From a simple saliva sample, DNA.files services screen for actionable disease-causing mutations, provide personalised clinical reports, and enable lifetime uses of genetic data, with great impact on individualized healthcare. CBR Genomics is launching DNAfiles.Baby services at WebSummit 2021.


DNA.files represents a disruptive concept of “Genomics-as-a-Service” for both patients and clinicians. It is developed by CBR Genomics - a MedTech company dedicated to the innovation and development of DNA-based solutions, aiming at bringing them to the everyday clinical practice.

With a unique purpose: to improving people’s quality of life and healthcare outcomes by the ubiquitous use of DNA information as a clinical decision tool. From a simple saliva sample, the 20,000 coding human genes - from newborns up to adulthood – are decoded and analysed using AI-based bioinformatic algorithms, which allow for it automated generation of personalized and easy-to-interpret clinical reports. With this technology, CBR Genomics makes accessible DNA-based solutions to all clinical professionals. Further, the genetic data is stored securely and anonymously for future clinical usages, turning DNA-data a valuable lifelong resource for healthcare management.


According to Ana Catarina Gomes, CEO of CBR Genomics, “everyday, we feel the urgency to bring DNA-data to the wide clinical practice. We are addressing the huge elephant on the room: according to the most recent data, 1 in every 10 children are born with a disease-causing mutation, 1 in every 6 people has a personal risk for an actionable monogenic disorder, and up to 1 in every 10 cancers are hereditary, preventive actions could have saved lives. We are on a mission to bring this to the limelight – as knowing is the only possible action to proactively and preventively safe lives.”


The tipping point for the so needed paradigm change: everyday new scientific studies highlight the importance of screening for genetic diseases, from a prevention perspective.

Recently, in the renowned BMC Medicine journal, American researchers reported that one out of six people has a mutation causing an actionable genetic disease. According to these figures, worldwide, over 1.1 billion people may develop a genetic disease that could be prevented if early detected.


Ana Catarina Gomes states “not to accept early deaths or severe diseases due to fully established genetic conditions, which could be preventable – this is, in my opinion, the failure of the modern medicine.” She is “absolutely convinced that the usage of genetic information can be game changer”.


For one hand, these DNA solutions hold immediate benefits. After DNA sequencing and interpreting, DNA.files can detect disease-causing mutations in hundreds of human genes, even before the first symptoms appear. Apart from being a non-invasive analysis, all the identified conditions are actionable, which means they all have a clinical follow-up or response.

The sooner a disease-causing mutation is detected, the faster the clinical intervention, the greater the chances of preventing or mitigating diseases’ development. Therefore, it is recommended to perform as soon as possible.

On the other hand, DNA.files also hold future benefits. As DNA is immutable from birth, sequencing and storing it are an investment for the entire life. If symptoms suggestive of genetic disease appear meanwhile, as DNA is already sequenced and stored, it can be quickly re-analysed, speeding up diagnosis and treatments.


Newborns and children can benefit from a more comprehensive neonatal screening.

Results from the BabySeq Project, the first clinical trial in the world studying the risks and benefits of DNA screening in newborns, found out that about one out of ten babies had a mutation causing an actionable paediatric disease. Moreover, according to the investigators of the trial, none of the disease risks were anticipated based on the infants’ known clinical family histories.

The current neonatal screening programs are limited to about 15 diseases, on average. Given the advances in DNA sequencing technology, the expansion of neonatal screening for at least 500 genes is already possible.

With this in their mind, CBR Genomics developed DNA.files BABY, a postnatal analysis as a complement to the current heel-prick test, that identifies more than 300 actionable diseases with pediatric onset. The entire process can be performed at home, online - from the medical appointment (by telemedicine) to the kit ordering and the saliva sample collection.


CBR Genomics is expanding the DNA.files catalogue

Future parents, patients with some kind of Intellectual disability, and patients with symptoms suggestive of any genetic disease may also benefit from these novel genetic services soon. The CBR Genomics’ Genetics team is working on the upgrade of the universe DNA.files for other target purposes.



CBR Genomics is a Portuguese company with the mission of making people’s lives better and longer, based on DNA information. The CBR Genomics team believes that, in the future, checking the DNA sequence will be as ubiquitous and accessible as blood testing or X-rays are today. To disrupt the Genomic Medicine paradigm, they develop novel genetic services and rely on a team with highly complementary profiles, merging Medicine with Genetics and IT.



Haverfield et al., Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Medicine, 2021.

Ceyhan-Birsoy, O et al. Interpretation of genomic sequencing results in healthy and ill newborns: Results from the BabySeq Project. American Journal of Human Genetics, 2019.

European Society of Cardiology. 2020 ESC Guidelines on Sports Cardiology and Exercise in Patients with Cardiovascular Disease. European Heart Journal, 2021.

Primorac, et al. Sudden Cardiac Death – a new insight into potentially fatal genetic markers. Frontiers in Medicine, 2021.