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Plateforme de soutien à la recherche clinique
Germline Genomics
and Liquid Biopsies
Expert Forum on Cancer Diagnostics
Swiss Re – Ruschlikon Nov 7th, 2016
Vincent Mooser MDHead Lab Department
CHUV University Hospital
Lausanne, Switzerland
Image Source: The Huffington Post
Plateforme de soutien à la recherche clinique
Normal cell Cancer cell TumorTreatedtumor Relapse
Genes*
Environment
Plateforme de soutien à la recherche clinique
Normal cell Cancer cell TumorTreatedtumor Relapse
Somatic Genetics
Liquid Biopsies
Plateforme de soutien à la recherche clinique
Normal cell Cancer cell TumorTreatedtumor Relapse
Somatic Genetics
Liquid Biopsies
Pre-clinicaldetection
Detection Follow-upStaging
Plateforme de soutien à la recherche clinique
Normal cell Cancer cell TumorTreatedtumor Relapse
Somatic Genetics
Liquid Biopsies
Pre-clinicaldetection
Detection Follow-upStaging
Level of confidence for a role of liquid biopsies
Plateforme de soutien à la recherche clinique
Normal cell Cancer cell TumorTreatedtumor Relapse
Germline genomics
PredictionPreventionTailored therapy(pharmacogenetics)
Plateforme de soutien à la recherche clinique
Plateforme de soutien à la recherche clinique
Genet Med 2013; 15 : 565
Plateforme de soutien à la recherche clinique
GWAS Hits
Year1998 2016
Pubmed Search : GWAS AND Cancer : 5037 hits
Plateforme de soutien à la recherche clinique
GWAS HitsGWAS Hits
Year1998 2016
Pubmed Search : GWAS AND Cancer : 5037 hits
General Consent for Clinical Research
First institution in Switzerland
to design and implement
general consent
Includes whole-genome
sequencing
Includes possibility to re-
contact participants
BIL : Age distribution
Participation rate in BIL
Yes coded75%
No15%
Yes anony-mised10%
BIL : Participation Rate
by Age and Gender
Proportion of Patients who Want to be
Informed about Clinically Actionable Findings
Yes85%
No15%
Plateforme de soutien à la recherche clinique
Normal cell Cancer cell TumorTreatedtumor Relapse
Genes*
Environment
Germline Genomics: Mendelian Genetics
Complex Trait Genomics
Somatic Genetics
Liquid Biopsies
Pre-clinicaldetection
Detection Follow-upStaging
Plateforme de soutien à la recherche clinique
18
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