Monica Heger tracks trends in next-generation sequencing for research and clinical applications for GenomeWeb.
The company outlined its plans to launch a kidney transplant rejection test that is based on cell-free DNA in 2019 and described its progress in breast cancer research.
The researchers designed a transcriptome sequencing assay that identifies clinically relevant gene fusions in 541 genes.
Diagnostic WGS will be centralized and performed at the same Genomics England facility used in the 100,000 Genomes Project.
Using a protocol developed at the University of Oxford, the researchers hope that nanopore sequencing can aid diagnosis and drug resistance profiling in remote areas.
The study demonstrates that Veracyte's new test improves upon an earlier version in its ability to identify thyroid nodules that are likely to be benign.
The NGS-based test improves on a previous PCR-based version and detects circulating DNA from Epstein Barr virus that is shed from cancer cells.
The firm said it would likely do a joint submission of its ctDNA assay to the FDA and CMS for approval and a national coverage determination.
The pilot builds off the MyCode Community Research Health Initiative, for which Regeneron has been sequencing the exomes of Geisinger participants.
The company offers a range of exome-based tests that include both diagnostic tests for rare disease as well as disease-risk screening for asymptomatic adults.
Tumor sequencing tests may pick up age-associated mutations called clonal hematopoiesis, a noncancerous phenomenon that can have clinical implications.