Validation And Implementation Of A Custom Panel Using Capture-based Target Enrichment
For Hereditary Cancer Testing: rocheA Ring Study Amongst Three Ontario Genetics Laboratories

Friday, November 12, 2021
12:00 PM ET


Amanda Smith, PhD, DABMGG, FCCMG
Clinical Molecular Geneticist @CHEO

H/CCO recently launched a program with the goal of standardizing comprehensive hereditary cancer testing across Ontario. This includes a standardized
gene list for all Clinical Diagnostics Laboratories performing this testing across the province, which has required the update of many existing NGS panels
to add new genes. Three Ontario Genetics laboratories (CHEO, Kingston Health Sciences Center and Hamilton Health Sciences), previously using Roche
SeqCap custom designed NGS panels, are now working together to share the design and validation of a new panel based on KAPA HyperCap Target
Enrichment technology. This presentation will compare and contrast the results from the validation of this panel across the three laboratories and specifically
evaluate the performance of the newly designed NGS hereditary cancer panel to detect copy number variants (CNVs) and other complex variants with a
high-degree of accuracy.

click here to register

Dr. Smith is a FCCMG Clinical Molecular Geneticist currently working in the Genetics Diagnostic Laboratory at CHEO, which offers diagnostic services for patients and families with inherited diseases from both Ontario and other provinces. She is also an Assistant Professor in the Department of Pathology and Laboratory Medicine at University of Ottawa. Both her clinical and research interests focus on hereditary cancer testing and variant interpretation.


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Leading Strand  - Friday, December 17 at 12:30 PM ET - REGISTER

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46th Annual Scientific Meeting - June 6-9, 2022 - Presented Virtually