Portuguese Start-Up Kicks Off Genetic Test That Detects Diseases In Babies Using Saliva

The solution was created by CBR Genomics, a company based in Cantanhede — Coimbra, already available on the market. Medical screening is performed by sequencing all genes.

CBR Genomics, a Portuguese start-up in the health sector, launches this Wednesday, June 1, a new genetic test aimed exclusively for babies and children. By extracting a small sample of saliva from the cheek, it will be possible to analyse about 300 paediatric diseases. CEO of the company Ana Catarina Gomes claims "this solution will accelerate the paradigm shift in health care, since the information presented in the child's DNA can be used as a tool to support the clinical decision, at a very early stage of symptoms".

Screening diseases in babies is nothing new: every year, thousands of newborns have their bloodspot test in order to detect about 30 paediatric diseases. With CBR Genomics solution – DNA.files BABY – there’s a wider range of diseases to be detected. Early screening enables the early detection of genetic alterations which allows preventive action for the diseases. Currently, one in every 10 children has a mutation associated with a paediatric disease.

The process is simple: after extracting the saliva sample from the side of the cheek — in a painless and non-invasive manner — the team of professionals sequences the DNA and analyses 500 genes associated with about 300 diseases. Then, the medical report is available in three to four month and, if a diagnosis is confirmed, the screening diseases will have a follow-up and clinical response.

“Today we’re able to sequence DNA in a quick and efficient way. We have the necessary tools to understand what mutations may be present and which diseases are associated with those mutations. We already have this kind of knowledge – we just need to make it happen”, notes Ana Catarina Gomes. The service is recommended mainly for babies and children who are symptomatic or have a family history of genetic diseases. The test also requires a preliminary consultation with a geneticist, who will be responsible for evaluating the clinical status, prescribe the genetic test and monitors the whole process.

“The question isn’t 'what if' or 'when', but 'how': how are we going to bring this know-how and technology to people. How can society use this right, that is having the access to its genetic information. That’s what we need to focus on.” According to the most recent statistics, 70% of rare diseases are genetic and manifest in childhood.

Solution for diagnosing intellectual deficit also hits the market

The Portuguese company will provide, on the same date, a genetic service for babies, children and young people with any type of intellectual deficit and no conclusive diagnosis. DNA.files INTELLECT analyses more than 1,250 genes, and aims to improve the quality of life of these patients and their families. For CBR Genomic’s CEO, “this is, with no doubt, the new generation of genetic diseases screening that underpins the clinical practise of the future, increasingly focused on the personalisation of care”.