CBR Genomics, a technology company located in Cantanhede, district of Coimbra, explained that the new genetic test is “exclusively intended for babies and children” and it consists in a screening performed through the sequencing of all our genes.


Published on 31th of May 2022, in Jornal Expresso. Full report here.


A portuguese company, from the medical technology field, launches, the next wednesday, an “unprecedented and innovative” solution that allows to discover around 300 diseases in babies and children through a saliva sample.

Accordingly to the press release sent to Agência Lusa, CBR Genomics, a technology company located in Cantanhede, Coimbra’s district, explained that the new genetic test is “exclusively intended for babies and children” and it consists in a screening performed through the sequencing of all genes.

“Through a small saliva sample extracted from the inner cheek, it is possible to screen around 300 paediatric diseases”.

Cited in the press, the executive administrator (CEO) of CBR Genomics, Ana Catarina Gomes, highlighted that this new solution “come to accelerate the paradigm shift in healthcare, once the information contained in the children's DNA can be used as a tool to support the clinical decision, in a very early stage of symptomatology”.

The company remembers that the disease screening of babies is not new. Every year, “millions of newborns take the heel-prick test to detect around 3 dozen of paediatric diseases”.

The solution of CBR Genomics, named “DNA.files BABY”, comes to widen the range of pathologies able to be screened. It makes possible “the early detection of genetic alterations, which allow acting prevent in the disease”.

“Nowadays, one in 10 children has a mutation associated to a paediatric disease”, she said.

After collecting the saliva sample “in a painless and non-invasive way” from the child, a team of professionals “sequences the DNA and analyses 500 genes associated with more than 300 diseases”.

Afterward, a clinical report is available in three to four months and, if the diagnosis is confirmed, the pathology will be the followed-up by clinical intervention”, CBR explained.

Ana Catarina Gomes highlighted that nowadays is possible “to sequence the DNA in a fast and efficient way”.

“We have the necessary tools to understand which mutations are present and which diseases are associated with these mutations. This knowledge we already have. It remains to accomplish”, considered the CEO of the company, founded in 2012.

This service, accordingly to Ana Catarina Gomes, is recommended “especially to baby and children with symptoms or with any type of familiar historic of genetic diseases”.

The test “demands a preliminary doctor appointment with a geneticist, which will be responsible to evaluate the clinical frame, prescribe the genetic test, and follow the process”, explained the administrator.

“The question of the moment is not “if” or “when”, but yes “how” – how can we bring this knowledge and this technology to people? How can society use this right that is its own genetic information? Is this question we need to address”, said Ana Catarina Gomes.

Accordingly to the more recent statistics, 70% of rare diseases are genetics and they start to manifest in childhood.

From the next wednesday, the company that combines technology with medicine will make available a genetic service for babies, children, and youths for the diagnosis of intellectual disabilities.

Applied “DNA.files INTELLECT”, this technology analyses more than 1250 genes and it “pretends to improve the life quality of these patients and their families”.

To Ana Catarina Gomes, the new service is “with no doubt, the new generation of screenings for genetic diseases that encompass the clinical practice of the future, more focused in the personalisation of healthcare”.