1© Bull, 2014

Com

puta

tiona

l G

enom

ics

Omics & Medical Integrated Compute System

Computational Genomics and Precision Medicine

Natalia Jiménez, PhD

natalia.jimenez@bull.es

Healthcare & Life Sciences

Business Manager at Bull

Precision Medicine is possible thanks

to the rapidly decreasing cost of

sequencing complete genomes

The first human genome

sequenced

2013

2003

PRECISION MEDICINE

TRANSLATIONAL GENOMICS

GENOMICS

Next Generation Sequencing (NGS) Next Generation Sequencing (NGS) TechnologiesTechnologies

Roche/454 FLX Illumina Genome Analyzer

Life Technologies SOLiD System

PacBio Ion Torrent

CURRENTCURRENT

© Bull, 2013

From the Bench …(research )

… to the Bedside(healthcare )

PRECISION

MEDICINETRANSLATIONAL GENOMICS

GENOMICS

Translational genomicsTranslational genomics

The new The new medical medical

paradigmparadigm

© Bull, 2014

To PRECISION MEDICINETo PRECISION MEDICINEFrom TRADITIONAL MEDICINEFrom TRADITIONAL MEDICINE

Evolution to Precision MedicineEvolution to Precision Medicine

© Bull, 2014

Betty is worried because her uncle died last year

because of a heart attack. She wants to know if she is

prone to suffer cardiovascular diseases, so

she goes to her doctor.

Betty’s doctors never asked for genomic studies to know about Betty’s profile. The reason was that he didn’t know about this

relatively new technique.

I’ve heard of genomic

sequencing to know if

I’m prone to suffer

cardiovascular disease

Genomic

sequencing???? What’s

that???? We don’t do

that! She eats an unhealthy diet, gains weight, and develops high blood

pressure

To lower her blood pressure Betty’s doctor prescribes her a

drug that provokes her secondary adverse reactions. Therefore, she decides to give

up the treatment

Betty dies of a heart attack at the age of 42

112

34

TRADITIONAL MEDICINETRADITIONAL MEDICINE© Bull, 2014

PRECISION MEDICINEPRECISION MEDICINE© Bull, 2014

Betty, you have a new

appointment with Dr. Martínez next Tuesday at

12:30h

Anything

wrong Dr.

Martínez?

We have detected two

variants in your genome that

are related with

cardiovascular disease.

Fortunately, I will prescribe

you some preventive

measures to avoid the debut

of the disease

After genetics tests, Betty is found to have three gene variants that have been shown conclusively in well validated studies to increase her risk of early heart attack 5-fold.

Genomic Sequencing is cheap and is included in the clinic pathways

© Bull, 2014

RevolutionRevolutionRevolutionRevolution

© Bull, 2014

The technologies for high-througput data production generate an avalanche of data

Information and

Communication

Technologies

Bioinformatics

Trends: the OMICS data Trends: the OMICS data avalancheavalanche

© Bull, 2014

Sequencing isnSequencing isn’’t anymore the bottleneck, t anymore the bottleneck, but the analysisbut the analysis

© Bull, 2014

DNA Sequencing

Precision Medicine

❶❶❶❶❶❶❶❶ DATA GENERATION, STORAGE & DATA GENERATION, STORAGE &

INTERPRETATIONINTERPRETATION❷❷❷❷❷❷❷❷ DATA DATA

INTEGRATIONINTEGRATION❸❸❸❸❸❸❸❸ DATA DATA

CORRELATIONCORRELATION

Problems can be grouped in three stagesProblems can be grouped in three stages

© Bull, 2014

DNA Sequencing

Precision Medicine

❶❶❶❶❶❶❶❶ DATA GENERATION, STORAGE & DATA GENERATION, STORAGE &

INTERPRETATIONINTERPRETATION

Problems related with data generation, Problems related with data generation, storage & interpretationstorage & interpretation

© Bull, 2014

15© Bull, 2014

Problems related to data generation & storageProblems related to data generation & storage

DNA Sequencing

Precision Medicine

❶❶❶❶❶❶❶❶ DATA GENERATION, STORAGE & DATA GENERATION, STORAGE &

INTERPRETATIONINTERPRETATION

Problems related to data integrationProblems related to data integration

❷❷❷❷❷❷❷❷ DATA DATA

INTEGRATIONINTEGRATION

Doctors can’t perform patient stratification based on clinic

and genotypic criteria.

© Bull, 2014

Look, the system Look, the system

highlights a set of highlights a set of

patients with all known patients with all known

cardiovascular disease cardiovascular disease

variants and intermittent variants and intermittent

claudicationclaudication

We must start We must start

right now with the right now with the

preventive planpreventive plan

OMICS IN CLINIC

TRACEABILITY IN THE GENOMIC PROCESSES & METADATA

STRATIFICATION & TARGETED PREVENTIVE MEASURES

POSSIBILITY TO RE-PROCESS DATA

SECURITY

CORRELATION BETWEEN GENOMICS & CLINIC SOURCES

DNA Sequencing

Precision Medicine

❶❶❶❶❶❶❶❶ DATA GENERATION, STORAGE & DATA GENERATION, STORAGE &

INTERPRETATIONINTERPRETATION

Problems related to data correlationProblems related to data correlation

❷❷❷❷❷❷❷❷ DATA DATA

INTEGRATIONINTEGRATION❸❸❸❸❸❸❸❸ DATA DATA

CORRELATIONCORRELATION

Late diagnoses, severe adverse drug reactions,

inefficient treatments and trial-and-error dosing

© Bull, 2014

OMICS INTELLIGENCE

DATA ANALYTICS IN THE HEALTHCARE AND LIFE SCIENCE WORLD

Let’s retrieve a

comparative chart

between patient’s

outcomes treated

atenolol or

amlodipine drugs for

hypertension

Let’s retrieve a

comparative chart

between patient’s

outcomes treated

atenolol or

amlodipine drugs for

hypertension

Look! Patients treated with

atenolol have had 3-fold less

ER visits than the ones treated

with amlodipine and this

means 500,000 cost expenses

reduction in one year

Look! Patients treated with

atenolol have had 3-fold less

ER visits than the ones treated

with amlodipine and this

means 500,000 cost expenses

reduction in one year

OMICS INTELLIGENCEOMICS INTELLIGENCE

© Bull, 2014

Source: Fátima AlSharour, PhD

OMICS ENTRY-LEVEL

OMICS MASTER

OMICS IN

CLINIC

OMICS INTELLI-GENCE

❷❷❷❷❷❷❷❷ DATA DATA INTEGRATIONINTEGRATION

❸❸❸❸❸❸❸❸ DATA DATA CORRELATIONCORRELATION

DNA Sequencing

Precision Medicine

Bull OMICS Solutions for Bull OMICS Solutions for Translational GenomicsTranslational Genomics

❶❶❶❶❶❶❶❶ DATA GENERATION, STORAGE & DATA GENERATION, STORAGE & INTERPRETATIONINTERPRETATION

© Bull, 2014

22© Bull, 2014

The CNAG based in Barcelona, is a cutting-edge research organization focused on

carrying out large scale projects in genomic sequence analysis that lead to

significant improvements in people’s health and quality of life.

The CNAG based in Barcelona, is a cutting-edge research organization focused on

carrying out large scale projects in genomic sequence analysis that lead to

significant improvements in people’s health and quality of life.

CENTRO NACIONAL DE ANÁLISIS GENÓMICO (CNAG)

The second largest European centre in

terms of sequencing capacity

BULL REFERENCES IN LIFE BULL REFERENCES IN LIFE SCIENCESSCIENCES

• Biomedicine

• Agriculture

• Food technology

• Environmental biology

• Biomedicine

• Agriculture

• Food technology

• Environmental biology

Albino Western Lowland

Gorilla sequencing project

The Iberian lynx (Lynx

pardinus sequencing

project

23© Bull, 2014

CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE (CIPF)The Prince Felipe Research Centre (CIPF), is a biomedical research center, whose

objectives are to take up new challenges in the basic research field and to

promote scientific work of excellence. The CIPF installations were built thanks to a

Regional Development Fund from the European Union and the Generalitat

Valenciana (the Valencian Regional Government), through the Regional Ministry

of Health.Leaded the first personalised medicine prototype in Spain

BULL REFERENCES IN LIFE BULL REFERENCES IN LIFE SCIENCESSCIENCES

24© Bull, 2014

UNIQUE BLEND BETWEEN THE MOST ADVANCED

HIGH PERFORMANCE COMPUTING ENVIRONMENT

AND THE MOST POWERFUL GENOMIC ANALYSIS

SOFTWARE SUITES

CUSTOMIZABLE AND FLEXIBLE SOLUTION

SECURITY GUARANTEED

WITH OMICS SOLUTIONSBULL

BOOSTS GENOMICS ANALYSIS