MAY 2022LIFE SCIENCES REVIEW 19As CBR Genomics ensures that the DNA is sequenced once, and the obtained genetic data is stored for life as well as reused whenever clinically needed, the company charges a once-in-a-lifetime cost for genetic analysis. This enables clients to operationalize their high resolution and coverage WES, and then focus on the strategy for their clinical practice and their patient's needs. So, the importance is not on sequencing strategies but rather on NGS data usage and clinical applications of the sequencing output. The Unique DNA Analysis MethodologyCBR Genomics' best clinical case comes from its first project, where it carried out the proof of concept of its technology and approach. This was in a straight articulation with the Genetics Departments of the University of Coimbra's Hospitals.CBR Genomics was able to deliver a diagnosis to 28 patients with Intellectual Disabilities (corresponding to an almost 50 percent diagnostic rate), most of them were waiting for a diagnosis for more than five years. Within this cohort, there was a 20-year-old male (the oldest patient) who had symptoms of some sort of Intellectual Disability. However, his molecular diagnosis remained inconclusive for more than 15 years, even after numerous clinical exams and tremendous efforts from his family and his physicians. When his paediatrician asked his parents about the possibility of the young boy participating in our proof of concept, the mother was very reticent: "He has been involved in so many studies, from all over - United States, France, England... how sure are you that this will finally solve his diagnosis?"This 20-year-old patient was included, and CBR Genomics was able to identify a new pathogenic variant for the well-known Angelman Syndrome. The patient had a 5-year-old brother with ID symptoms who underwent the same DNA analysis and was immediately diagnosed with the same disease. This diagnosis allowed to immediately invest in the most appropriate complementary therapies for this disease, namely physiotherapy, speech therapy, and hydrotherapy.This scientific research enabled the validation of CBR Genomics' unique DNA analysis methodology, which they apply to all its DNA.files genetic services. "We refuse to accept delayed diagnosis of well genetically characterized (not so) rare diseases, severe diseases, or even early deaths or severe diseases due to fully established genetic conditions, which could be early intervened or even preventable," concludes Ana. We refuse to accept delayed diagnosis of well genetically characterized (not so) rare diseases, severe diseases, or even early deaths or severe diseases due to fully established genetic conditions, which could be early intervened or even preventable
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