Webinar: Validation of Error-Corrected Sequencing for Hematological Malignancies

Published Thu Oct 18, 2018


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Webinar abstract

Validation of Error-Corrected Sequencing for Hematological Malignancies

This webinar discusses a validation study for a next-generation sequencing (NGS) assay for hematological malignancies (e.g., acute myeloid leukemia, acute lymphocytic leukemia, myelodysplastic syndrome, and myeloproliferative neoplasms).

Diagnostic and prognostic testing methodologies in hematological malignancies are evolving beyond traditional chromosome analysis, fluorescent in situ hybridization, and single-analyte molecular testing toward NGS because it enables the detection of multiple molecular driver mutations and oncogenic fusions in a single assay. However, most NGS approaches are limited in their ability to detect fusions, or to detect known pathogenic variants in specific genes such as CEBPA and FLT3 without using additional molecular methodologies. The ability to quickly and accurately identify specific translocation partners and the presence of specific pathogenic variants is critical in the era of increasingly personalized treatment plans.

In this webinar, Drs. Catherine Rehder and Sarah Rapisardo at Duke University describes their efforts to validate the Archer® VariantPlex® Myeloid assay. They also discuss their work to expand testing with a custom Archer FusionPlex® assay to detect known and novel fusions, with a focus on Ph-like ALL fusions.

Drs. Rehder and Rapisardo detail their initial proof-of-principle studies, which have demonstrated 100% concordance with their current assays, with superior coverage of previously problematic regions and significant improvements in library complexity.


About the presenters

Catherine Rehder, PhD, FACMG

Catherine Rehder, PhD, FACMG

Dr. Catherine Rehder graduated with a Ph.D. in human genetics from Virginia Commonwealth University in Richmond, VA. After completing American Board of Medical Genetics and Genomics (ABMGG) Clinical Cytogenetics and Clinical Molecular Genetics fellowships at Duke University in 2007, she became an Assistant Professor of Pathology at Duke. Dr. Rehder is currently the Director of the Duke Cytogenetics Laboratory and Associate Director of the Duke Molecular Diagnostics Laboratory. Dr. Rehder spent 6 years as a member of the ACMG Laboratory Quality Assurance Committee, serving as Chair for 2 years. She was also elected to the ACMG Board of Directors in 2017.

Dr. Rehder is active in the genetics community in North Carolina, serving as a co-investigator on NICHD-funded newborn screening pilot studies for Mucopolysaccharidosis I and X-Linked Adrenoleukodystrophy. She is also an advisor to the Early Check voluntary newborn screening program. In addition to her roles as laboratory director, lecturer, and training program director, Dr. Rehder is active on several intramural and extramural committees, including the Clinical Genome Resource (ClinGen), the American Cytogenomics Conference (ACC), and the Cancer Genomics Consortium (CGC).

Dr. Rehder is an author on >40 peer-reviewed publications, review articles, and laboratory guidelines on a variety of cytogenetics and molecular genetics topics. Her primary areas of interest include reporting practices of genomic testing, Pompe disease and other glycogen storage diseases, as well as newborn screening and cancer cytogenetics.

Sarah Rapisardo, PhD, DABMGG

Sarah Rapisardo, PhD, DABMGG

Dr. Sarah Rapisardo graduated with a Ph.D. in Molecular Cancer Biology from Duke University in Durham, NC. After completing ABMGG postdoctoral fellowships in Clinical Cytogenetics and Clinical Molecular Genetics at Duke, she started as an Assistant Professor in the Department of Pathology at Duke. In her current position as Assistant Director of the Clinical Cytogenetics and Molecular Diagnostics Laboratories, she is involved in a broad range of clinical cytogenetic and molecular testing and assay development, including postnatal germline analysis and the evaluation of acquired neoplastic abnormalities.

Dr. Rapisardo also enjoys working with learners in the laboratory and in the university community. Dr. Rapisardo is especially interested in implementing next-generation sequencing for testing in hematological malignancies and has led the validation work for the myeloid NGS panel.

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For Research Use Only. Not for use in diagnostic procedures. For Research Use Only. Not for use in diagnostic procedures.