First year results and insights from the Mexican Rare Disease Patient Registry

Rare diseases are defined based on their low-prevalence occurrence in the general population, individually affecting a small number of people, but having a major health and social impact collectively. It is estimated that at least 300 million people live with a rare disorder globally, however the exact numbers are not available for most countries. Patient registries are valuable tools that allow to better understand the prevalence of diseases in the population, the needs of patients and their health outcomes, and provide information for improved healthcare planning. The Mexican Rare Disease Patient Registry is an open, online, self-reporting registry study launched in 2022 to gather information about the prevalence of rare diseases in the Mexican population, the need for access to timely diagnosis, and the challenges faced by patients living with these conditions in the country. We report the analysis and results of the data collected for 144 patients that completed the questionnaire during the first year of the Registry. Results show that the mean time to clinical diagnosis for patients registered during the first year was 8 years, with an average of 6 medical specialists consulted. Additionally, while 71.53 % of registered patients reported having been informed that their condition could have a genetic origin, only 39.58 % were referred to a genetics specialist. Only 27.77 % of patients have had genetic or molecular testing performed, despite more than 80 % of patients reporting positive attitudes towards genetic testing shall it be offered or available to them. Through these initial analyses and data gathered, we are starting to elucidate relevant trends in access to diagnosis, care and treatment for patients living with rare and low-prevalence diseases in Mexico. These data will be useful for better health services planning and addressing the needs of patients and families living with these low-prevalence conditions in the country to ensure better outcomes and quality of life.