National Census of Rare Diseases to Improve Care Standards

Mexico’s General Health Council announced the creation of a national census for patients with rare diseases. “This will improve the treatment for these patients. Globally, there are about 7,000 rare diseases and Mexico identified just 20 in the country,” according to Cristóbal Thompson, Executive Director of AMIIF.

The Rare Disease International Organization reported that there were 300 million people living with a rare disease worldwide. From the 7,000 identified diseases, 71.9 percent are genetic and of those 69.9 percent start in childhood. However, poor diagnosis and reporting might cause some cases to slip through the gaps, leading to the underrepresentation of some rare diseases, particularly in Mexico.

Due to the genetic component of most rare diseases, only 5 percent of the millions diagnosed have received treatment, according to the World Economic Forum. About 30 percent of children with a rare diseases die before they reach their fifth birthday, often without a diagnosis. A study by the EveryLife Foundation for Rare Diseases found that the estimated economic cost of 379 rare diseases in the US totaled US$966 billion in 2019, a figure that surpasses the economic burden of many of the most expensive chronic diseases described by the CDC, including diabetes, heart disease and cancer.

To develop a comprehensive strategy to diagnose and treat these diseases, it is necessary to map them. Mexico’s National Census of rare diseases will begin taking submissions in October 1 and will remain open until January 2022.

The country had previously taken measures to highlight the existence and prevalence of rare diseases. In 2017, it created the Commission for the Analysis, Evaluation, Registration and Monitoring of Rare Diseases, currently made up by the heads of INSABI and COFEPRIS and representatives of the Ministry of Health. In 2018, the Commission for the Analysis, Evaluation, Registration and Monitoring of Rare Diseases released an official list documenting 20 rare diseases identified in the country. This commission also prioritized early diagnosis of rare diseases by strengthening the neonatal screening, improved reference and counter-reference criteria and consolidated control measures for the early detection of possible genetic deficiencies.

Mexico’s census aligns with WHO’s calls for a global response to generate awareness on rare diseases and begin a coordinated plan to properly care for these patients.