2014: A Year of Clinical Next Generation Sequencing

Although some scientists remain skeptical about the use of next generation sequencing (NGS) technology in the clinical diagnostics arena, the past year shows a steady advance in the use of this technology in clinical laboratories.

In January, the Massachusetts General Hospital (MGH) Center for Integrated Diagnostics in Boston announced that it was routinely profiling patient tumors with advanced molecular assays. The MGH had recently launched a novel targeted RNA-seq next-generation sequencing assay for clinical detection of gene fusions for ALK, RET, and ROS1; targets that are particularly important for patients with lung adenocarcinoma, for which there is the FDA-approved crizotinib inhibitor that has been demonstrated to be effective.

In April, PathGroup, a provider of pathology services in the US, announced the launch of the SmartGenomics™ Heme Profile. The profile includes NGS of 77 clinically actionable genes mutated in hematolymphoid cancers; providing genomic profiling and information for patients that have failed or been unsuccessful on repeated therapy for the group of cancers that include leukemias, lymphomas and myeloproliferative/myelodysplastic diseases.

In September, LabCorp® announced the launch of Enlighten Health Genomics; a business designed specifically to build on the diagnostic potential of NGS technology. The new service offers state–of-the-art diagnostic capabilities, NGS analysis and interpretation, and informed genetic counseling. The initiative is aimed at reducing medical costs and improving patient outcomes.

In the same month, Sophia Genetics became the first European company to obtain a CE-IVD mark for the clinical use of a Next Generation Sequencing (NGS) bioinformatic pipeline for routine genetic testing; and researchers developed a new metagenomic DNA sequencing method to diagnose tuberculosis on the Illumina MiSeq.

In October, the Life Technologies branch of Thermo Fisher Scientific announced that its Ion PGM Dx NGS System had been CE-Marked for IVD use in European countries. The system uses Ion Torrent NGS technology and is validated using a number of challenging germline variants, with library kits based on the trusted Ion AmpliSeq technology.

Finally, in November, Vela Diagnostics announced the launch of the first CE-IVD NGS Oncology Panel for melanoma testing. The Sentosa® SQ Melanoma Panel simultaneously detects 127 hot spot mutations and sequence variants, the panel is run on the automated Sentosa® NGS system.

There are still many challenges to be faced in bringing NGS to the routine diagnostic laboratory, but this last year has shown that great strides are being made in making advanced sequencing technology a viable reality.