Towards clinical genomics in Mexico: History and proposals

Abstract

Clinical genomics is an essential tool for the diagnosis and management of genetic disorders; however, its development in Mexico has been limited and uneven. Despite recent progress, such as the establishment of new medical genetics residency programs and specialized clinical units, services remain highly centralized and diagnostic infrastructure is scarce. Most hospitals lack in-house genetic laboratories, forcing reliance on private or foreign services that are often prohibitively expensive, creating significant barriers for patients. Furthermore, there is a shortage of clinical geneticists and available positions in the public health system, contributing to a considerable lag in care.

Initiatives such as the National Rare Disease Registry and the efforts of patient advocacy organizations (e.g., FEMEXER, AMAER, ANER) have increased visibility and support for individuals with genetic and rare diseases, but they cannot fully address the wide spectrum of conditions, particularly ultra-rare disorders. To overcome these challenges, five key priorities are proposed: strengthening public genomic diagnostic infrastructure, decentralizing clinical services, expanding training programs and job opportunities for clinical geneticists, consolidating a standardized national rare disease registry, and reinforcing collaboration between institutions and civil society. These actions are fundamental to ensuring the constitutional right to health and advancing equitable access to genomic medicine in Mexico.