Genetics services in Latin America: a descriptive study of availability and utilization of genetics in healthcare

Genetic services are expanding globally, but access remains limited in low-resource regions such as Latin America. Understanding current service availability, barriers, and facilitators is critical to guide capacity building and improve patient care. We conducted a cross-sectional survey of healthcare professionals providing genetic services in Latin America. The survey, available in Spanish and English, assessed genetic services, referral patterns, testing availability, barriers, facilitators, and perceived needs. Descriptive statistics summarized quantitative data, and thematic analysis was applied to open-ended responses. Eighty-five respondents from 18 countries reported broad clinical activity across pediatric, cancer, and adult-onset genetic conditions. Commonly ordered tests included karyotype, gene panels, and exome sequencing, with many sending samples abroad. Key barriers included high costs, workforce shortages, and limited clinician familiarity with testing. Facilitators included clinician interest and laboratory partnerships. Respondents emphasized the need for expanded test access, workforce development, and increased training opportunities. Genetic services in Latin America show substantial growth but face persistent barriers. Strengthening local infrastructure, training, and collaborative efforts is essential to improve access, reduce diagnostic delays, and enhance patient outcomes.