Resumen
In Colombia, genetic diagnosis has advanced significantly over the past two decades, establishing itself as a key tool for prevention, early detection, and personalized medicine. The legal framework, including the Statutory Health Law, Resolution 5267 of 2017, and Law 1392, has ensured equitable access to genetic testing through the Health Benefits Plan. The country has incorporated massive sequencing technologies, genetic telemedicine, and clinical applications in oncology, pediatrics, and infectious diseases. However, challenges remain regarding infrastructure distribution, specialist training, administrative barriers, and specific regulation of genomic data. The consolidation of a national genomic medicine system and the integration of population databases stand out as strategic priorities to strengthen research and public health.