Research led by Stanford's Mike Snyder has inspired a new company, Q Bio, offering genomic and other analyses, and longitudinal tests to track individuals' health.
The company's new strategic direction recognizes that the incorporation of genomics into patients' lives requires engaging other players in the complex healthcare ecosystem.
Mismatch repair-deficient tumors with many insertion-deletion mutations and enhanced microsatellite instability responded better to anti-PD-1 immunotherapy.
The government payor asked the public to specifically weigh in on the evidence supporting germline testing to assess treatment benefit for patients with hereditary cancer syndromes.
Investigators from a variety of clinical sites found that the company's liquid biopsy test was more successful in finding actionable mutations in patients than tumor tissue.
With machine learning and clinical natural language processing, the team has come up with more automated methods to do provisional diagnoses on children with genetic disease.
Researchers plan to compare rapid whole-genome sequencing with standard diagnostic methods in 200 critically ill newborns.
The test is based on RNA sequencing and is used to differentiate between idiopathic pulmonary fibrosis and other lung diseases in order to avoid surgery.
The study researchers further reported that high matching scores predicted both better progression-free and overall survival.
While the study didn't meet its primary endpoint, it showed the potential of transcriptomics to match cancer patients to beneficial treatments.
Concordance numbers and early evidence of clinical impact from a 100-patient first phase were sufficient to expand to another 450 individuals.
Researchers found diagnostically informative single-gene mutations in five of the 19 idiopathic liver diseases cases they assessed with exome sequencing.
Individuals identified as needing homozygous FH evaluation will receive confirmatory genetic testing from Invitae and genetic counseling from Genome Medical.
In the JAMA study, researchers confirmed the previously known clinical and genomic features of NSCLC patients in their large clinico-genomics database.
Efforts highlighted at last week's AACR meeting included new efforts to advance gene expression signatures, improve PD-L1 tests, and calculate MSI across tumor types.
At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.
Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.
A NorthShore University HealthSystem and Color pilot picked up pathogenic variants in nearly 9 percent of unselected individuals with a hereditary cancer gene test.
The test will run on Oxford Nanopore's MinIon and will be used as a reflex test when the standard PCR test does not give a clear answer.
Researchers classified 64 hereditary cancer gene variants with RNA genetic test data, investigating related management changes and potential impacts in other DNA test recipients.
A New Zealand minister says the country's genetic modification laws need to be re-examined to help combat climate change, the New Zealand Herald reports.
A new analysis finds some cancers receive more nonprofit dollars than others.
An Australian mother's conviction in the deaths of her children may be re-examined after finding that two of the children carried a cardiac arrhythmia-linked gene variant.
In Science this week: comparative analysis of sex differences in mammal gene expression, and more.