Colombia’s Rare Disease Patients Wait Up to 19 Years for a Diagnosis, Study Finds

PUBLIC HEALTH · RARE DISEASE ACCESS · OCTOBER 22, 2026 · COLOMBIA

For patients living with a rare disease in Colombia, the wait for a correct diagnosis can stretch for years — according to ‘Beyond health: The wider impacts of rare diseases in Colombia’, a study led by Rare Diseases International (RDI) with Colombian patient groups including the Federación Colombiana de Enfermedades Raras (Fecoer) and ENHU, the Observatorio Interinstitucional de Enfermedades Huérfanas (Colombia’s inter-institutional rare disease observatory), as reported by El Tiempo. The study, funded by AstraZeneca and Chiesi with technical support from Charles River Associates, analysed 42 rare diseases, including a survey of 120 patients, and found an average of 25 months between first symptoms and a confirmed diagnosis, and up to 19 years in some cases. Some 42 percent of surveyed patients spend more than a quarter of their annual income on disease-related costs, a level the study says can reach catastrophic spending.

The finding lands against a legal backdrop that has, on paper, recognised the problem for more than a decade. Colombia’s Ley 1392 de 2010 (Law 1392 of 2010), the country’s foundational rare disease statute, classifies enfermedades huérfanas — orphan or rare diseases — as ‘a problem of special interest in health,’ explicitly acknowledging that their low prevalence but high treatment cost requires a differentiated insurance mechanism within the Sistema General de Seguridad Social en Salud (SGSSS). The distance between that statutory intent and the diagnostic reality the study describes is the operative policy problem.

The Ministerio de Salud y Protección Social (Colombia’s Ministry of Health and Social Protection) has continued to build out the regulatory architecture. Resolution 2625 of 2025, issued in December 2025, updated the official list of rare diseases recognised under Colombian law, per the ministry’s published text. Resolution 542 of 2025 established criteria for the centralised purchase, distribution, and supply of medicines for rare diseases not financed through the Unidad de Pago por Capitación (UPC) — the per-capita payment unit that funds standard health benefits — signalling an attempt to address the financing gap for treatments that fall outside the standard benefits basket. A separate resolution, No. 117 of 2026, announced by the ministry on January 30, 2026, expanded Colombia’s neonatal screening programme from one metabolic test to seven, adding phenylketonuria, galactosemia, cystic fibrosis, congenital adrenal hyperplasia, biotinidase deficiency and haemoglobin defects.

The gap between framework and practice

Regulatory activity at the ministry level has not, the study suggests, translated into shorter diagnostic pathways at the clinical level. The structural friction is legible: rare diseases, by definition under Colombian law (as amended by Ley 1438 de 2011), affect fewer than one in every 5,000 people, a threshold that limits the clinical exposure any individual physician is likely to accumulate. The WHO’s 78th World Health Assembly, in resolution WHA78.11 adopted in May 2025, noted that more than 7,000 rare diseases are currently known, affecting more than 300 million people globally, with 70 percent beginning in childhood — a distribution that places diagnostic pressure disproportionately on paediatric and primary care settings where specialist knowledge is thinnest.

For Colombia specifically, the implication is that the diagnostic delay the study identifies may be associated with a combination of low disease awareness among generalist physicians, limited specialist density outside major urban centres, and the administrative complexity of navigating a system that routes rare disease patients through standard referral pathways before activating the differentiated mechanisms Law 1392 of 2010 contemplates.

The counterpoint to a purely systemic reading is that Colombia’s regulatory output over the past two years — updated disease lists, centralised procurement rules, neonatal screening revisions — represents a genuine attempt to address the structural gaps, and that the study, based on a survey of 120 patients that El Tiempo describes as ‘una aproximación’, may not capture the effect of instruments issued in the past two years. Resolution 542 of 2025’s centralised procurement mechanism, for instance, could contribute to faster treatment access once a diagnosis is made, even if it does not directly shorten the diagnostic interval. Whether the new instruments are sufficient to move the diagnostic needle is an empirical question the study alone cannot answer.

For the diagnostics and rare disease therapy industry — two of whose members, AstraZeneca and Chiesi, funded the study — the commercial implication is directional rather than precise. A significant diagnostic delay, applied across a population of patients whose conditions are by definition underdiagnosed, suggests a latent demand pool for both diagnostic tools and disease-specific therapies that current market penetration does not reflect. The Instituto Nacional de Vigilancia de Medicamentos y Alimentos (INVIMA), Colombia’s national medicines and food surveillance institute, maintains a public registry of clinical studies in Colombia — 1,166 listed as of October 18, 2026, of which 1,165 are approved and 460 are in progress — though the registry’s summary does not break out rare disease trials.

The deeper signal in the study’s finding is that regulatory frameworks and patient outcomes can diverge for years without producing a visible crisis — because rare disease patients, by definition, are too few in any single location to generate the political pressure that drives faster reform. The diagnostic gap persists not because the law ignores it, but because the system’s incentive architecture was not designed around conditions that most clinicians will encounter only once or twice in a career.

Why this is relevant

Sources: El Tiempo: Exclusivo — estudio ‘Beyond health’ sobre enfermedades raras en Colombia (17 oct 2026) · Ministerio de Salud y Protección Social: Resolución 2625 de 2025 — actualización listado enfermedades huérfanas · Ministerio de Salud y Protección Social: Resolución 542 de 2025 — compra centralizada medicamentos enfermedades huérfanas · WHO: WHA78.11 — Enfermedades raras, prioridad de salud mundial · INVIMA: Registro de estudios clínicos autorizados en Colombia · Ministerio de Salud y Protección Social: Resolución 117 de 2026 — ampliación del tamizaje neonatal · Ley 1392 de 2010