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DATA DEĞİŞİM
DR. BİREP AYGÜN, NAR GENOME COACHING
Genomik ve Big Data’nın
Bireyselleştirilmiş Tıp Vaadi
vaat -di
isim Arapça va¤d (isim) Bir işi yerine getirmek için
verilen söz
"Bütün bunlar güneşli ve rüzgârlı bir günün boş vaatleri
miydi?" - N. Hikmet
Atasözü, deyim ve birleşik fiiller
vaatte bulunmak vaadinde durmak vaadini tutmak
1. What is genomics - beyond the chromosome : genes,
sequences, SNPs, mutations, gene expression, regulatory
elements, miRNA, lncRNA, utility of genomic biomarkers,etc.
2. What is personalised medicine : personal, preventive,
predictive, participatory - 4PGenomics
3. What is happening now? Already in use : cancer, drug
response, rare diseases,...
4. What will happen in the future?
5. Technological opportunities and obstacles : data generation,
storage, analysis, clinical interpretation, bio-banks,
incorporation into EMR
6. How can the health system be revised?
7. Internationalisation of Healthcare
1. What is genomics - beyond the chromosome : genes,
sequences, SNPs, mutations, gene expression, regulatory
elements, miRNA, lncRNA, utility of genomic
biomarkers,etc.
2. What is personalised medicine : personal, preventive,
predictive, participatory - 4PGenomics
3. What is happening now? Already in use : cancer, drug
response, rare diseases,...
4. What will happen in the future?
5. Technological opportunities and obstacles : data
generation, storage, analysis, clinical interpretation, biobanks, incorporation into EMR
6. How can the health system be revised?
7. Internationalisation of Healthcare
Human Genome Project
High throughput sequencing
Genetic variants
Population variants
Real time molecular dynamics
Genotype/Phenotype correlation
Meta Analysis
What would you like to do?
Genetic discovery
Drug Safety
Clinical trial
inclusion/exclusion
PM EM
Explain phenotype
variation
Public Policy
Clinical practice
WHY?
DATA
STORAGE
DATA
ANALYSIS
DATA
GENERATION
DATA
TRANSFER
SECURITY
DATA
TRANSLATION
DATA-4-SCIENCE DATA-4-MEDICINE
DATA-4-HEALTH
PRECISION MEDICINE
4-P Genomics
Predictive, Preventive
Participatory, Personalised
RIGHT TREATMENT
RIGHT PATIENT
RIGHT TIME
RIGHT DOSE
Prenatal testing
 Pre-implantation testing
 Newborn screening
 Diagnostic testing
 Carrier testing
 Predictive and pre-symptomatic testing
 Forensic testing
 Direct-to-Consumer DTC testing
 CANCER
 PHARMACOGENOMICS
 PRENATAL/ NEW-BORN SCREENING
 RARE DISEASE
 LIFE-STYLE e.g. NUTRITION,
EXCERCISE
 DTC PREDISPOSITION
TOP 10 highestgrossing drugs help
1 in 4 to and 1 in 25 of
the people who take
them.
For some drugs, such
as statins — used to
lower cholesterol — as
few as 1 in 50 may
benefit.
There are even drugs
that are harmful to
certain ethnic groups
because of the bias
towards white
Western participants
in classical clinical
trials.
DO NOT HARM
ONE-SIZE-DOESNT-FIT-ALL
CANCER BIG DATA
Survival, Best Response and Toxicity
Tumour’s genome
Driver mutations in genome that lead to
predisposition to or manifestation of disease
Clues on response to treatments, metastasis,
recurrence, management of disease.
CCANCER IS A VERY PERSONAL DISEASE
MY CANCER vs THE REST
Genomics ROI
“Every dollar we invested to map the human genome
returned $140 to our economy.”
--President Barack Obama, 2013 State of the Union address, Feb. 12, 2013
http://web.ornl.gov/sci/techresources/Human_Genome/publicat/BattelleReport2011.pdf
[email protected] @genperisi GSM +905325175772
Bayıldım Cad. Acısu Sok. No.16 Salihbey Apt. D.3 Maçka / İstanbul
Tel : +90 212 224 77 15