A Portuguese medical technology company will tomorrow (1st of June), launch its new “unprecedented and innovative” solution which will make it possible to detect up to 300 diseases in babies and children from a simple saliva sample.
The company, CBR Genomics, located in Cantanhede, district of Coimbra, explained that the new genetic test is intended exclusively for babies and children and consists of a screening carried out through gene sequencing, and that from a small sample of saliva taken from the cheek, it is possible to screen for a large proportion of pediatric diseases.
Ana Catarina Gomes, CEO of CBR Genomics, stressed that the new solution accelerates the paradigm shift in health care, since the information contained in the child’s DNA can be used as a clinical decision support tool, at a very early stage of symptomatology. She went on to say that baby screening is nothing new, and every year thousands of babies undergo a heel prick test which allows specialists to detect about thirty-six common infant diseases. However, this new method means that they will be able to detect ten times as many.
Currently, one in ten children has a mutation associated with a pediatric disease, and with the DNA sequencing analysing 500 specific genes, a medical report of the child will be made available within three to four months which will allow for diagnosis, for pathologies to be tracked and for the provision of immediate healthcare and treatment
This service, according to Ana Catarina Gomes, is recommended mainly for symptomatic babies and children, or those born into families with a history of genetic diseases.
Carrying out the test still requires a preliminary consultation with a geneticist, who will be responsible for evaluating the clinical picture, prescribing the genetic test and monitoring the process. And the question, says Ana Catarina Gomes, is not ‘if’ or ‘when’, but ‘how’: how are we going to bring this knowledge and technology to people. How society can enjoy their right to genetic information. This is what we need to focus on.
Today, about 70% of rare diseases are genetic, and manifest in childhood.
Furthermore, as of tomorrow, the company will be providing a genetic service for babies, children and young people which will diagnosis learning difficulties. Nicknamed “DNA.files INTELLECT,” the new technology will analyse more than 1,250 genes, and intends to improve the quality of life of those affected and their families.
For Ana Catarina Gomes, the new service is, undoubtedly, the new generation of screening for genetic diseases that will underpin the clinical practice of the future, increasingly the focus on personalised healthcare.
Samantha Gannon
info at madeira-weekly.com
