Project will do genetic sequencing to speed up diagnosis of rare diseases in babies

A new Brazilian project will sequence the genome of babies suspected of suffering from rare diseases in an attempt to speed up the diagnosis and treatment of newborns — most of these conditions are caused by genetic issues.

Diseases that affect up to 65 patients for every 100,000 people are classified as rare, explains Gustavo Campana, medical director of Dasa, a network of laboratories and hospitals that finances the research.

According to him, there are more than 9,000 different diseases identified in the world. In Brazil, 13 million people suffer from this condition.

In the normal scenario, a baby suspected of having one of these rare diseases could undergo up to three tests to receive the diagnosis. The first one is the karyotype that takes around 30 days to have a result.

But it only confirms the diagnosis of rare disease in 5% of cases. Thus, most of the time, a second exam is needed, the array, which also takes 30 days and has a confirmation rate of around 20%. There is also a third exam, the complete exome, which takes up to 60 days to be ready.

“When we put all the tests together, it’s a long time before I get an answer for a child who would need to start treatment as soon as possible”, says Michele Migliavacca, medical manager at GeneOne, a laboratory in which rapid genetic sequencing is performed.

This amount of exams and the delay in reaching the diagnosis influenced the name of the project, named Odisseia in reference to which babies are submitted.

The focus of the initiative is newborns who are hospitalized in neonatal ICUs and suspected of having a rare disease. DNA samples are provided by three Dasa partners: Hospital Sabará, Hospital das Clínicas da USP (both in São Paulo) and Hospital das Clínicas de Porto Alegre (RS).

With these samples, it is possible to carry out genetic mapping to detect rare diseases much faster. Currently, the average time is 15 to 20 days in Odisseia, but international experiences have already managed to sequence in just five hours.

“We bring this information very quickly to the doctor who is treating that baby so that we can have an agile diagnosis and a course of action can be taken”, explains Campana.

This speed helps to improve the quality of life of babies and avoid sequelae. Migliavacca cites as an example spinal muscular atrophy, a neurological, degenerative and progressive disease.

A baby born with this condition has a process of losing muscle strength, having difficulty moving the limbs of the body. According to her, the treatment can stop the evolution of the disease, but is not able to recover what has already been lost. So, the faster it starts, the better the child’s condition in the future.