First Full CFTR Analysis in Single Clinical Grade NGS Experiment Launched

Patrícia Silva, PhD avatar

by Patrícia Silva, PhD |

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CF research for Pseudomonas Aeruginosa

European leader in Data Driven Medicine, Sophia Genetics, has just launched a first-of-its-kind cystic fibrosis transmembrane conductance regulator (CFTR) in vitro diagnostic (IVD) solution, which will allow doctors to conduct complete CF studies in one next-generation sequencing trial.

By providing a complete study of CFTR variants in a single NGS experiment, the company’s clients will be able to save time and money compared to having to perform an additional reflex and MLPA experiment. After the company’s Fast Track Validation Program, this new CFTR test can be incorporated in routine testing within a week.

“Data Driven Medicine has the potential to transform how we address debilitating congenital diseases, including cystic fibrosis,” said Jurgi Camblong, CEO of Sophia Genetics. “But for that to happen, clinical laboratories need solutions which can analyze the data produced by NGS sequencing to a clinical standard. At Sophia Genetics, we are committed to setting the gold standard for NGS data analysis and making clinical diagnosis much simpler, faster and easier for our lab customers.”

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This is the first time researchers would be able to simultaneously test all relevant CFTR variations in one try. The company has successfully enabled their Data Driven Medicine (DDM) to pinpoint and characterize these variants with clinical-grade analytical performance.

Cystic fibrosis is a genetic disorder that affects the lungs and digestive tract, and causes a build-up of abnormally thick mucus. It has been estimated that 1 in 29 caucasians in the United States carry the CF gene, and most children are diagnosed by the time they are 2 years old.

In other recent CF innovations, the Hemolung Respiratory Assist System (RAS) is dialysis-like alternative or supplement to mechanical ventilation. It was invented in Pittsburgh, and has not yet gained US FDA approval, but may soon become available thanks to the favorable results on an American terminal CF patient who rejected transplanted lungs.