A St. Jude Children's Research Hospital-led team found BRCA2 mutations are more common among survivors of non-Hodgkin lymphoma than individuals without cancer.
Rhythm has a drug called setmelanotide in Phase III development for genetic obesity disorders associated with variants within the melanocortin-4 pathway.
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.
Last month, the Cyprus-based genetic diagnostics company launched a number of hereditary cancer and somatic tumor sequencing panels, its first tests for oncology.
With funding from the Bill and Melinda Gates Foundation, the Biohub will help implement metagenomic sequencing for infectious disease projects in 10 countries.
Reanalyzing clinical exomes from 2011 to 2013 increased molecular diagnostic yields significantly, leading to clinical management changes, in some cases.
The center will use Qiagen Clinical Insight to analyze, interpret, and report molecular screening of cancer patients to help identify targeted therapies and clinical trial options.
Patients who enroll will have their samples tested as part of routine diagnostic care, making it easier for them to take part in clinical trials without additional testing.
Scientists from the UK and China discussed two new NIPTs that include single-gene disorders and a study to estimate disease recurrence risk in families.
The team is now conducting additional studies of mNGS in plasma, as well as looking to reduce turnaround time by running the test on a nanopore sequencer.
Consenting participants will have their deidentified sequence data used for research and will also have the chance to learn if they have clinically actionable results.
Variantyx, a 2014 spinout from Tel Aviv University that is based in Framingham, Massachusetts, provides clinical genomic testing for screening and rare disease diagnostics.
The company has formalized an existing relationship by acquiring Pharmatech, hoping to directly integrate the firm's "right on time" trial matching service with its own molecular testing.
Tissue-agnostic drug development approaches have their own set of scientific and financial considerations, but some drugmakers are taking on those challenges.
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.
In Science journals this week: a functional genomic screen uncovers drug combination that increases KRAS inhibitor efficacy in aggressive lung cancer, and more.
