Topic: Industry Insight

Did you catch the PerkinElmer Genomics' webinar on their new CNGnome test using NxClinical for analysis & interpretation?

Using a combination of genomic sequencing technologies and bioinformatic tools, PerkinElmer Genomics is paving the way to replace traditional microarray analyses for constitutional genomics with NGS. Dr. Alka Chaubey, PerkinElmer Genomics, presented development and validation of the new CNGnome™ Test and comparison to traditional CMA. Dr. Chaubey also discusses how NxClinical was selected for use with their new assay and shows how the software was invaluable in the interpretation process.

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.

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.

BioDiscovery and Thermo Fisher Scientific Sign OEM Partnership

Recently, BioDiscovery signed an OEM partnership deal with Thermo Fisher Scientific for analysis software for the OncoScan Assay. The partnership allows the two companies to merge their expertise in high-throughput genomic data analysis software and array based assays for the cancer genomics market. BioDiscovery developed Nexus Express for OncoScan software for Thermo Fisher's OncoScan CNV Assay for solid tumor analysis.

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.

Cancer statistics in males and females

The US cancer statistics for 2017 were published early this year. Cancer statistics comparison between males and females seems to be the most interesting one.

Join us at ASHG 2017!

Going to ASHG next week? Join us to learn more from clinical experts on the movement towards a single NGS assay and integrated analysis, visualization, and interpretation of genomic variants. We have a great roster of speakers lined up and you can get a sneak peek at the new NxClinical 4.0 software, so don’t miss this event.

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 Filed using Nexus Copy Number – for Canine Cancer Diagnosis

Dr. Breen of North Carolina State University has been a long time user of our Nexus Copy Number software and we were pleased to learn of his application of his latest patent: a new, non-invasive method of diagnosing bladder cancer in dogs.