Sophia Genetics Launches Full CFTR Analysis in Single Clinical Grade NGS Experiment

The CE-IVD marked solution covers the identification and characterisation of all types of variants in a single NGS experiment with clinical grade analytical performance.

Until now, it has not been possible to simultaneously analyse all relevant CFTR variants in a one-step NGS experiment. But Sophia Genetics has made two major breakthroughs, which enable the Sophia Data Driven Medicine (DDM) platform to identify and characterise all types of variants in a single NGS experiment with clinical-grade analytical performance.

First, Sophia Genetics designed and validated a powerful statistical method to reliably and accurately detect Copy-number Variations for clinical diagnostics use. Second, the company designed and validated a unique realignment algorithm to accurately detect variants in the poly(T) and poly(TG) stretches in intron 8 and distinguish between the various combinations of repeat lengths.

By detecting all CFTR types of variants in a single NGS experiment, Sophia Genetics’ customers save the time and cost associated with an additional reflex experiment and an MLPA experiment. Following Sophia Genetics’ Fast Track Validation Program, the NGS-based CFTR test can be moved to routine testing in only one week.

Jurgi Camblong, CEO of Sophia Genetics, said:

“Data Driven Medicine has the potential to transform how we address debilitating congenital diseases, including cystic fibrosis. But for that to happen, clinical laboratories need solutions which can analyse 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.”  

The CE-IVD marked solution running on the Sophia DDM platform helps clinical laboratories to reduce the cost and time of the CFTR analysis and facilitates their ISO 15189 accreditation. As part of its commitment to quality, Sophia Genetics will seek to obtain the CE-IVD mark for each of the genetic tests it supports.

About CE-IVD 

The CE-mark (CE-IVD) indicates that an IVD device complies with the European In Vitro Diagnostics Directive (98/79/EC), and that the device may be legally commercialised and distributed in the EU.

About Sophia Genetics 

Sophia Genetics, a European leader in Data Driven Medicine, brings together expertise in genetics, bioinformatics, machine learning and genomic privacy. Based in Switzerland, we are known for our high medical standards and Swiss precision when it comes to accuracy and quality management. Sophia Genetics offers health professionals who perform clinical genetic testing bioinformatics analysis, quality assurance, and secure banking of patient DNA sequence data generated by NGS. Sophia Genetics helps clinical laboratories to reduce the cost, overcome complexity and fulfil quality constraints related to the use of NGS in the clinic. For more information, visit