The Biological Passport in 4P-Medicine

BioKaizen Lab SA Rte de l'Ile-aux-Bois 1A 1870 Monthey Switerland

Pierre-Edouard Sottas, PhD, CEO pesottas@biokaizen.com

Importance of early diagnosis of cancer

preemptive and predictive medicine

What screening programme should be implemented:

mass screening (irrespectively of risk status)

that is Participative (patient-empowering)

based on annual check-ups (biological monitoring)

targeting multiple cancers and other diseases from a simple blood test (multi-diseases)

based on the latest advances in omics fields (big data)

with data automatically saved in an Individual Electronic Health Record (IEHR)

tailored to each patient (Personalized diagnosis)

that does not increase healthcare costs (cost-effectiveness)

A similar programme does already exist !

The Biological Passport programme applied since 2008

… on all world elite athletes

The Athlete Biological Passport

All world elite athletes (>100'000) are subject to

biological monitoring (>200'000 tests per year)

based on blood or urine tests targeting multiple forms of doping and diseases

using high-throughput “big data” omics technologies

automatically uploaded from 32 worldwide laboratories in an IEHR database located in Montreal, Canada

with data automatically personalized based on previous test results and/or through the inference of genetic polymorphisms

with optimized cost-effectiveness.

Snapshot of Biological Passport

The central dogma of biology

DNA

RNA

Protein

Metabolite

What can happen

What appears to be happening

What makes it happen

What has happened and is happening

Same genome, different metabolome

Personalized phenotypic biomarkers

Causality: Models, Reasoning and Inference, J. Pearl, Cambridge 2000

Genome

Disease Genome

Metabolome

Disease

From genotype to phenotype: the metabolome as functional intermediate of pathways to disease

Genome

Disease

OR

(1) To get good data

Big data: the measurement of large phenotypic profiles from a single drop of blood

Metabolome by LC/MS >40'000 endogenous biomolecules

(2) To personalize the data

Personalized biology: the personalization of these large phenotypic profiles by the inference of genetic polymorphisms and the use of previous individual test results

population-based reference ranges

individual-based reference ranges

Doc'H

(3) To turn these data into clinically meaningful results

Disease scores: the recognition of the fingerprint let by complex diseases in large omic profiles with specific pattern recognition techniques

diabetes mellitus

aortic aneurysm

colon cancer

Alzheimer

prostate cancer etc....

In practice: Direct-To-Consumer check-up/ screening test using Dried blood spots

-articipative -redictive -reemptive -ersonalized -atient empowering

P and to ease

aims to be

BioKaizen Lab SA Rte de l'Ile-aux-Bois 1A 1870 Monthey Switerland

Pierre-Edouard Sottas, PhD, CEO pesottas@biokaizen.com

Acknowledgements: