Course: Next-Generation Sequencing as a Diagnostics Platform, June 4, 2012, Philadelphia, PA

Cambridge Healthtech Institute (CHI) will host this 3 hour short course prior to the start of its Innovative Tissue-Based Diagnostics: Decoding Cancer & Other Maladies conference.
April 4, 2012 - PRLog -- When: June 4, 2012 (9:00 am – 12:00 pm)
Where: Loews Hotel, Philadelphia, PA

Next generation sequencing (NGS) has revolutionized genomics and is now on the verge of being widely adopted for medical sequencing. Until recently, comprehensive genetic testing for genetically heterogeneous diseases was limited by the high cost of traditional (Sanger) sequencing technology. NGS technologies have now completely eliminated this limit such that virtually any gene with a published association to the disease of interest can be tested. Whole exome or whole genome sequencing (WES/WGS) is the ultimate genetic test and early success stories provide a taste of its power; however, while the cost of generating high-quality whole genome sequence data is rapidly dropping, analysis of the enormous number of variants detected is still too complex to implement WGS/WES as a first line genetic test. Targeted NGS based gene panels are typically an order of magnitude smaller than WES/WGS based testing but follow the same principles. Screening large sets of genes is particularly useful when the clinical diagnosis is uncertain as it eliminates the need for costly and lengthy cascade testing that has dominated genetic testing in the past. Drawbacks are significantly increased numbers of detected variants, which poses novel challenges for post-analytic data analyses. The focus of this short course will be on understanding the use of NGS in clinical diagnosis, practical implementation of NGS in clinical laboratories and analysis of large data sets by using bioinformatics tools to parse and interpret data in relation to the clinical phenotype.

Madhuri Hegde, Ph.D., FACMG, Associate Professor, Senior Director, Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine.

Birgit Funke, PhD, FACMG, Assistant Professor of Pathology, MGH/Harvard Medical School, Director Clinical Research and Development, Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine.


Session 1: Overview of Next Generation Sequencing (NGS) Technology and Clinical Laboratory Implementation

From Sanger Sequencing to NGS: Overview of Techniques and Clinical Applications
Madhuri Hegde

Implementation and Clinical Validation of NGS in a Diagnostic Laboratory
Birgit Funke

Session 2: Data analysis and clinical interpretation

Data Analysis and Variant Interpretation Pipeline – Example Inherited Cardiomyopathy
Birgit Funke

Clinical Interpretation of NGS data – Cancer and Whole Exome Sequencing
Madhuri Hegde

Reimbursement for Molecular Dx Tests – Review of Current and Future Landscape
Madhuri Hegde

For more details and to register for this course and/or the Tissue-Based Diagnostics conference, visit

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CHI is the preeminent life science network for leading researchers and business experts from top pharmaceutical, biotech and academic organizations. CHI’s portfolio of products includes Cambridge Healthtech Institute Conferences, Insight Pharma Reports, Cambridge Marketing Consultants, Barnett Educational Services, Cambridge Meeting Planners and CHI’s Media Group, which includes news websites and e-newsletters including Bio-IT World and eCliniqua. Founded in 1992, CHI strives to develop quality information sources that provide valuable new insights and competing points of view while offering balanced coverage of the latest developments.

James Prudhomme
Cambridge Healthtech Institute
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Tags:Sequencing, Diagnostics, Ngs, Genomics, Sequencing Course, Sanger, Molecular Diagnostics, Cancer Sequencing, Xome
Industry:Biotech, Science, Medical
Location:Needham - Massachusetts - United States
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