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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