1. DNA DATA DE Ğİ Ş İ M DR. B İ REP AYGÜN, NAR GENOME COACHING

2. 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 bulunmakvaatte bulunmak vaadinde durmak vaadini tutmakvaadinde durmakvaadini tutmak Genomik ve Big Data’nın Bireyselleştirilmiş Tıp Vaadi

3. 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

4. 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

5. Human Genome Project High throughput sequencing Genetic variants Population variants Real time molecular dynamics Genotype/Phenotype correlation Meta Analysis

6. What would you like to do? Genetic discovery PM EM Clinical practice Drug Safety Explain phenotype variation Clinical trial inclusion/exclusion Public Policy

7. WHY?

14. DATA GENERATION DATA STORAGE DATA TRANSFER SECURITY DATA ANALYSIS DATA TRANSLATION

16. DATA-4-SCIENCE DATA-4-MEDICINE DATA-4-HEALTH

17. PRECISION MEDICINE 4-P Genomics Predictive, Preventive Participatory, Personalised RIGHT TREATMENT RIGHT PATIENT RIGHT TIME RIGHT DOSE

18.  Prenatal testing  Pre-implantation testing  Newborn screening  Diagnostic testing  Carrier testing  Predictive and pre-symptomatic testing  Forensic testing  Direct-to-Consumer DTC testing

19.  CANCER  PHARMACOGENOMICS  PRENATAL/ NEW-BORN SCREENING  RARE DISEASE  LIFE-STYLE e.g. NUTRITION, EXCERCISE  DTC PREDISPOSITION

20. TOP 10 highest- grossing 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.

21. DO NOT HARM ONE-SIZE-DOESNT-FIT-ALL

22. 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. CANCER BIG DATA

23. CCANCER IS A VERY PERSONAL DISEASE MY CANCER vs THE REST

25. 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 2013 State of the Union address, Feb. 12, 2013 http://web.ornl.gov/sci/techresources/Human_Genome/publicat/BattelleReport2011.pdf

32. aygunsadiyeb@gmail.comaygunsadiyeb@gmail.com @genperisi GSM +905325175772 Bayıldım Cad. Acısu Sok. No.16 Salihbey Apt. D.3 Maçka / İ stanbul Tel : +90 212 224 77 15