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Webinar: Validation and Internal QC of Clinical NGS to Support an Accredited Diagnostic Workflow

September 18 2018 @ 4:00 PM - 5:00 PM


Dr. Kevin Balbi
Head of Bioinformatics
Sarah Cannon Molecular Diagnostics


In this webinar, Kevin Balbi, head of bioinformatics at Sarah Cannon Molecular Diagnostics, will discuss the validation of targeted sequencing panels on the Ion Torrent platform using Horizon Discovery’s Tru-Q controls. He will also discuss how those controls are being used for ongoing internal quality control (IQC) and how this has supported a recent laboratory inspection by the United Kingdom Accreditation Service under ISO15189.

Sarah Cannon Molecular Diagnostics, part of HCA Laboratories in London, offers a range of molecular assays, from single-gene variant analyses through to a 50-gene panel somatic variant analysis, MLH1 promoter hypermethylation, T & B cell clonality assessment, and microsatellite instability status.

Validation of targeted sequencing panels for clinical diagnostic use requires reference material with a range of known variants and confirmed variant frequencies. Additionally, the continual assessment of assay performance is key to ensuring robust and reliable results. Dr. Balbi will demonstrate how his team has validated three targeted DNA sequencing panels for clinical diagnostic use and assessed their limit of detection using the Horizon Discovery Tru-Q controls. He will explain the lab’s approach to IQC, also showing the reliability of the assays over time. These data contributed to the accreditation of the bioinformatics workflow under ISO15189.

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.