Next-generation sequencing for routine clinical diagnostics

Swiss data-driven medicine (DDM) company Sophia Genetics has announced a strategic partnership with US biotech company Integrated DNA Technologies (IDT). The partnership is intended to help hospitals address their need to adopt next-generation sequencing (NGS) tests for routine clinical diagnostics.

The agreement will see Sophia Genetics combine its Sophia DDM analytics platform with IDT’s xGen hybridisation-based target enrichment panels. This results in the creation of an NGS target capture system with good analytical performance, flexibility for gene panel composition and high sample throughput.

The NGS bundles will help Sophia Genetics address the needs of European hospitals that are moving from small panels (1–20 genes) to medium panels (21–200 genes). They will be available immediately to more than 120 hospitals currently using the Sophia DDM platform.

“The NGS bundle solutions are a true game changer for hospitals, relieving them of the burden of testing multiple NGS enrichment technologies,” said Sophia Genetics CEO and founder Jurgi Camblong.

“Having evaluated a large number of DNA enrichment technologies, we can now offer hospitals validated solutions that combine best-in-class target enrichment products with our advanced machine-learning based analytics. This will simplify validation of future NGS tests to meet hospitals’ needs for high-quality diagnostics.”

The first bundle solution to be launched will be used for diagnosis of hereditary cancers, such as breast, ovarian and colon cancers. Future solutions will target leukaemia and cardiac disease.