Author: EBE-EFPIA Date: 13/05/2017
EBE-EFPIA PMWG: NGS in Personalized Medicine
6th Meeting on External Quality Assessment in Molecular Pathology
May 12-13, Naples
Who we are: Multi-organizational collaboration of multiple stakeholders from the pharmaceutical industry, interested in personalized medicine
What we do: Discuss topics relevant to personalized medicine. At November 2016 meeting PMWG made decision to create a group to focus on NGS
Evaluation is focused on the following key aspects:
Technical evaluation
Regulatory considerations
Data protection and storage
Economical issues
Why we are here: IQN Path Input is requested on the technical evaluation requirements to collaborate on critical evaluation experiments required to ensure safe clinical implementation of NGS
EFPIA EBE PMWG
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A biomarker is a characteristic that is evaluated as an indicator of normal biologic processes, pathologic processes, or biological responses to a therapeutic intervention
Biomarkers can allow for the definition of the patient population that can derive the most benefit from a therapeutic (Companion Diagnostics (CDx))
The efficacy and/or safety of the therapeutic can therefore dependent on the quality of the biomarker detection
The development of the drug/biologic and in vitro diagnostic are interlinked (codevelopment)
The Codevelopment Principle
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NGS has the promise to evaluate a variety of relevant biomarkers at once with the aid of multi-analyte based panels in order to fully understand disease
pathology
Current regulatory paradigm of validation of each individual biomarker in each indication/specimen type is prohibitive to clinical development
Aim is to leverage in depth technical understanding to focus on the relevant elements impacting assay performance
Goal: Balanced approach of bringing relevant, high quality NGS assays to the market, while allowing for a flexible regulatory approach that allows for safe innovation
NGS for Patient Selection for Treatment
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Excited to hear about your efforts in the area of NGS
Fill the void in evidence base to improve testing quality through learning more about IQN Path’s findings
Input from IQN Path would be imperative in order to aid in shaping regulatory expectation to be in line with clinical laboratory experience, ensuring patient safety while also allowing for innovation
Opportunity for Collaboration
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Initial Evaluation is Focused on Technical Steps
NGS Workflow broken into four distinct steps:
Sample preparation
Library generation
Sequencing
Data analysis
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Goal:
Identification of Elements that Impact Assay Output
Identification of major contributors to assay quality variation identified for the individual steps:
Sample preparation
Performance variability with specific specimen types
Impact of specimen preservation (FFPE fixation)
Library generation
Base composition/ GC content/indels
Coverage requirements
Sequencing
Data analysis
Choice of reference genome
IQN Path guidance thought on elements that critically impact device performance
What are we missing?
What is IQN Paths experience based on their interlaboratory performance evaluation in the area of NGS?
Would standards development be useful?
If so, what qualitities should these standards have?
Opportunity for Collaboration
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Thank you!
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