From 8 years to a few months: a Chilean project reduces the time to diagnose “rare diseases”

Eight years to receive a correct diagnosis. This is the reality of a large part of the people who live in Chile with one of those classified as rare or uncommon diseases (RD) which according to the definition of the American health system correspond to those who They affect one in 200,000 people.

At the World level, It is estimated that there are more than 8,000 pathologies of this type, according to the World Health Organization. Together, they could attack between 6 and 8% of the world’s population. According to the Ministry of Health in Chile there could be almost a million people who live with one of these diseases.

Recently, the University of Desarrollo presented the results of a project that significantly reduces the time needed to diagnose these diseases for patients who participated in the project . In this paper, an interdisciplinary team used techniques pioneered in Chile to identify the presence of genetic conditions.

According to Dr. Luz María Martín, one of the project’s researchers, there is a series of gaps and problems that extend over months or even years before having a proper diagnosis, initiatives like this can therefore be “very important for families. »

80% of rare diseases have a genetic origin, that is, they are transmitted from parents to children. To identify them, you must visualize what are the genes who could be affected by the disease.

This is done through a process of sequencing of information available in the patient’s blood . This registry allows us to compare the results with those of people who specialists suspect of having DR.

Therefore, the project Decoding complex hereditary phenotypes of rare diseases (DECIPHERD) of UDD has dedicated itself to sequencing the DNA of DR patients and their parents. Thus, three genomes are obtained to analyze and compare in order to have references and help a possible new affected person.

Martín explains that the patients in the study were contacted by different health centers associated with the UDD in different regions of Chile, because centralization is often a problem for people who suffer from these diseases and They cannot access specialists outside of Santiago.

The doctor explains that this type of analysis is very expensive to carry out in Chile, because it is still difficult to have equipment and professionals specialized in the field. For this reason, in the UDD, samples are extracted and They are sent to the United States, where sequencing is carried out. then the information is returned.

This is how, with a bioinformatics team, on the university premises, it is possible « filter the alterations found and make a diagnosis,” explains the researcher. “Ideally, the entire process would be carried out in Chile, both sequencing and analysis, to reduce costs and time. » Explain.

Furthermore, since this is a research project, the researcher specifies that participation in the program does not and will not have any cost to patients . In the study published in January 2024, it is mentioned that “it is crucial that these tests can be carried out in Chile, but The health system does not offer this coverage,” he adds.

According to organizations such as Foundation for Patients with Lysosomal Diseases of Chile (FELCH) the big problem lies not only in the diagnosis but also in Health care access . All these diseases generally have a high price in medicines, which often have to be imported into Chile, in addition to the examinations and care provided in the private health system.

Currently, the GES program only covers the treatment of 7 rare diseases: hemophilia, cystic fibrosis, childhood cancers, systemic lupus erythematosus, cleft lip and palate, juvenile idiopathic arthritis and relapsing-remitting multiple sclerosis. For its part, thanks to the Ricarte Soto law, you can access the treatment of others 19 rare diseases.

It is for this reason that Myriam Estivill, general director of FELCH, specifies that “currently, Chilean public policy does not facilitate access for patients to benefit from medical services, including treatments and diagnostics. nor to support the networks that help them resolve their situation.

In many of these cases, families must choose organize raffles and other charitable activities to raise resources for treatment . For this reason, every last day of February in Chile and around the world is a day of awareness of these diseases.

“The situation faced today by families affected by the diagnosis of a rare disease, which They see how their sons and daughters have to go through often unrecognized physical difficulties, wandering in hospitals and without support, it’s a country problem. which requires maximum visibility and interest from authorities and citizens,” declared Myriam Estivill.