The Data-Driven Medicine Revolution in Oncology

Pierre Hutter – Co-founder & CSO Sophia Genetics

Data-Driven Medicine

Genomic alterations Personalized treatments/Prevention

I’m either going to be

one of the first to be

able to outrun a cancer

like this, or I’m going to

be one of the last to die

from it.

Steve Jobs - 2007

Sequencing

technologies

Analytics

2003 = 3 bio $

2016 = <1’000 $

Clinical Diagnostics

Machine learning

Sophia Genetics Community

Collective ArtificiaI Intelligence for Data-Driven Medicine

Helping patients in 5 disease areas

Collective Intelligence

Oncology

Service2Patients1 3

raw

data

HospitalsPatient

?

resu

lts

Genomic testing workflow

Specific bioinformaticpipeline activated

Our Approach: Mutualization

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• Our Service is available in a Software as a Service (SaaS) mode

• Our approach is to mutualize data from many labs across Europe and other continents

• We store and protect data (FASTQ, BAM & VCF) on behalf of our customers

• The raw data is used to learn and improve the algorithm

• The members of the Sophia Genetics community feed their own database of variants

Platform for routine clinical genomics

Accurate SNP and

INDEL detection

Superior CNV

resolution

Advanced variant

annotation

Top analytical performance

Shortened turn-around time

Accelerated adoption of NGS tests

18

Clinical NGS Validation Program

FAST TRACK STANDARD

Pre-validated tests – achieve top analytical performance

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Algorithm that adapts to each combination of

1. Sample Type (blood-PBL, tumor,…)

2. Targeted gene panel

3. Amplification/capture technology

4. NGS Instrument

Commercial Panels

Custom Panels

Qualification, optimisation, validation and quality control performed by Sophia Genetics

marking of pipelines when appropriate

Currently: > 115 pipelines

ATTGGGCATAGGCCGAATCGTAAA

Quality

check

Sequence

alignment

Variant

calling

Variant

annotation

Variant

filtering

Raw data Results

>99.9% Sensitivity

and specificity

Data Security & Privacy, part of our DNA

Privacy

Security

Facilitate your ISO 15189 accreditation

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AnalyticalPerformance

Report

Documentation & Procedures Method Validation

Medical Laboratories - Requirements for Quality and Competence

Patients tested

One patient’s cancer looks like the one of 8’000 other patients, with best response with treatment X

Our Vision

Basic Copyright Notice & Disclaimer

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