• Since the country made progress in regulating orphan diseases, through Law 1392 of 2010 and the regulation of neonatal screening (Law 1980 of 2019), early diagnoses have been improved and greater awareness has been created regarding the existence of this type of pathologies.
• In the country, 58,032 patients form part of the National Registry of Rare Diseases.
Bogotá, February 2021. On February 28th , World Rare Disease Day was celebrated, a day to raise awareness in the world and remember the importance of timely diagnosis for the more than 50,000 patients with rare diseases in the country. According to the Ministry of Health, a rare disease is one that is chronically debilitating and life-threatening, with a prevalence of less than 1 in 5,000 people.
Dr. Fernando Suárez Obando, geneticist and director of the Human Genetics Institute at the Pontificia Universidad Javeriana, was part of the webinar organized by Afidro ‘What are rare diseases?’ and warned that, in order to refer to this type of conditions, it would be more convenient to speak of infrequent diseases, as the terms ‘rare’ and ‘orphan’ can lead to other connotations.
“When reading the definition, we find that it refers, specifically, to the frequency; namely, that it is a disease that few people suffer, especially when compared with more prevalent pathologies such as, for example, diabetes, myocardial or coronary disease, among others”, explained the expert.
Between 80% and 85% of these diseases are of genetic origin and, even the remaining percentage, probably present a genetic alteration, also. “The interesting thing about the disease’s variation is that even when it is genetic, the manifestations can be very late and that implies a diagnosis issue. Even when the patient is born with the genetic alteration, the manifestation can occur 40 or 50 years later, in adulthood”, said the expert.
In Colombia, 1,920 rare diseases have been identified and included in Resolution 430 of 2013. However, the specialist mentioned that, on the one hand, there is the frequency reported by the literature and, on the other, what is reported in the records. “At specialized centers, you can see many diseases that correspond to epidemiology, but when comparing it with the National Health Institute report, the data changes completely.”
This, the expert explains, is due to the fact patient associations that group those who suffer from this type of pathology, are the ones who mainly contribute with the organization of information by internally generating statistics that allow a more complete report to the public health system. “As people become aware that there are certain diseases that require a report, the numbers begin to grow”, stated Dr. Suárez.
Finally, the geneticist predicts an encouraging outlook for Colombia, highlighting that, by presenting a genetic component, these diseases enable an important development in technological, pharmacological and bioinformatic matters. “More or less in 5 or 10 years, we are going to have really fascinating advances from the scientific-academic point of view, useful and effective for patients. Gene therapy, gene editing and a series of medications will come, filling us with hope not only for us as treating physicians, but also for all patients and their families”, concluded the specialist.
Written by Afidro.