Advances in genetic diagnosis in Colombia

Resumen

Over the past 20 years, genetic diagnosis has established itself as a tool of paramount importance for prevention, early detection, and personalized treatment of a wide range of conditions, both genetic and multifactorial in origin. Colombia represents a paradigmatic example of how the global debate on this subject has significantly influenced national legislation and public policies, making it imperative to critically examine both the achievements and the challenges involved. One of the most distinctive features of the national context is that, under the Statutory Health Law, genetic testing must be covered by the Health Benefits Plan (PBS), an instrument grounded in the recognition of health as a fundamental right. Consequently, access to all genetic diagnostic tests is guaranteed to any Colombian citizen who requires them. Likewise, Resolution 5267 of 2017, issued by the Ministry of Health and Social Protection, defines the services and technologies included under the PBS, thereby ensuring the incorporation of molecular biology and genetic testing. Additionally, Law 1392, which regulates the comprehensive care of orphan diseases, plays a key role in ensuring patient access to genetic testing without administrative barriers. This same principle is reflected in Decree 1954 of 2012, which regulates oversight of clinical laboratories engaged in molecular testing. Together, these regulations echo the global debate and position Colombia as a regional model for equitable access to genomic medicine.

In the country, the development of next-generation sequencing platforms—including multigene panels, clinical exomes, and whole-genome analysis—has become a reality. Academic institutions such as Universidad de los Andes, Universidad Nacional, and high-complexity healthcare centers have strengthened their diagnostic capacities, enabling the identification of genetic variants in hereditary cancer, cardiopathies, neuromuscular disorders, among others. The implementation of genetic telemedicine has further expanded the availability of services to remote regions, supported by state-funded initiatives and medical and scientific associations. The universality of access to genetic testing has had a direct impact on public health. In oncology, for example, screening for BRCA1 and BRCA2 mutations has enabled the identification of carriers at increased risk, leading to intensified surveillance strategies and targeted therapies. In pediatrics, early diagnosis of hereditary metabolic diseases has facilitated timely interventions that alter disease progression. In infectious diseases, Colombia was a pioneer in adopting molecular biology techniques for the diagnosis of Zika virus and, subsequently, SARS-CoV-2.

Despite these advances, considerable challenges remain. Infrastructure continues to be unevenly distributed: while most molecular biology and clinical genetics laboratories are located in major cities, rural areas depend on the referral of samples, which prolongs turnaround times. The training of specialized human resources is still insufficient, as the number of medical geneticists falls short of the growing demand. Furthermore, although access to genetic testing is guaranteed free of charge, numerous administrative and bureaucratic hurdles often delay authorization. Finally, the ethical framework and protection of genomic data remain underdeveloped. Although Law 1581 of 2012 regulates the protection of personal data, genetic data—given its sensitive nature—requires specific guidelines that have not yet been established. The greatest challenge lies in consolidating a national genomic medicine system, grounded in the integration of population databases that can capture the genetic diversity of Colombians. Such efforts are crucial for translational research and the advancement of personalized medicine. In addition, international cooperation, the expansion of neonatal screening programs, and the regulation of direct-to-consumer genetic testing represent priority issues in the coming years.