Breaking the Code Information Technology, Genomics, and the Journey Toward Personalized Medicine.

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Presentation transcript:

Breaking the Code Information Technology, Genomics, and the Journey Toward Personalized Medicine

Personalized Medicine Is A Lifetime Medical Record Coordination of Care A Personal Genomic Record

My Medical Record National Standard Format - Continuity of Care Document Human Readable and Computable personalized_medicine.html

Implantable RFID Tag Implanted Medical Records via RFID

New Personal Health Record Products Google Microsoft Revolution Health Dossia AHIP

National Standards for Healthcare Information Exchange

First step – Blood, skin, oral swabs

8 500,000 base pairs analysed on an Affymetrix device

9

10 Probe Set IDChromosomePhysical PositionStranddbSNP RS ID SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs35941 SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs SNP_A rs

Full Sequencing of 60 million base pairs DIY

12 Shendure, Porreca et al., Science 309: :31 Preparing my Genome for Analysis

14 My Genome-Wide Association Studies Coronary Artery Disease – Increased Risk Diabetes Type 2 – Average Risk Rheumatoid Arthritis – Average Risk

15 The PGP 10 and next steps toward Personalized Medicine Standardized medical records All phenotypic information 3D photographs All sequences and interpretations National Standards for Genome data sharing and protection Scale to 100,000 patients

16 Summary Technologies to sequence the human genome will be available and affordable in 2008 The standards to securely exchange genomic data will be available in 2008 The science associating genomes and disease therapy is evolving rapidly. Personalized medicine is here!