Next Generation Dx Summit

Archived Content

Short Course 5
NGS as a Diagnostics Platform
Monday, August 18 | 2:00pm - 5:00pm | Capital Hilton Hotel | Washington DC

Instructors:

Madhuri HegdeMadhuri Hegde, Ph.D., FACMG, Professor, Human Genetics; Executive Director, Emory Genetics Lab, Emory University School of Medicine





Jennifer MorrissetteJennifer Morrissette, Ph.D., Scientific Director, Clinical Cytogenetics Laboratory; Clinical Director, Center for Personalized Diagnostics (CPD), University of Pennsylvania School of Medicine





Justin ZookJustin Zook, Ph.D., Biomedical Engineer, NIST






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 many 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. The concluding presentation will be dedicated to quality and standardization of NGS assays.

Topics to be discussed:


  • Technical aspects, tremendous power and pitfalls of next-generation sequencing
  • Next generation sequencing for cancer genomic analysis and companion diagnostics
  • Data analysis approaches and challenges in next-generation sequencing
  • New challenges in test interpretation and genetic counseling
  • Applications emphasizing genetic disorders
  • New requirements for informed consent
  • Standardization of NGS assay development


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