From research to routine clinical practice: Bio-informatic tools are permitting the use of large scale sequencing

Version imprimable
November 20, 2017
Bernard Courtieu

On November 27th, 2017, the CRCHUM Conferences invites Bernard Courtieu, Chairman and Chief Executive Officer at IntegraGen. He will discuss, recent progress in bio-informatics & genomic interpretation software tools.

Abstract

Large scale sequencing (whole exome, whole genome, transcriptome) has been widely used for research purposes since 2009 and the availability of massively parallel sequencing tools. However, these large scale sequencing tools have not yet reached routine clinical practice, even in areas where genomics are already standard of care like oncology. While the first barrier to WES/WGS & transriptome was cost, it appears that the next roadblock is mostly linked to the inability of clinicians, even the most specialized medical biologist, to organize, digest and report the amount of data generated by a whole molecular profile of patients. Indeed, a whole exome consists in c. 5 go of raw data, and the formatted data, after applying bio-informatic pipeline and various variant annotation tools, stll 50 to 100 Mo; which makes it impossible for any human being to deal with within the few hours that can be devoted (at best) to a single patient. 

Recent progress in bio-informatics & genomic interpretation software tools can be the trigger for translating large scale genomics (and its associated benefits over targeted panels of genes) into clinical practice and within a timeframe compatible with clinical decisions, possibly opening an era of large scale sequencing routine clinical utilization, and the positioning, design, specificities and QC are now the most critical aspects of this evolution.

This conference will be presented in English.

Monday, November 27th, 2017, at 1 pm.
Auditorium of the CRCHUM, R05.210 and R05.220
900 Saint-Denis Street, 5th floor 
Montreal (Quebec)  H2X 0A9

Bernard Courtieu, Ph.D., M.B.A.
Chairman and Chief Executive Officer
IntegraGen  

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