Knowledge portal on human genomics for health

PAHOHumanGen is the knowledge portal on human genomics for health, created in 2025 by the Unit on Science and Knowledge for Impact (SK) of the Evidence and Intelligence for Action in Health Department (EIH) of the Pan American Health Organization (PAHO) to promote the development of a regional network in human genomics and its applications for health in the Americas.

Aligned with the objectives of the 2022 WHO Scientific Council Report to accelerate the use of genomics for population health, this portal fosters the development of technical capacities in Member States and regional collaborations, in line with the resolutions of the World Health Assembly (WHA): WHA 57/16 and WHA 63/10.

PAHOHumanGen is also part of PAHO Genomic Surveillance Regional Networks (PAHOGen).

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Human genomics for health

Human genomics is the study of the complete set of genes in a human being, including how they interact with each other and with the environment. It incorporates elements of genetics but, instead of focusing on individual genes, human genomics is concerned with the characterization of all the genes in a human.

Genomics is evolving rapidly: its impact on human health is already significant and holds untapped potential. Genomics contributes to public health by enabling the prevention, diagnosis, and management of diseases. It helps us understand the genetic basis of diseases and develop targeted treatments.

Applications of human genomics

Established applications:

Risk Assessment: Carrier detection, prenatal, neonatal, and childhood screening.
Treatment Selection: Use of pharmacogenomics to optimize therapies and reduce adverse effects.
Diagnosis: Identification of rare and common diseases of monogenic origin (influenced by a single gene).
Treatment: Management of genetic disorders through gene editing and gene therapy.

Potential applications:

Risk Assessment: Adult screening for disease predisposition.
Prognosis and Monitoring: Enhanced tracking and prediction of disease progression.
Diagnosis: Detection of diseases of polygenic origin (influenced by multiple genes).

Relevant links

PAHO Genomic Surveillance Regional Networks (PAHOGen)

WHO/Genomics

PAHO's Regional Meeting-Human Genomics for Health

WHO/Technical Advisory Group on Genomics (TAG-G)

Publications

Guidance for human genome data collection, access, use and sharing (WHO, 2024)

Human genomics for health: Enhancing the impact of effective research. Report of the first regional meeting for the Americas (PAHO, 2024)

WHO Technical Advisory Group on Genomics (‎TAG-G)‎: report of the second meeting held virtually (WHO, 2024)

WHO Technical Advisory Group on Genomics (‎TAG-G)‎: report of the first meeting (WHO, 2023)

Accelerating access to genomics for global health: promotion, implementation, collaboration, and ethical, legal, and social issues: a report of the WHO Science Council (WHO, 2022)

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Highlights

Event

Webinar: Genomics in public health: Technology assessment (March 31, 2025)

News

Meeting to Advance Human Genomics for Health in the Americas

Infographics

The story of genomics. How our differences benefit us all (WHO, 2024)

Webinars/PAHO

Genomics in public health: Technology assessment (March 31, 2025)

Research and regional collaboration on oncology and personalized medicine (Feb. 6, 2025)
Enhancing the impact of the effective research on rare diseases and congenital disorders (Dec.13, 2024)
Human genomics for health: Enhancing the impact of effective research (May 15, 2024)
Genomic epidemiology webinar series. Session 1: Introduction to genomic epidemiology - Part 1 (Oct. 29, 2021)
Genomic epidemiology webinar series. Session 2: Operation and integration of genomic data into national surveillance (Oct. 29, 2021)
Human genome editing: A framework for governance and recommendations (Sep. 17, 2021)

Video series on genomics/WHO

The Story of Genomics

PAHO/WHO communication materials

Infographics

WHO series

Tools

Birth Defects Surveillance Toolkit- WHO, the Centers for Disease Control and Prevention, the International Clearinghouse for Birth Defects Surveillance and Research, and the March of Dimes

Videos

Video series on genomics/WHO

External Initiatives

A non-exhaustive, alphabetically ordered list of initiatives and/or projects related to the region that aim to collect, preserve, and share genomic data to improve health and scientific knowledge. PAHO does not sponsor any of the initiatives listed below. To include additional initiatives or projects, please get in touch with us at hqeihsk@paho.org

Consorcio Latinoamericano de Genómica del Cáncer de Mama (LAGENO) - USA

Consortium for Genomic Diversity, Ancestry, and Health in Colombia (CÓDIGO) - Colombia

Consortium for the Analysis of the Diversity and Evolution of Latin America (Candela) - England

Decoding Complex Inherited Phenotypes in Rare Disorders (DECIPHERD) - Chile

Enfermedades raras y anomalías congénitas - Ministerio de Salud Pública de Uruguay

Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC)

Genetic Ancestry and Health in the Colombian Pacific (ChocoGen)

Genomas Brasil - Ministério da Saúde

Genomas Raros - Ministério da Saúde, Brazil

Genome Canada

Global Alliance for Genomics and Health (GA4GH)

Instituto Nacional de Medicina Genómica (Inmegen) - Mexico

Latin American Genomics Consortium (LAGC)

National Center for Genomes (NCGR) - USA

National Organization for Rare Disorders (NORD) - USA

Programa de referencia y biobanco genómico de la población argentina (PoblAr) - Argentina

Red Mexicana de Enfermedades Raras (ReMexER) - Mexico

Rede Genômica Fiocruz- Brazil

Sanford Children's Genomic Medicine Consortium - USA

Silent Genomes project - Canada

The Joining All: Genes, immUnity And DiveRsity Project (JAGUAR)

The Rare Genomes Project-Broad Institute of MIT and Harvard - USA

Vermont Oxford Rady Children's Genomic Network - USA

External Resources

Information and learning resources external to the organization and relevant to human genomics. To include more resources, please get in touch with us at hqeihsk@paho.org.

Articles&Publications

Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas (CellGenomics, Nov. 2024)

LARGE-PD: Examining the genetics of Parkinson's disease in Latin America (Movement Disorders, 2017)

The WHO genomics program of work for equitable implementation of human genomics for global health (Nature Medicine, 2024)

Data Bases

Archive of Brazilian Mutations (AbraOM)

Argentina DNA Variant Database

Amish, Mennonite, and Hutterite Genetic Disorders Database

Brazilian Initiative on Precision Medicine (BIPMed)

ChileGenomico

Clinical Genome Resource (ClinGen)

Clinvar