Conference Abstracts - Summit on Cancer Health Disparities (SCHD26)
Vol. 6, Issue Supplement 1, 2026 · S1-1
Whole-genome sequencing for precision treatment of myeloid malignancies in Latin America
Cristobal Frutos, MD,Diana Gonzalez, MD,Leticia Campoverde, MD,Jennifer Lewis, MD,Macarena Roa, MD,David Spencer, MD,Luis Malpica, MD,Samuel Urrutia, MD,Andres Ramirez-Gamero, MD
Submission received: 2025-12-16 / Accepted: 2026-01-07 / Published: 2026-01-25
Abstract
Background
Outcomes and therapy selection for myeloid neoplasms are strictly dictated by cytogenetic and molecular characteristics. However, access to these diagnostics is globally unequal; in Paraguay, historical data (2012–2015) indicates that less than 50% of patients received cytogenetic testing and zero patients received molecular testing. To address this disparity, we founded the Leukemia in Latin America Mapping and Sequencing (LLAMAS) initiative in 2024 to expand access to molecular diagnostics in the region.
Methods
Patients diagnosed with myeloid neoplasms at the Instituto de Prevision Social (IPS) in Asuncion, Paraguay, will undergo on-site whole-genome sequencing (WGS). We utilize the ChromoSeq protocol (Duncavage, NEJM 2021) to capture all relevant cytogenetic and molecular variants in a single assay. This approach renders conventional karyotyping and fluorescent in-situ hybridization (FISH) obsolete, a critical advantage in Paraguay where such conventional infrastructure is not widely available.
Results
Physicians receive a comprehensive cytomolecular report within 4–6 days of sample processing. This report details structural variants (e.g., t(8;21), inv(16), KMT2A rearrangements), copy number abnormalities (e.g., del(5q), chromosome deletions/gains), and single-gene variants (e.g., NPM1, FLT3, IDH1/2). These results enable immediate risk stratification and the selection of appropriate therapies, including intensive chemotherapy, venetoclax-based regimens, or stem cell transplantation. Additionally, this molecular data will facilitate engagement with sponsors to design clinical trials specifically for this population.
Conclusion
Conventional cytogenetic testing never fully developed in Paraguay. Molecular characterization via WGS represents a technological leap, bypassing older methods to provide access to state-of-the-art diagnostics. This initiative enables patients with myeloid neoplasms to access superior therapies and aims to significantly improve clinical outcomes.