Seventy-eight percent of participants had at least one positive carrier screening result and 3.5 percent had a medically actionable secondary finding.
A study of more than 5,000 breast cancer patients found that multi-gene sequencing has rapidly replaced BRCA1/2-only tests, resulting in better pathogenic variant detection but also higher VUS rates.
The pilot builds off the MyCode Community Research Health Initiative, for which Regeneron has been sequencing the exomes of Geisinger participants.
Three vendors applied their variant calling and interpretation pipelines to the same tumor NGS panel data and came up with overlapping but different results.
With all of its 600 nurses trained in genomics competency, the research hospital at NIH wants patient genetic pedigrees available directly in the EMR.
The Hartwig Medical Foundation currently sequences about 7.5 percent of all metastatic cancer biopsies in the Netherlands, processing 250 to 300 samples per month.
Tumor sequencing tests may pick up age-associated mutations called clonal hematopoiesis, a noncancerous phenomenon that can have clinical implications.
The University of Nebraska Medical Center has created a SNOMED-CT and LOINC extension to make a cancer pathology report as "readily presentable as a CBC."
Investigators and commercial firms presenting at the recent AACR meeting highlighted how heterogeneous both the technology and the application of liquid biopsy remains.
The company said it will seek FDA approval for the assay, an expanded version of FoundationACT, as a CDx for targeted therapies and as a tumor mutation profiling assay.
The company said that recent regulatory and reimbursement decisions have been favorable and will help spur adoption of clinical NGS testing.
Since selling GeneInsight to Sunquest, Partners has refocused its genomic informatics innovation on an app-based platform that it plans on making open source.
In a rapidly growing industry where 14 new genetic tests are launched daily, tracking utilization and payment is increasingly difficult, Concert Genetics' report says.
The five-year-old firm recently completed a clinical trial of the real-time PCR-based test, called ProALL-BM, on patients from a European National Registry Study.
Miami-based Nicklaus will send patient blood samples to Rady Children's in San Diego for WGS, bioinformatics analysis, and initial clinical interpretation.
Investigators from several centers outlined tumor features, treatment strategies, and clinical trial classifications coming from tumor-germline clinical sequencing programs.
Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.
A private payor survey by ClearView Healthcare Partners found that medical directors viewed CMS's decision with caution; half had no plans to align commercial plan coverage.
Researchers detected excess genetic risk and/or misclassification when profiling ClinVar variants in ACMG-59 and OrphaNet genes using genome and exome sequences.
The team showed that sequencing can diagnose ill babies faster, leading to better outcomes and saving money by reducing unnecessary treatments and procedures.
With H3Africa, Charles Rotimi has been working to bolster the representation of African participants and African researchers in genomics, Newsweek reports.
NPR reports that government and private insurers are being slow to cover recently approved CAR-T cell therapies.
CNBC reports that there are thousands of genetic tests available for consumers to chose between.
In Nature this week: genomic analysis of ducks, whole-genome doubling among tumor samples, and more.