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HomeHealthEnhancing Diversity in Genomic Databases: A Call to Action by Experts

Enhancing Diversity in Genomic Databases: A Call to Action by Experts

Researchers have created a comprehensive and detailed genomic database specifically for Latin Americans. This database consolidates genome-wide information from various Latin American populations into one accessible resource, enabling other scientists to integrate this data into their studies without significant financial burden.

It is widely recognized that existing genomic databases largely favor individuals of European descent. Experts caution that omitting other demographics can result in misleading outcomes in critical areas like drug creation, diagnostic evaluations, and polygenic risk scores, which assess multiple genetic variations in one’s DNA to forecast potential health risks.

At the Institute for Genome Sciences (IGS) at the University of Maryland School of Medicine (UMSOM), researchers have assembled a substantial genomic database focused on Latin Americans. This new resource compiles genome-wide data from Latin American groups into a singular platform, facilitating the inclusion of this demographic into other research endeavors at a manageable cost. Their findings were published in Cell Genomics on October 31.

The team defines Latin Americans as individuals with ancestry from Spanish or Portuguese-speaking nations in the Americas. In the U.S., Latin Americans account for 18% of the population and are the fastest expanding demographic, yet they remain underrepresented in biomedical studies, which contributes to health inequalities. Globally, there are approximately 656 million Latin Americans, comprising around 8.5% of the world’s total population.

The Genetics of Latin American Diversity Database (GLADdb) encompasses genome-wide data from nearly 54,000 Latin Americans across 46 different geographic areas. This newly established resource investigates the population structure of Latin Americans and provides a tool called GLAD-match to assist researchers in aligning genes from external samples with those in the database. GLAD-match serves as a valuable asset for the genetic research community, facilitating a shift from generalized categorization towards recognizing ancestry as a continuous spectrum.

“By treating Latin Americans as a singular, uniform group, we overlook their rich genetic diversity, which can impede advancements in population health and treatments for numerous diseases,” stated Timothy O’Connor, PhD, the primary author of the study and a scientist at IGS, who is also an Associate Professor of Medicine at UMSOM. “Our goal is to foster genomic research among Latin Americans, thereby enhancing the potential for precision medicine to benefit a wider audience.”

To construct GLADdb and GLAD-match, the researchers gathered data from whole genome sequencing projects throughout the Americas, in addition to dbGaP— the database of Genotypes and Phenotypes established by the National Human Genome Research Institute (NHGRI), which stores and shares data from genetic studies on humans. Most NHGRI-funded genomic studies are obliged to submit their findings to dbGaP after publication.

“Our understanding of ‘heritage’ encompasses culture, geography, and genetics, which allowed us to investigate the historical genetic relationships among Latin American countries through migration and population structure,” remarked Victor Borda, PhD, the corresponding author of the study and an IGS Research Associate. “For instance, during the early 1900s, significant outmigration from Puerto Rico occurred due to various social and economic issues. Our research indicated that those who moved to Hawaii were predominantly rural individuals involved in farming, while migrants to New York represented a variety of social and economic backgrounds.”

Currently, Latin Americans constitute only about 0.38% of participants in genome-wide association studies (GWAS). The researchers argue that GLADdb can significantly enhance knowledge of Latin American population genetics and genetic epidemiology by comparing external samples to those within the database.

Dr. O’Connor noted, “Our limited understanding of the genetic diversity and environmental elements affecting the health of Latin Americans has constricted the medical field’s grasp of complex traits in this population. We aspire for other researchers to utilize GLADdb and GLAD-match in their investigations, enhancing our insights and addressing disparities within the Latin American demographic as precision medicine evolves.”