Topic: Clinical

Significant Cost Savings with Single NGS Test vs. Other Strategies

At the American Society of Clinical Oncology (ASCO) meeting last month, Dr. Nathan Pennell, Director of the Lung Cancer Medical Oncology Program at the Cleveland Clinic, and his colleagues presented cost analysis in a model with different types of genetics testing in metastatic non-small cell lung cancer (mNSCLC). The team showed that upfront NGS leads to significant cost savings vs. sequential single-gene testing modalities.

Does reanalysis improve diagnostic yield?

A recent paper on the project shared results from a reanalysis in 2017 of the initial 1133 children using new knowledge and findings that have accumulated since the initial analysis. The pace at which improvements in genomic data technologies, analysis, and knowledge are moving, the group hypothesized that it is likely that diagnostic yield would increase via the reanalysis. They sought to determine how much of an improvement can be made over time.

NxClinical February track updates

Post ExcerptThis week many new tracks were added to the NxClinical track auto-update system. Below is a detailed description of what was added. CIViC – CIViC is an open access, open source, community-driven web resource for Clinical Interpretation of Variants in Cancer.

Paper Review: Detection of copy number alterations in cell-free tumor DNA from plasma

Liquid Biopsy, the detection of circulating tumor DNA in peripheral blood, has been a hot topic in cancer and will keep its momentum in the foreseeable future.

Back from China with a Partnership with Be Creative

BioDiscovery inked a deal with Be Creative Lab (Beijing) Co. Ltd. where Be Creative will be the sole reseller and distributor of BioDiscovery products in China. Be Creative is a clinical genetic testing center in Beijing, China, providing diagnostic support for a number of hospitals. Be Creative debuted NxClinical 4.0 at the Clinical Applications Conference which focused on comprehensive application of SNP-Array, NGS and other technology platforms to enhance clinical diagnostics. The conference, hosted by Be Creative, brought together 200 clinical genetics experts.

Combined CNV and SNV detection from NGS panels in a clinical setting – a single test system is within reach!

Dr. Darine Villela and colleagues in Dr. Carla Rosenber's lab at the University of Sau Paulo, Brazil sought to find an integrated solution to combine two tests into one – one that was cost effective and easy to adopt in a clinical setting. They noted that there are several tools for CNV analysis from sequencing data, but the homemade tools are designed for a specific pipeline, are not user-friendly and require a high degree of bioinformatics expertise. They knew they needed a solution that would be easy to implement in a clinical lab and chose a commercial target enrichment kit and BioDiscovery’s Nexus Copy Number for analysis.

Cancer Liquid Biopsy Gains Momentum

Cancer screening for circulating tumor DNA (ctDNA) in the bloodstream, Liquid Biopsy, is a fast growing market.

Labs Meeting a Minimum Standard of Data Sharing Identified by ClinGen

To further enhance quality assurance, ClinGen now puts forth a list of clinical laboratories that meet minimum requirements for data sharing.

Patent application for methods for prognosticating brain tumors uses Nexus Copy Number and TCGA Premier

Cedar Sinai Medical Center in Los Angeles, CA has filed a patent for a method for prognosticating patient survival based on the ZEB1 gene. The application also describes methods for selecting therapies based on analysis of ZEB1 and several other genes.

Recent Advances in Clinical Genetics Uncovered Causative Alterations for Several Rare Diseases

Research advances in clinical genetics recently uncovered the causative alterations for several rare diseases. Evaluate your clinical samples with ease for copy number alteration, sequence variants or both using NxClinical 3.0.