dataset has been difficult due to the lack of standardisation. She believes there is potential to leverage Brazil’s public health system to create a biobank model similar to the UK biobank, which would require significant political and community engagement.

To ensure the success of genomic medicine programmes in Latin America, Dr Quiñones believes key questions around funding, policy, ethics and community engagement need addressing, whilst considering the needs that are particular to that region. He feels strategies are needed to address gaps in technology, and laboratory facilities, and the importance of integrating genomic data into routine clinical workflows.

Dr Moreno-Estrada supports this and expands further by stressing the importance of local leadership and the need to work with international partners while maintaining local capacity and infrastructure. “We need to build bonds and bridges with international partners, to help convince local governments to support local projects. We need to join forces internationally but keep leadership locally, because otherwise the benefits will go elsewhere and we’ll lose the opportunity of strengthening our local capacity.”

Dr Moreno-Estrada highlights the advantage of leveraging existing networks and platforms such as the TRALAC (Latin American Human Genetics Network) which connects human genetics societies from all over Latin America. “I think leveraging those networks that already have stakeholders and researchers with knowledge of the local communities is a way to join forces on a bigger scale.”

Dr Quiñones spotlights organisations like SOLFAGEM (Latin American Society of Pharmacogenomics and Personalized Medicine) and RELIF (Latin American Network for Implementation and Validation of Pharmacogenomic Clinical Guidelines) that are working to provide frameworks and data to advance genomic and pharmacogenomic medicine. He also suggests developing pilot projects to demonstrate the cost-effectiveness of genomic medicine and pharmacogenomic tools in the Latin American context, to help secure funding from national governments.

Economic evaluation – Dr Robayo emphasises the importance of robust HTA processes to evaluate genomic technologies in Latin America. She notes that a lack of trained personnel, particularly bioinformaticians, to properly conduct the complex modeling and analysis required can be a challenge. She stresses that in addition to standard HTA methods, the region must focus on building specialised technical expertise to enable effective assessments that can inform healthcare decision-making around adopting genomic innovations.

Pharmacogenomics – Dr Quiñones outlines the need to establish specialised training programmes in precision medicine and pharmacogenomics for clinicians; develop national and regional genomic guidelines aligned with global standards; create a Latin American genomic and pharmacogenomic database to support research; and request governments to allocate dedicated funding for genomic research initiatives, potentially through a new PAHO programme.

Research and multi-disciplinary – Dr Moreno-Estrada stresses the importance of increasing accessibility to existing genomic data resources, rather than just focusing on building new infrastructure. He highlights the Mexican Biobank project as an example; a user-friendly web platform allowing clinicians, researchers, and students to easily explore the frequency of genetic variants in the Mexican population. He emphasises the need to ensure local leadership and ownership of these genomic initiatives, while also leveraging international collaborations, to build sustainable regional capacity and expertise.

The AHF highlights the pressing need to address funding gaps, promote equity, and expand access to genomic testing across Latin America. To complement the valuable insights shared during this event, AHF proposes the following additional strategies:

Equity and accessibility

• Mobile genomic testing units and telemedicine: Introduce mobile units and telemedicine services to bridge the gap in access for rural and marginalised populations.
• Subsidised testing for vulnerable groups: Establish targeted funding mechanisms to subsidise the cost of essential genomic tests, ensuring affordability for low-income families.

Sustainable funding models

• Regional genomic fund: Collaborate with international organisations and public-private partnerships to create a sustainable fund supporting genomic research, infrastructure, and equitable access initiatives.
• Consortium purchasing: Advocate for collective purchasing agreements across the region to reduce costs for reagents, equipment, and maintenance.

Strategic policy development

• National genomic policies: Encourage Member States to adopt policies prioritising genomic medicine in their health agendas, with a focus on equitable service delivery for vulnerable populations.
• Regional genomics hub: Support the establishment of a regional genomics hub to foster collaboration in training, infrastructure sharing, and implementing genomic services.

These recommendations build on the discussions and align with the key takeaways from the PAHO report. AHF is committed to working with regional stakeholders to ensure these strategies are implemented effectively.

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