Ponencia: Informática para la salud: la genómica computacional y la medicina de precisión. COIICV: X Congreso de la Ingeniería Informática de la Comunidad Valenciana

1. 1© Bull, 2014
Computational
Genomics
Omics & Medical Integrated Compute System
Computational Genomics and
Precision Medicine
Natalia Jiménez, PhD
natalia.jimenez@bull.es
Healthcare & Life Sciences
Business Manager at Bull

2. 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

3. 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

4. From the Bench …
(research)
… to the Bedside
(healthcare)
PRECISION
MEDICINE
TRANSLATIONAL GENOMICS
GENOMICS
Translational genomicsTranslational genomics

5. The newThe new
medicalmedical
paradigmparadigm
© Bull, 2014

6. To PRECISION MEDICINETo PRECISION MEDICINEFrom TRADITIONAL MEDICINEFrom TRADITIONAL MEDICINE
Evolution to Precision MedicineEvolution to Precision Medicine
© Bull, 2014

7. 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
11 2
34
TRADITIONAL MEDICINETRADITIONAL MEDICINE© Bull, 2014

8. 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

9. © Bull, 2014

10. RevolutionRevolutionRevolutionRevolution
© Bull, 2014

11. The technologies for high-througput data production
generate an avalanche of data
Information and
Communication
Technologies
Bioinformatics
Trends: the OMICS dataTrends: the OMICS data
avalancheavalanche
© Bull, 2014

12. Sequencing isnSequencing isn’’t anymore the bottleneck,t anymore the bottleneck,
but the analysisbut the analysis
© Bull, 2014

13. DNA
Sequencing
Precision
Medicine
❶❶❶❶❶❶❶❶ DATA GENERATION, STORAGE &DATA GENERATION, STORAGE &
INTERPRETATIONINTERPRETATION
❷❷❷❷❷❷❷❷ DATADATA
INTEGRATIONINTEGRATION
❸❸❸❸❸❸❸❸ DATADATA
CORRELATIONCORRELATION
Problems can be grouped in three stagesProblems can be grouped in three stages
© Bull, 2014

14. 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. 15© Bull, 2014
Problems related to data generation & storageProblems related to data generation & storage

16. DNA
Sequencing
Precision
Medicine
❶❶❶❶❶❶❶❶ DATA GENERATION, STORAGE &DATA GENERATION, STORAGE &
INTERPRETATIONINTERPRETATION
Problems related to data integrationProblems related to data integration
❷❷❷❷❷❷❷❷ DATADATA
INTEGRATIONINTEGRATION
Doctors can’t perform patient
stratification based on clinic
and genotypic criteria.
© Bull, 2014

17. Look, the systemLook, the system
highlights a set ofhighlights a set of
patients with all knownpatients with all known
cardiovascular diseasecardiovascular disease
variants and intermittentvariants and intermittent
claudicationclaudication
We must startWe must start
right now with theright 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

18. DNA
Sequencing
Precision
Medicine
❶❶❶❶❶❶❶❶ DATA GENERATION, STORAGE &DATA GENERATION, STORAGE &
INTERPRETATIONINTERPRETATION
Problems related to data correlationProblems related to data correlation
❷❷❷❷❷❷❷❷ DATADATA
INTEGRATIONINTEGRATION
❸❸❸❸❸❸❸❸ DATADATA
CORRELATIONCORRELATION
Late diagnoses, severe
adverse drug reactions,
inefficient treatments and
trial-and-error dosing
© Bull, 2014

19. 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

20. OMICS INTELLIGENCEOMICS INTELLIGENCE
© Bull, 2014
Source: Fátima AlSharour, PhD

21. OMICS ENTRY-
LEVEL
OMICS
MASTER
OMICS
IN
CLINIC
OMICS
INTELLI-
GENCE
❷❷❷❷❷❷❷❷ DATADATA
INTEGRATIONINTEGRATION
❸❸❸❸❸❸❸❸ DATADATA
CORRELATIONCORRELATION
DNA
Sequencing
Precision
Medicine
Bull OMICS Solutions forBull OMICS Solutions for
Translational GenomicsTranslational Genomics
❶❶❶❶❶❶❶❶ DATA GENERATION, STORAGE &DATA GENERATION, STORAGE &
INTERPRETATIONINTERPRETATION
© Bull, 2014

22. 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 LIFEBULL 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. 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 LIFEBULL REFERENCES IN LIFE
SCIENCESSCIENCES

24. 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