The year brought more FDA approvals for molecularly targeted drugs and NGS tests for personalizing cancer treatment, but reimbursement remained a stress point for industry.
With computing infrastructure in place, Nationwide Children's Hospital's Institute for Genomic Medicine is giving clinicians new tools for diagnosis and treatment.
As long-read sequencing and genome mapping technologies improve, researchers have begun using them in the clinic to identify once undetectable structural variants.
The investment bank said that it thinks 2018 will be a good year for clinical sequencing and that overall demand for high-throughput sequencing remains high.
As more people have their genomes sequenced, some researchers seek to enable mechanisms for genome data donation, similar to organ and tissue donation.
Some industry players are accusing CMS of advancing backdoor LDT regulation by proposing to cover NGS tests with FDA approval/clearance, except in a limited setting.
In an initial project, the research team is sequencing esophageal tumor genomes of patients in Tanzania, where it is one of the most common cancers.
A Baylor study compared 25 algorithms in terms of their ability to characterize missense variants and found significant disagreement in their predictions.
In a pilot study of 92 individuals with familial or suspected genetic chronic kidney disease, researchers successfully diagnosed 24 percent of cases with exome sequencing.
The FDA approved FoundationOne CDx and the Centers for Medicare and Medicaid Services concurrently issued a proposed national coverage decision for the test.
Payors' demands for clinical utility evidence can be met through greater use of databases and registries, Harold Varmus and Rebecca Eisenberg said.
Attendees at the recent AMP meeting grappled with issues brought to light in a lawsuit regarding the alleged negligent misclassification of a patient's genetic variant.
The authorization implements regulatory strategies the FDA advanced with industry stakeholders, though labs may still be more inclined to take the CLIA route, as long as it is available.
The sequencing-based, laboratory-developed test, called SmartJane, contains the first commercially available vaginal microbiome assay.
Researchers are now using the approach to allow genome-wide sequencing to monitor disease and to investigate treatment response and resistance without the need for tissue biopsy.
The partnership combines sequencing with phenotype information to help diagnose patients with rare diseases.
Pathoquest will compare its iDtect blood test with standard testing methods to identify microbes causing infections in patients with febrile neutropenia.
Fulgent missed the consensus Wall Street estimates on the top and bottom lines. Its CEO said the firm continues to invest in technology and in streamlining its operations.
The new agreement between the two companies commits to expanding the clinical genetic testing market in Turkey and is part of a global expansion for BGI.
The agency is excluding certain advanced diagnostic lab tests and molecular pathology tests from a billing regulation that created administrative headaches for many labs.
An opinion piece in the Guardian argues that President Donald Trump is uninterested in science and that might not be a bad thing for the field.
The San Francisco Chronicle reports the Veterans Affairs Health System is studying whether genetic testing can help prescribe better depression therapies.
Stat News reports that Spark Therapeutics' Luxturna is now being used to treat a wider array of patients.
In Genome Biology this week: transcription factor use among brittle stars, single-cell RNA sequencing strategy, and more.