In a conference call to discuss Q3 earnings, CEO Francis deSouza discussed NIPT, oncology, population sequencing, and consumer genomics as potential growth drivers.
During the first year of the TRIDENT-2 study, 74,000 women opted for NIPT, which was switched from in-house-developed platforms to Illumina's VeriSeq in May of this year.
At ASHG, researchers described how RNA sequencing can help clarify whether variants are likely to be pathogenic, improving diagnoses of genetic disorders.
The study provided whole-exome diagnostic sequencing for 106 newborns with hearing loss while also offering optional screening results for genes associated with childhood-onset conditions.
The firm plans to conduct a prospective trial of a pan cancer assay and aims to bring another assay focused on colorectal cancer through FDA clearance.
Researchers at ASHG reported on projects studying the potential of implementing on a large scale rapid WGS in NICUs for faster diagnosis of genetic disorders.
Researchers at Memorial Sloan Kettering Cancer Center identified clinically actionable germline mutations in 8.5 percent of about 2,700 unselected lung cancer patients.
The project is informing participants of familial hypercholesterolemia genetic test results, and hereditary breast and ovarian cancer, and Lynch syndrome results will follow.
The prospective, multi-site clinical trial will evaluate the clinical utility of unbiased sequencing for identifying pathogens in suspected CNS infections.
Researchers found that diagnostic autism NGS panels offered by 21 clinical labs have very little overlap and are working to create a standardized gene list.
Ariel's laboratory-developed test analyzes 13 genes linked to pancreatitis, and the results are integrated into its new clinical decision support tool.
Already, public health organizations in the UK, the Netherlands, and New York state are moving toward implementing NGS for tuberculosis drug susceptibility testing.
Rady Children's will provide rapid WGS as a first-line diagnostic test for newborns in the intensive care unit at four participating hospitals in California.
