Advances in the field of medical genetics promise to change the course of once incurable diseases, yet thousands of patients remain trapped in a bureaucratic maze that consumes the most valuable resource in medicine: time. The irony is stark. Never before have there been so many tools to identify rare conditions or so many therapeutic alternatives. Despite this, the journey for many families still resembles that of thirty years ago. According to the report, the average patient takes between five and eight years to receive a diagnosis. By the time a diagnosis is reached, the opportunity to obtain the maximum benefit from treatment has often already been lost.
The evolution of the field explains this shift. For decades, genetics served to understand the origins of diseases. Today, it begins to correct them through directed therapies and gene therapy. Genetic editing, knowledge of the human genome, and the development of highly specialized treatments are now part of clinical practice for various conditions. The bottleneck, paradoxically, is at the first point of contact. The absence of national records and the system’s capacity to guarantee timely access are the main barriers.
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The recent incorporation of vosoritide into the National Compendium of Health Supplies illustrates this transition moment. Mexico now has the first approved treatment to improve linear growth in children and girls with achondroplasia, an advance long awaited by families. However, regulatory approval marks only the beginning of the journey. The specialist summarizes the situation with a phrase that should become a public policy objective: “The next challenge is that it is available in institutions.” Achieving that the medication reaches the public institutions where patients are treated represents the greatest challenge. Inclusion in the Compendium does not, by itself, guarantee that the treatment will reach the IMSS, ISSSTE, Pemex, the military health systems, or state health systems. Between authorization and access remains an administrative, budgetary, and operational stretch that can extend for months or even years.
In diseases like achondroplasia, time also has clinical consequences. The specialist notes that vosoritide offers benefits while growth plates remain open. Delaying its availability means losing a therapeutic window that cannot be recovered later. In other words, the bureaucratic calendar ends up imposing itself on the patient’s biological calendar. What is the point of approving an innovation that remains out of reach of those who need it? A treatment that exists but cannot be prescribed or supplied in the public system represents an unfulfilled promise for patients and a scientific investment that has not yet generated its full social value.
Mexico still lacks a National Registry of Rare Diseases. Without that information, it is impossible to plan budgets and design evidence-based public policies. As the specialist points out, we cannot continue taking decisions based on statistics from other countries when our genetic composition and epidemiological reality are different. Signs of progress are beginning to appear. The Faculty of Medicine of the UNAM will incorporate rare diseases as a mandatory part of clinical genetics training. It may seem like an academic decision; in reality, it is a long-term bet to reduce diagnostic wandering from the first level of care.
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While the idea is sound, execution often proves difficult. Mexico has already demonstrated that it can incorporate world-class biomedical innovation. Now it must demonstrate that it can also deliver it to the patient’s bedside. Innovation does not end when a medication receives sanitary authorization or appears in the National Compendium of Health Supplies. Innovation ends, really, when a child receives the correct treatment, at the correct time, and in the institution where they have the right to be attended. That remains the great challenge.
According to the report, “Together we are stronger and together we are visible.” This alliance between academia, authorities, health institutions, patient organizations, and the pharmaceutical industry will be indispensable for innovation to stop being a promise and become a reality for thousands of Mexican families, because innovation only fulfills its purpose when it stops being news and becomes treatment.
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