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Next-Generation Sequencing in Routine Diagnostics: Are We There Yet?

PhD Trainee
Sponsor: Scientific Committee on Hematopathology and Clinical Laboratory Hematology
Program: Scientific Program
Hematology Disease Topics & Pathways:
Mechanisms, Technology and Procedures, genomics, genetic testing, NGS, WGS
Saturday, December 9, 2017: 7:30 AM-9:00 AM
Bldg A, Lvl 4, A411-A412 (Georgia World Congress Center)
Sunday, December 10, 2017: 9:30 AM-11:00 AM
Bldg C, Lvl 3, Georgia BR 1-3 (Georgia World Congress Center)

Description:
Please click here to review this session.

Next-generation sequencing (NGS) has been instrumental in broadening our knowledge of the genomic landscape of hematologic malignancies, and their application as diagnostic and prognostic tools has been rapidly expanding. This session will focus on the utility of NGS in the routine hematologic practice. 

Dr. Kojo Elenitoba-Johnson will discuss the factors that can affect the effective implementation of NGS-based testing in the clinical laboratory, with particular focus on hematologic malignancies. This will include understanding the parameters affecting selection of platforms, providing considerations for disease-based panels or broad/exome-wide analyses and for clinical decision support. Dr. Elenitoba-Johnson will also address challenges in setting up large-scale genomic sequencing assays deployed in a variety of laboratory settings.

Dr. Elaine Lyon will discuss the rapid evolution of genomic testing. She will address professional guidelines available to laboratories to establish quality metrics. In addition, Dr. Lyon will address expectations of data quality and elements of reporting identified variants and their interpretation. She will also discuss the molecular community’s efforts to address consistency in using guidelines. 

Dr. Torsten Haferlach will discuss which NGS option (single genes, panels, whole exome sequencing, whole genome sequencing, RNA sequencing) may be ready for real-time precision medicine. The use of whole exome sequencing will be discussed in detail. Important issues that require attention include instruments, assays, coverage, bioinformatic support for data curation, clinically relevant reporting, and advice for treatment decisions, if actionable. All these chain links are mandatory to allow clinical applicability. Dr. Haferlach will address recent advantages in using whole-exome sequencing for clinical decision making and will define and predict steps for the near future.

Chair:
Maria A. Proytcheva, MD, University of Arizona
Disclosures:
No relevant conflicts of interest to declare.
Please click here to review this session.

Next-generation sequencing (NGS) has been instrumental in broadening our knowledge of the genomic landscape of hematologic malignancies, and their application as diagnostic and prognostic tools has been rapidly expanding. This session will focus on the utility of NGS in the routine hematologic practice. 

Dr. Kojo Elenitoba-Johnson will discuss the factors that can affect the effective implementation of NGS-based testing in the clinical laboratory, with particular focus on hematologic malignancies. This will include understanding the parameters affecting selection of platforms, providing considerations for disease-based panels or broad/exome-wide analyses and for clinical decision support. Dr. Elenitoba-Johnson will also address challenges in setting up large-scale genomic sequencing assays deployed in a variety of laboratory settings.

Dr. Elaine Lyon will discuss the rapid evolution of genomic testing. She will address professional guidelines available to laboratories to establish quality metrics. In addition, Dr. Lyon will address expectations of data quality and elements of reporting identified variants and their interpretation. She will also discuss the molecular community’s efforts to address consistency in using guidelines. 

Dr. Torsten Haferlach will discuss which NGS option (single genes, panels, whole exome sequencing, whole genome sequencing, RNA sequencing) may be ready for real-time precision medicine. The use of whole exome sequencing will be discussed in detail. Important issues that require attention include instruments, assays, coverage, bioinformatic support for data curation, clinically relevant reporting, and advice for treatment decisions, if actionable. All these chain links are mandatory to allow clinical applicability. Dr. Haferlach will address recent advantages in using whole-exome sequencing for clinical decision making and will define and predict steps for the near future.

Kojo S.J. Elenitoba-Johnson, MD

University of Pennsylvania, Philadelphia, PA; Department of Pathology, University of Pennsylvania, Philadelphia, PA

Elaine Lyon, PhD

Molecular Genetics, ARUP Laboratories, Salt Lake City, UT; Pathology Department, University of Utah, Salt Lake City, UT

Torsten Haferlach, MD

Munich Leukemia Laboratory GmbH, Munich, Germany; MLL Munich Leukemia Laboratory, Munich, Germany

See more of: Scientific Program