Rare Diseases: The Urgent Need to Close Mexico’s Diagnostic Gap

In Mexico, millions of people live with a rare disease. Nevertheless, most of them transit through the healthcare system as if they were invisible. Each delayed diagnosis not only means years of suffering for patients and their families but also represents increased costs and inefficient use of resources, in addition to pressure on hospitals, and a missed opportunity for innovation in healthcare. Closing the diagnostic gap in rare diseases is both an ethical responsibility and a strategic decision for the country.[1]

Rare diseases are generally defined by their low individual frequency (one in 2000 people). However, they represent together a major public health challenge. According to estimates based on international prevalence applied to our population, whereas each condition affects a relatively small number of people, collectively, they affect between 8 and 10 million Mexicans. That is not only a number. It reflects onto similar stories: misdiagnoses, long journeys through multiple clinics, ineffective treatments, and preventable complications. The paradox is clear: we defined these diseases as rare but they are common as a shared experience of frustration and diagnostic delay.[2]

The first major obstacle is the lack of data. Mexico does not have a comprehensive national registry of rare diseases that would allow policymakers to comprehend the problem, plan resources, and evaluate public policies. The absence of systematic information makes everything more difficult, from the strategic procurement of diagnostic inputs to the design of clinical pathways. Without data, the system is forced to act case by case instead of anticipating needs and building structural solutions.[1]

The so-called “diagnostic odyssey” is the most painful and costly feature of rare diseases. International experience shows that patients can wait five to seven years on average before receiving an accurate diagnosis. In Mexico, available evidence suggests similar or even longer trajectories. During that time, people see multiple specialists and receive treatments that do not help. These treatments sometimes even worsen their condition or produce secondary effects. For the healthcare system, this translates into avoidable hospitalizations, repeated use of general tests without reason and rising costs without proportional results. For families, it means loss of productivity, catastrophic costs and important distress.[7]

In our country, this odyssey is exacerbated by well-known gaps. There are few third-level centers able to manage these diseases, and there is a lack of standardized protocols for suspicion and referral. In addition, the health system is fragmented, with multiple public and private subsystems that produce highly uneven and often labyrinthine care pathways. Timely diagnosis becomes a privilege tied to where the patient live, their socioeconomic status or their access to third-level health medical attention, rather than a basic standard of care.[1] 

There are also important structural barriers at several levels. Primary care physicians usually lack the tools and time to consider rare diseases among their differential diagnoses. In public settings in particular, the allotted time for each patient is extremely low. In addition, there are no clear referral and counter‑referral routes to accelerate the evaluation of suspected cases. This is exacerbated by the limited availability of high‑complexity testing, such as genomic panels. The result is, as expected by these facts, is that advanced diagnostics are used infrequently or too late.[2]

Still, the outlook also offers significant opportunities. Approximately 80% of rare diseases have a genetic basis, which makes genomics a central tool for shortening the diagnostic odyssey. Mexico already has scientific and technological capabilities in genomics, high-level research centers, and skilled professionals capable of interpreting complex data. For example, the Instituto Nacional de Medicina Genomica (INMEGEN) has the largest experience in Genomic Diagnosis for these diseases in the country, with more than a thousand tests each year. The challenge is to translate that capacity into concrete solutions for the healthcare system and, at the same time, help to create sustainable business models for private entities.

It is also important to develop additional diagnostic reference centers, specialized laboratories, and clinical decision-support platforms that are able to create high-value-added services. These should range from multigene panels tailored to Mexico’s population profile to digital tools that integrate clinical and genomic data to guide physicians toward more precise diagnoses (such as the Iniciativa Mexicana para la Oncogenomica Pediatrica or IMOP).[3] For the private sector, this opens a space to offer evidence‑based solutions with payment models built around value and outcomes, perhaps even aligning incentives with shorter time‑to‑diagnosis or decrease the overall costs for the patients' life. 

One of the most important components of this required transformation is public–private partnerships. The public sector can contribute scale, legitimacy, and an equity-driven vision for access, whereas the private sector could bring capital, innovation, deployment and agile execution. A first step could be the design of collaborative schemes to implement pilot genomic diagnostic programs for rare diseases. This could demonstrate cost-effectiveness and feasibility before scaling nationwide. With this evidence in hand, decision‑makers can redefine benefits, clinical guidelines and the private sector generate business models according to the results.

In recent years, there have been encouraging signs. In 2023, the Consejo de Salubridad General issued an Agreement to recognize rare diseases following the WHO guidelines. More recently, legislative initiatives in the Chamber of Deputies are seeking to amend the General Health Law to create both a National Commission of Rare Diseases and a National Registry of Rare Diseases. This would be accompanied by a dedicated chapter that formally defines these conditions and mandates comprehensive care, which should be analyzed in detail, due to the economic implications. Parallel proposals in the Senate reinforce the State’s responsibility for rare diseases and call for stronger institutional architecture to support diagnosis, treatment and long‑term follow‑up. These efforts gained visibility in February 2026 during the First Bicameral National Forum on Rare Diseases, where deputies and senators backed the creation of the Registry and the Commission, and advocated for early diagnosis, a specific Health Fund for Rare Diseases. In this regard, both INMEGEN and UNAM have already launched patient registries, and INMEGEN has already established a diagnostic program for rare diseases. These success stories show that combining scientific capacity, institutional commitment and collaboration can have an impact.

Nevertheless, the central challenge remains scaling these experiences into a coordinated policy and a clear agenda. We should move forward by updating and expanding the official list of rare diseases, strengthening a unified national registry, and defining explicit diagnostic pathways that include criteria for advanced testing. Payers — both public institutions and private insurers — can adopt coverage schemes for high‑complexity diagnostics, especially when it is shown that these tests prevent years of inefficient care. The pharmaceutical and diagnostics industries, in turn, should invest in solutions adapted to the local context and in innovative access models, such as risk‑sharing agreements or phased implementation programs.

It is important to note that the National Health Institutes play an irreplaceable role in generating local evidence. It is essential to estimate the true cost of a diagnostic odyssey, compare scenarios with and without access to advanced testing, and document the clinical and economic benefits of early diagnosis. With this data, decisions on financing and prioritization move from abstract and personal discussion to informed choices in public policy, always taking care of a humane distributive justice.

At its core, the message is simple: without a diagnosis, there is no treatment, no planning, and no real assessment of cost effectiveness. Investing in timely diagnosis of rare diseases is not a luxury. It is a smart strategy to organize the system, protect patients, and use available resources more efficiently. Mexico is at a point where its scientific capacity, innovation ecosystem and growing interest in precision medicine can align to advance to the Medicine that the country will require in the next few years.

If we manage to build a shared agenda among the government, private health entities and academia, Mexico will not only be able to reduce the diagnostic odyssey for millions of patients with rare diseases but also position itself as a regional hub for advanced diagnostics. Closing the diagnostic gap in rare diseases is a winning bet for everyone involved.

Jorge Meléndez Zajgla is General Director of Mexico’s National Institute of Genomic Medicine (INMEGEN). He has led and collaborated on multiple initiatives in cancer genomics, precision medicine and the development of diagnostic strategies for rare diseases in Mexico.[4]

Sources

[1] Mexico Needs to Prioritize Research on Rare Diseases https://mexicobusiness.news/health/news/mexico-needs-prioritize-research-rare-diseases

[2] Rare Disease Care and Treatment in Mexico: An Evolving ... https://axiosint.com/rare-disease-care-and-treatment-in-mexico-an-evolving-landscape

[3] National Institute of Genomic Medicine. Inmegen to host the 3rd Pediatric Cancer Symposium [Internet]. Mexico City: INMEGEN; 2026 Feb 20 [cited 2026 Mar 24]. Available from: https://www.inmegen.gob.mx/noticias/2026/02/20/inmegen-sera-sede-del-3er-simposio-de-cancer-infantil/[1]

[4] National Institute of Genomic Medicine. Precision medicine: scientific progress, better efficacy and cost reduction [Internet]. Mexico City: INMEGEN; 2025 Nov 30 [cited 2026 Mar 24]. Available from: https://www.inmegen.gob.mx/noticias/2025/12/01/medicina-de-precision-avance-cientifico-mejor-eficacia-y-reduccion-de-costos/[2]

[4] Dr. Jorge Meléndez Zajgla - Instituto Nacional de Medicina Genómica https://www.inmegen.gob.mx/investigacion/investigadores/curriculum-vitae/?perfil=221