Implementation and Cost-Effectiveness of Whole-Genome Sequencing for Acute Leukemias in Latin America

BackgroundLeukemia outcomes in Latin America remain poor despite major therapeutic advances in highincome countries.Despite precision treatments being available, modern genomic diagnostics to inform these treatments are not available across the region.In 2020, approximately 38,000 people in Latin America were diagnosed with acute leukemias, and nearly 27,000 died from their disease.Although genomic profiling has transformed risk stratification, treatment selection, and transplantation decisions in the United States and Europe, many Latin American centers lack access to cytogenetics, fluorescence in situ hybridization, and molecular testing.Consequently, patients are frequently treated without the genomic information required for precision care.The Genomics of Leukemia in Latin America (GEMA) study was developed to address this disparity. MethodsGEMA is an international, multi-institutional, prospective cohort study embedded within the Leukemia in Latin America Mapping and Sequencing initiative (LLAMAS; llamas.lat).The study will collect bone marrow aspirate or blood, perform on-site WGS with local partners, and transfer raw sequencing data for analysis using the ChromoSeq workflow developed at Washington University (Duncavege, NEJM 2022).The specific aims of this study are to: 1) characterize the clinico-demographic and cytomolecular features of leukemia in participating centers; 2) evaluate the detection of clinically relevant variants by on-site WGS, and 3) perform a contextualized healthcare costeffectiveness analysis comparing WGS with existing workflows.