Short Course 18: NEXT GENERATION SEQUENCING AS A DIAGNOSTICS PLATFORM.
Jamie L. Platt, PhD. Vice President, Genomic Solutions. Advanced sequencing technologies are highly dependent on bioinformatics tools and appropriate interpretation. In addition to applying the optimized bioinformatic algorithms with specific, validated thresholds, transforming the data into clinically useful information requires appropriate annotation. The application typically dictates the knowledge base of choice as well as the clinical interpretation. Selecting or building the appropriate bioinformatics, annotation solutions and clinical interpretation are challenges for commercial clinical labs that will be discussed within the context of Genomics, Genetics, and RNA-Seq.
Discussion Group: NGS Assay Development and Validation Tues March 8th 5:00pm.
Led by Jamie L. Platt, PhD. Vice President, Genomic Solutions. Jamie will discuss NGS clinical test requirements – panels vs exomes/genomes; Development and validation of germline clinical NGS tests; Development and validation of somatic clinical NGS tests.
Clinical Diagnostics Development, NGS and Genomic Markers.
Chairperson for stream Jamie Platt, PhD. Vice President Genomic Solutions.
Beyond Technology: Bridging Genomics Gaps to Drive Paradigm Shifts in Clinical Research and Reference Laboratories. Presented by Jamie Platt, Ph.D. Vice President Genomic Solutions. Register for event with ThermoFIsher
Clinical Trial Services in the Molecular Diagnostics Laboratory: A Blended Business Model for Revenue Diversification. Nicholas T. Potter, Ph.D., FACMG, Executive Vice President of Clinical Affairs, Molecular Pathology Laboratory Network, Inc.
Molecular testing has been the most rapidly growing segment of the laboratory industry for nearly a decade, yet achieving profitability for these high-cost, high-value tests remains a challenge. Learn how your laboratory can make the most of molecular diagnostics and the evolving technologies of genomic medicine through an in-depth look at a partnership model pioneered by Molecular Pathology Laboratory Network. This case study will discuss the opportunities for laboratories to take on clinical trial work and the role of this contract work in diversifying revenue and providing financial stability
Bridging the Gaps in Precision Medicine through NGS in Pharma and Clinical Diagnostics. Jamie Platt Vice President, Genomic Solutions Molecular Pathology Laboratory Network
Thermofisher Ion Torrent Applications and Innovations Tour 2015
University of Tennessee Health Science Center Memphis TN. Sep 10th.
Atlanta GA. Sep 17th.
Targeted Gene Panels for Oncology Research. Presented by Jamie Platt, Ph.D. Vice President Genomic Solutions.
SC7. NGS AS A DIAGNOSTICS PLATFORM. Part One: How Multi-Gene Panel and Exome Testing are Becoming New Diagnostic Standards for Inherited Disorders. Jamie Platt, Ph.D., CGMBS, MB(ASCP), Vice President, Genomics Solutions, Molecular Pathology Laboratory Network, Inc.
Part One of the Short Course will review basic advanced sequencing landscape and examine trends in assay development, technology guidelines and opportunities for supporting methodologies and technologies. The opportunities for clinical diagnostics and clinical trials will be highlighted with the specific requirements for each of these areas outlined from the diagnostic laboratory perspective. Insights into different types of clinical diagnostics laboratories will be dissected to provide participants with a more granular understanding of the NGS clinical diagnostic market. Opportunities in the changing regulatory landscape will also be discussed to provide labs and vendors with special insight into potential future solutions.
NGS ANNOTATION IN GENOMICS, GENETICS, AND RNA-SEQ. The NGS Annotation Landscape for Genomics, Genetics, and RNA-Seq: Current Challenges for Commercial Clinical Labs. Jamie L. Platt, Ph.D., Vice President, Genomic Solutions, Geneuity
Advanced sequencing technologies are highly dependent on bioinformatics tools and appropriate interpretation. In addition to applying the optimized bioinformatic algorithms with specific, validated thresholds, transforming the data into clinically useful information requires appropriate annotation. The application typically dictates the knowledge base of choice as well as the clinical interpretation. Selecting or building the appropriate bioinformatics, annotation solutions and clinical interpretation are challenges for commercial clinical labs that will be discussed within the context of Genomics, Genetics, and RNA-Seq.
RainDance User Group Meeting in conjunction with the Festival of Genomics June 22 2015
New User Experience: Validating the RainDrop and ThunderBolts Systems
San Diego illumina Medical Genomics Summit June 7th 2015
From LDTs to NGS IVD Systems, A Customer’s Perspective
Biomarkers and Diagnostics World Congress May 7th 2015
Opportunities and Challenges for NGS-Based Clinical Trials. Jamie L. Platt, Ph.D., Vice President, Genomic Solutions, Geneuity (an MPLN company)
The requirements and challenges for NGS-based diagnostics are different from those for NGS-based clinical trials. The evolving technology and regulatory landscapes present increased opportunity for utilizing NGS in clinical trials; however, a thorough understanding of workflow challenges, technical limitations and data analysis is required for optimal success. The key challenges in NGS-based clinical trials will be discussed, and opportunities around assay validation, companion diagnostics, data analysis, genomic annotation and supporting services will be highlighted.
Molecular Dx. Europe April 13th 2015
Molecular Med Tri-Con 2015. Feb 11th. Biospecimen Science and Sample Prep
NGS-Based Clinical Assays: Building Castles in the Air. Jamie L. Platt, Ph.D.,
FDA-Approved Versus LDT-Based NGS Systems: Preanalytical Issues and Validation
PANEL DISCUSSION: Comparing Major NGS Instruments: Technical Differences, Application Preferences
- While applying NGS in the clinical setting may seem like “building castles in the air” to some, the utility of NGS assays can be enormous when built on a strong foundation. The foundation of sample prep will readily prove the validity of “garbage in, garbage out”. Examples of sample prep issues from commercially available NGS tests will be introduced.
- As NGS technologies have matured and their utility in clinical diagnostics has been embraced, the evolution of RUO-based Laboratory Developed Processes (LDPs) to FDA-Cleared In Vitro Diagnostic Tests has followed. The major considerations around Preanalytical issues for these two categories of systems will be compared and discussed. In addition, the key validation or verification challenges will be contrasted and discussed within the context of a CLIA Lab experience using both types of systems. The objective of the presentation is to provide sufficient information, drawn from experience, to enable labs to choose the path that best suits their environment, goals and objectives.
- Selecting the NGS platform or platforms that best address the pre-analytical and technical considerations of the assay objectives given the specific environment can be a challenging undertaking. Platform throughput, chemistry, and error modality vary greatly and are tightly tied to overall assay performance. This discussion will focus on the strengths and capabilities of the different commercially available NGS platforms from the perspective of users with experience on multiple platforms.
3rd Annual Clinical Genome Conference. 2014
Clinical Next-Generation Sequencing in the CLIA Environment: Mythos and Logos in Today’s Molecular Labs . Jamie L. Platt, Ph.D., CGMBS, MB(ASCP), Vice President, Genomic Solutions, Molecular Pathology Laboratory Network, Inc.
Implementing NGS in CLIA laboratories is easier now than ever before. However, bringing NGS into established CAP-regulated labs is still not easy and key challenges remain. Three key components that simplify bringing NGS into the CLIA lab will be discussed and remaining challenges highlighted through audience participation.