Clinical impact of front line NGS... | Comparative performance evaluation of the GeneStrat NGS...

Presented By: Bekim Sadikovic, PhD, DABMG, FACMG & Gary Pestano, PhD

Speaker Biography: Dr. Sadikovic’s research interests involve application of genomics technologies to clinical diagnostics with particular focus on development of genomic and epigenomic biomarkers in hereditary and acquired genomic conditions. Dr. Sadikovic serves as the Clinical and Scientific Director of the Verspeeten Clinical Genome Centre, and translational genomics facility which focuses on development and clinical implementation of genomic technologies and biomarkers in care of patients with genomic disorders including hereditary genetic conditions and cancer. The Centre utilizes advanced bioinformatic approaches including machine learning on patient’s clinical and genomics data to novel develop diagnostic tool and technologies. This includes machine learning-based algorithms for diagnosis of hereditary genetic disorders based on patient’s epigenomic profiles called EpiSign.

Dr. Pestano heads the Research and Development organization at Biodesix, a leading diagnostic solutions company. He is also the NYS CLEP Laboratory Director of the company’s corporate clinical testing laboratory in Louisville, Colorado. His greater than 20 years of experience in laboratory and assay development for high complexity molecular diagnostics for oncology includes molecular and proteomic approaches in support of Biodesix Nodify and IQLung blood-based tests. Most recently his work has focused on the detection and standardization of molecular testing for cell free nucleic acids as a part of a consortia led by the Friends of Cancer Research. As a critical part of product development Dr. Pestano has fostered innovative key collaborations with leading academic and industry partners across the globe. Prior to Biodesix, Dr. Pestano was at Ventana, a member of the Roche Group, where he led project teams in Pharma Services and in Assay Development. Dr. Pestano received his Ph.D. training at The Graduate Center, City University of New York and conducted his post-doctoral training in cancer immunology at the Dana Farber Cancer Institute, Harvard Medical School. 

Webinar: Clinical impact of front-line NGS testing in patients with suspected myeloid malignancy
Comparative performance evaluation of the GeneStrat NGS™ liquid biopsy test for the detection of copy number amplifications, fusions/exon skipping, somatic single nucleotide variants and...

Webinar Abstract: Liquid biopsy tests are an integral part of the molecular diagnostic workup of cancer specimens. We have performed extensive validation studies of the GeneStrat NGS test (GSNGS), that uses an NGS panel developed on semiconductor-based sequencing technology. The workflow requires very low input (20 ng) of cell-free nucleic acids and yields results in an average of three business days. GSNGS was validated for the detection of copy number amplifications (CNAs), fusions/exon skipping, somatic single nucleotide variants (SNV) and insertions/deletions (INDELs). Validation specimens included contrived and clinical samples. Dependent on the variant class we used ultrasensitive ddPCR, amplicon-based, and non-amplicon-based panels on multiple NGS platforms as orthogonal methods. All orthogonal technologies utilized the native workflows and analyses pipelines as intended by their manufacturers. We observed concordance with the GSNGS test for SNV and indels of greater than 97.7% with…

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