Human Genomics for Health

PAHO Regional Meeting on Human Genomics for Health:

Enhancing the Impact of Effective Research convened in Brasilia

Scientists, clinicians, and public health experts across the genomics and precision health ecosystem from 19 countries in the region of the Americas converged in Brasilia, Brazil, for the first regional meeting on Human Genomics held on the 15th and 16th of May 2024. The meeting was organized by the Pan American Health Organization (PAHO) with the support of the World Health Organization (WHO) and the Department of Science and Technology (DECIT) in the Ministry of Health in Brazil.

This meeting provided an opportunity to reach a mutual understanding and set the agenda for enhancing the impact of effective research for genomics application in the Americas. To enhance communication and encourage the exchange of experiences and ideas among participants, the meeting was held in Spanish, English, and Portuguese with simultaneous interpretation.

The objectives of the meeting were:

To raise awareness amongst Member States and regional stakeholders about the WHO Science Council report on Accelerating access to genomics for global health: promotion, implementation, collaboration, and ethical, legal, and social issues: a report of the WHO Science Council (2022).
To share experiences and best practices in the implementation of genomic evidence to improve the precision of the practice of medicine at the individual level and to inform public health strategies at a population level.
To identify challenges and feasible strategies for implementing genomics in practice and conducting genomic research in Member States.
To create opportunities for linkages and collaborations

Participants represented a broad spectrum of disciplines and contributed their expertise across relevant fields of research, including science policy, bioethics, national genomic initiatives, cancer, rare diseases and congenital disorders, and health economics. During the two-day meeting, a highly diverse group of experts shared experiences and best practices in applying genomics in clinical care and public health and conducting genomic research in the Americas.

Genomics is the study of the complete set of genes (the genome) of organisms, how genes function, interact with each other and with the environment. It deals with the characterization of all the genes of an organism, rather than the individual genes studied by genetics. Genomic knowledge and technologies bring new or improved approaches to the diagnosis, prevention and treatment of various diseases (e.g., cancers, noncommunicable and congenital diseases) and offer opportunities to achieve many global public health goals.

Regional Meeting’s Recommendations:

As was evident throughout the meeting, the rapidly evolving landscape of genomics has paved the way for exciting, innovative approaches in the field of precision health and population health. Below are suggestions to be addressed collectively and regionally.

Mapping of existing resources in the Americas, including an inventory of existing initiatives, genomics applications, policies, and guidelines.
A regional advisory committee at a regional level that will support further to develop the identified solutions and strategies.
A regional collaboration hub coordinated by PAHO to promote interaction amongst member states, institutions, and academia from the Americas.
Develop technical documents to be presented to the ministries of health of various countries seeking support for genomic research. To develop/adapt communication resources to explain to the public the value of genomics/genetics, which can be illustrated using specific examples from the region.
Adapt or develop a costing tool that will support the sustainability of medium to long term genomics research programs. Develop and share strategies to secure sustained long term financial support for the implementation of clinical and diagnostic genomic services that are independent of any political cycles within the public health systems (e.g., to create and retain capacities.)
Ethical sharing of data and samples for research: Strengthen capacities to collect, share and use genetic/genomic data and samples ethically for research. Support Member States in modifying their normative frameworks to allow ethical sharing for research as needed.
Aimed at capacity building, development of training modules that can be adapted at the country level for varied stakeholders (e.g., genetic counsellors, bioinformaticians, health care workers).

Download the detailed agenda

Speakers

Alejandro Ruiz-Patiño, MD, is a Colombian researcher and physician. His work primarily focuses on clinical oncology, precision medicine, and machine learning. He is the Medical Director of the Foundation for Clinical and Applied Cancer Research in Bogota, Colombia.

Alejandro Ruiz-Patiño

Gabriela Repetto, MD, is a professor of Genetics at Facultad de Medicina, Clinica Alemana Universidad del Desarrollo in Santiago, Chile, where she leads the Rare and Undiagnosed Diseases Program. She works as a Clinical Geneticist at Clinica Alemana de Santiago. She is a member of the Chilean Academy of Medicine, co-chair of the Global Genomic Medicine Consortium, and participates in the Technical Advisory Group on Genomics (TAG-G) of the World Health Organization.

Gabriela Repetto

Manuel Donato is the Executive Director of the National Commission for Health Technology Assessment and Clinical Excellence (CONETEC) in the Ministry of Health of Argentina. He is a Pharmacist specialist in hospitals and has a Masters in Clinical Effectiveness.

Manuel Donato

Luciene Bonan is Director of the Department of Management and Incorporation of Health Technologies (DGITS) at the Brazilian Ministry of Health, responsible for coordinating the activities of the National Commission for the Incorporation of Health Technologies (CONITEC) into the health system (SUS). Ph.D. in Oncology with an emphasis in Epidemiology from the Brazilian National Cancer Institute.

Luciene Bonan

Executive Director of the Institute for Health Technology Assessment (IETS), Colombia

Adriana Robaya

John Tisdale is a senior investigator and chief of the Cellular and Molecular Therapeutics Branch of the National Heart, Lung, and Blood Institute at NIH. Dr. Tisdale's research focuses on developing curative strategies for sickle cell disease through transplantation of allogeneic or genetically modified autologous hematopoietic stem cells. He was the Principal Investigator on the gene therapy trial of lovo-cel for SCD that was FDA approved in 2023.

John Tisdale

Sheri Schully is the deputy chief medical and scientific officer and the lead for ancillary studies in the All of Us Research Program at the National Institutes of Health (INH). Through her leadership, she is establishing ancillary studies as a core and scalable capability of the program that will expand the cohort and deliver new phenotypic, lifestyle, environmental, and biological data to the All of Us Researcher Workbench. Dr. Schully has been involved with shaping the program and setting the scientific vision and strategy since its inception.

Sheri D. Schully

Andrés Moreno Estrada is a Research Director of the Laboratory of Human Evolutionary Genomics and Populations in Mexico. He is a medical doctor (Universidad de Guadalajara, Mexico) and a population geneticist (Stanford University, USA) studying the genetic diversity of human populations across Latin America and its implications in epidemiology and public health. He is leading the Mexican Biobank project, published in 2023, getting the cover of Nature magazine. He is co-founder of the LatinGenomes consortium and co-chair of the International Common Disease Alliance (ICDA).

Andrés Moreno Estrada

Pablo Ivan Pereira Ramos is a Researcher at the Gonçalo Moniz Institute (IGM), in Salvador, Brazil. He is a biologist with a Ph.D. in Computational Modeling (Bioinformatics track),and leads interdisciplinary projects in computational biology, leveraging genomics to probe into infectious diseases, emerging and re-emerging pathogens, and the interplay between pathogens and hosts. A member of the Brazilian Association of Bioinformatics and Computational Biology (AB3C), he actively collaborates with both national and international research teams, with a keen focus on strengthening South-South cooperation. In 2014, he joined Fiocruz as a full-time researcher, and in 2023, he assumed the role of vice-coordinator at the Center for Data and Knowledge Integration for Health (CIDACS).

Pablo Ivan Pereira Ramos

Coordinator of the Latin American Network for the Implementation of Pharmacogenomic Clinical Guidelines. Faculty of Medicine, University of Chile.

Luis Quiñones Sepúlveda

Dr. Erin Ramos is the Deputy Director of the Division of Genomic Medicine at the National Human Genome Research Institute (NHGRI) within the National Institutes of Health (NIH). Dr. Ramos has expertise in data sharing and standards, genetic epidemiology, and the application of genomics to improve clinical care.

Erin M. Ramos

Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic Data Science (OGDS) at the National Human Genome Research Institute (NHGRI). She spearheads NHGRI’s scientific data sharing policy development, oversight, and implementation.

Elena M. Ghanaim

Dr. Lonel Gresh works in the laboratory response group of the Infectious Hazard Management Unit, Health Emergencies Department, PAHO, focusing on the laboratory surveillance and characterization of emerging and reemerging pathogens. He is part of the PAHO team leading the implementation of the Strategy on regional genomic surveillance for epidemic and pandemic preparedness and response. Dr. Gresh holds a PhD in Human Genetics and Molecular Biology from the Pierre et Marie Curie University / Pasteur Institute (Paris, France).

Lionel Gresh

Andrea Llera is Principal Investigator of the National Council of Scientific and Technological Research (CONICET) and Group Leader at Fundación Instituto Leloir in Buenos Aires, Argentina. She has been a leading investigator of international and local collaborative multidisciplinary projects in clinical oncology, including the Argentinian chapter of the Latin American Cancer Research Network (LACRN) and COPPA, a collaborative consortium that provides free pediatric tumor NGS sequencing and interpretation (in the context of a molecular tumor board) for patients in Argentina.

Andrea Llera

Dr. Mariela Larrandaburu, MSc, PhD, is a Medical Geneticist, Professor at the Catholic University of Uruguay, Director of the Rare Disease and Congenital Anomalies Program at the Ministry of Public Health of Uruguay, and President of the International Federation of Human Genetics Societies. She was also selected to join the WHO-TWG on the Burden of Birth Defects in 2022.

Mariela Larrandaburu

Peter Goodhand was one of the founders of the Global Alliance for Genomics and Health (GA4GH) in 2013 and is currently the CEO of GA4GH and President of GA4GH Inc. He has had senior global leadership in the for-profit and not-for-profit sectors with a focus on moving life sciences research into health practice.

Peter Goodhand

Dr. Sherry Taylor is a clinical molecular geneticist with more than 30 years of experience in the delivery of molecular genetic diagnostic testing for inherited diseases and cancer. She is also a Professor Emeritus in the Department of Medical Genetics at the University of Alberta, Canada, and a member of the WHO Technical Advisory Group on Genomics.

Sherry Taylor

Gabriela Repetto

Iscia Lopes-Cendes is a physician-scientist, professor of Medical Genetics and Genomic Medicine, and the head of the Laboratory of Molecular Genetics at the Department of Translational Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Brazil. Her research focuses on neurogenetics, specifically epilepsies, with a keen interest in the molecular mechanisms

Iscia Lopes-Cendes

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