As NGS testing becomes more widespread, labs, payors, and professional groups confront questions about which genes should be required as part of clinical assays.
An international team documented TP53 mutation-related genomic changes across dozens of cancer types using data generated with five platforms for the Cancer Genome Atlas project.
At a real-world data workshop, Wendy Rubinstein said that labs have a responsibility under the 21st Century Cures Act to facilitate integration of genomic data into EHRs.
Investigators pooled older and new data from the Prospective Lynch Syndrome Database, tracking outcomes for different mutations across age and gender groups.
A Personalized Medicine Coalition-funded study has found that NGS-based testing is moderately cost effective but that access to targeted treatments remains a hurdle.
Researchers tracked down monogenic risk variants, carriers, disease culprits, and more for 50 individuals with cardiomyopathy and 50 unaffected participants.
Presentations at this month's ASCO meeting demonstrated how efforts are advancing to determine when and how longitudinal ctDNA testing will be useful for oncologists.
An Australian team developed a decision model for testing asymptomatic relatives of patients with dilated cardiomyopathy to assess the cost effectiveness of testing.
The organizations provided a list of genes they believe are informative in treatment of myeloid disorders and suggested several changes to the coverage policy.
Reanalyzing clinical exomes from 2011 to 2013 increased molecular diagnostic yields significantly, leading to clinical management changes, in some cases.
Combined DNA/RNA-seq efforts in various settings could lead to new ways of treating kids with drugs meant for adults or to the development of new therapies.
CPIC wants to issue guidelines for non-actionable genes, standardize PGx terms, and work with groups like ClinGen and ClinVar to expand use of its guidelines.
The researchers found differences in mutational patterns among their African-American patients and that liquid biopsies seem to catch metastases early.
The firm is in the midst of a clinical trial called NOVA to compare its circulating-tumor DNA-based Colvera test to DiaSorin's carcinoembryonic antigen assay.
Color researchers reported that 21.7 percent of individuals with pathogenic variants in well-established genes did not meet guidelines for testing.
The organization continues to support direct access genetic testing for healthcare decision making, while remaining neutral on recreational, novelty, lifestyle, and ancestry genetic testing.
In almost 1,000 twin pregnancies with known outcomes, cell-free DNA screening of maternal blood correctly classified trisomy 21 cases 94 percent of the time.
In patients with a range of rare diseases, RNA sequencing in blood had a 7.5 percent diagnostic rate and identified candidate genes in 16.7 percent of cases.
Investigators concluded that the spiked samples from SeraCare were a robust tool for inter-lab comparisons and discussed some areas of discordance seen in the study.
The team sequenced more than 2,200 Saudi families to find the likely source of genetic disease in about 43 percent of cases.
NPR says the explosion and fire earlier this week at a Russian lab that stores dangerous pathogens revives the question of whether such samples should be kept.
According to Wired, Nebula Genomics is providing a way for people to get their genomes sequenced anonymously.
A 26-year-old woman tells Cosmopolitan about learning her APOE status at a young age.
In Science journals this week: a functional genomic screen uncovers drug combination that increases KRAS inhibitor efficacy in aggressive lung cancer, and more.