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.

Heritable retinal dystrophies - trio analysis in NxClinical

A recent NxClinical case study features familial and trio analysis of a patient population in Costa Rica. Dr. Daynna Wolff, Director, Clinical Cytogenetics and Genomics, Medical University of South Carolina used NxClinical for integrative analysis of copy number, sequence variants, and autozygosity mapping to study 31 affected children from 23 Costa Rican families.

Chatting with Dr. Ingrid Simonic about Consolidation of Multiple Testing Strategies

Recently we spoke with Dr. Ingrid Simonic, Deputy Director, Medical Genetics Laboratories, Cambridge University Hospitals, about the current stage of testing strategies, in particular the workflow at her hospital. She discussed how they perform many tests at the hospital and not necessarily because there are that many patients but that several tests are performed per patient.

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

A recent Science article, "Phenotype risk scores identify patients with unrecognized Mendelian disease patterns", from Vanderbilt University Medical Center leverages the phenotypic patterns of Mendelian diseases to detect rare-variant associations and finds that most of the individuals with statistically significant variants were undiagnosed with the target Mendelian disease.

The inaugural Southern California Regional Clinical Cytogenetics & Molecular Genetics Meeting was a great success!

Over a dozen of Southern California's finest Cytogenesis and Molecular genesis came together to discuss latest developments, share experiences and information, and help overcome challenges. This proved to be a breeding ground for new ideas, collaborations, and learning.

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.

ASHG workshop videos

We had a great workshop at ASHG a few months ago. If you were not at the meeting or missed our workshop, you can still view our guest presenters' talks. We launched NxClinical 4.0 at the conference and prior to that we had some customers who got the chance to use it via our Early Access Program. A few of those users share their experiences in using NxClinical 4.0 specifically in the area of combining analysis and interpretation of CNV, SNV, and allelic events within a single software framework where copy number is derived from NGS data.

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.

Happy 2018 - the year of the single NGS assay approach

Happy 2018! 2017 saw a renewed interest in copy number analysis particularly from NGS data and I think it's going to be a key topic in 2018. The ability to obtain copy number from the same assay as that used for SNVs is an important topic among genetics labs. Clinicians are now starting to realize the major benefits in consolidating tests to a single NGS assay analyzed on a single software system.