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Ponencia: Informática para la salud: la genómica computacional y la medicina de precisión. COIICV: X Congreso de la Ingeniería Informática de la Comunidad Valenciana
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1© Bull, 2014
Com
puta
tiona
l G
enom
ics
Omics & Medical Integrated Compute System
Computational Genomics and Precision Medicine
Natalia Jiménez, PhD
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