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

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Presentation on theme: "Breaking the Code Information Technology, Genomics, and the Journey Toward Personalized Medicine."— Presentation transcript:

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

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

3 My Medical Record National Standard Format - Continuity of Care Document Human Readable and Computable http://geekdoctor.blogspot.com/2008/01/ personalized_medicine.html

4 Implantable RFID Tag Implanted Medical Records via RFID

5 New Personal Health Record Products Google Microsoft Revolution Health Dossia AHIP

6 National Standards for Healthcare Information Exchange

7 First step – Blood, skin, oral swabs

8 8 500,000 base pairs analysed on an Affymetrix device

9 9

10 10 Probe Set IDChromosomePhysical PositionStranddbSNP RS ID SNP_A-17805202047874178+rs16994928 SNP_A-17806184104894961+rs233978 SNP_A-17806321451975831+rs2249922 SNP_A-1780654121039991-rs7553394 SNP_A-41924951656554433+rs17821448 SNP_A-4192498122591398-rs216008 SNP_A-17807327102547747-rs12540583 SNP_A-178084834691811-rs2306877 SNP_A-17809851832432188+rs3859360 SNP_A-17810221177691705+rs10899467 SNP_A-17810761486783793-rs1682558 SNP_A-17812492219338167+rs635095 SNP_A-1781276466428616+rs7683949 SNP_A-1781302553642052-rs35941 SNP_A-17815101676983363+rs7192626 SNP_A-4192564912511826+rs16929097 SNP_A-1781614522436938-rs16895132 SNP_A-1781633115109837+rs2472530 SNP_A-17817641864214239-rs12327228 SNP_A-1781829166722280+rs4525489 SNP_A-1781832166722304+rs10492838 SNP_A-17819821066106365-rs2438996 SNP_A-17821559102132428+rs10819760 SNP_A-17823051520351272-rs8031642 SNP_A-17828914169929466-rs7680120 SNP_A-17829491055075252-rs17696599 SNP_A-41926752220871057-rs5995616 SNP_A-1783398815317330-rs4831722 SNP_A-17834961177954925-rs10751296

11 Full Sequencing of 60 million base pairs DIY

12 12 Shendure, Porreca et al., Science 309: 1729-32 20:31 Preparing my Genome for Analysis

13

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

15 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 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!


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