Validation results presented at the Association for Molecular Pathology meeting demonstrate that the test can be implemented clinically, replacing existing FISH and PCR assays.
The workgroup wanted to address the problem of variability in how bioinformatics pipelines are validated in order to improve the accuracy of NGS tests.
A partnership involving Heidelberg University Hospital, the National Center for Tumor Diseases, and the German Cancer Research Institute is serving patients across Germany.
The study was conducted by the European Molecular Genetics Quality Network and its partners, and involved 227 labs for germline testing and 76 for somatic testing.
In an AMP Global presentation, Danish Cancer Society Research Center scientists used the test to study urine samples from individuals who developed bladder cancer up to 15 years later.
Groups from Austria, Spain, Germany, and the US demonstrated that the GeneReader can reliably detect cancer mutations in tissue and liquid biopsy samples.
Eleven laboratories that are part of Thermo's OncoNetwork Consortium tested the Oncomine Lung cfDNA assay on reference samples.
The groups said they hope their recommendations lead to higher-quality sequencing results in the lab and better care for cancer patients in the clinic.
The guidance includes recommendations for extended RAS mutation testing to guide anti-EGFR therapy, as well as updated endorsements for analysis of mismatch repair status.
The recommendations were developed by a working group of the AMP Clinical Practice Committee that included representatives from ACMG, ASCO, and CAP.
The New York Times profiles 23andMe's Anne Wojcicki and describes how she bounced back from a bad year.
Fotis Kafatos, the founding president of the European Research Council, has died, according to the Associated Press.
In PLOS this week: genomic analysis of honeybee disease, microRNA profiles of people with lupus nephritis, and more.
The Verge's Angela Chen tried out a gene test for fitness advice, but didn't learn much new information.