How Australia can lead the way to precision medicine. Isaac S. Kohane, MD, PhD

Transcription

1 How Australia can lead the way to precision medicine Isaac S. Kohane, MD, PhD

2 Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease Report from National academy of science, USA, 2011

3 Afferent and Efferent Arms of Healthcare Information 3

4 18 Cusum of Hospitalizations due to Myocardial Infarction Brownstein, PLoS One, 2007

5 Reis, et al., BMJ 2009 DENTAL EYE PSYCH FEVER/VIRAL URINARY RESP ASSAULT GASTRO INJURY URY RISK: HIGH E.N.T. DERM PAIN Jane Q. Doe ED Profile June,1992 Feb,1999

6 Survival 3 Years After a WBC Test (White, Male, Years; Using Last WBC Between 7/28/05 and 7/27/06)

7 JAMA

8 An Aspiration

9 A question that has withstood the test of time: If a test to detect a disease whose prevalence is 1/1000 has a false positive rate of 5%, what is the chance that a person found to have a positive result actually has the disease, assuming you know nothing about the person's symptoms or signs? 9

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11 PI: Isaac Kohane HMS CBMI / Partners

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14 Finding rare events of interest. Importance of real-time exploration 14

15 CEGS: NIMH/NHGRI Clinical phenotyping Skin/fibroblast ->NPC WGS Coding/NC RNA RNA + perturbations RBBS + selected H marks Differentiated neuron ±depol. RNA + selected H marks 15

16 Probabilistic Modeling Regulatory Dependencies Classification & Prediction 16

17 Patterns across tens of thousands of patients 17

18 Cases Autism or Autisms? PDD CP Epilepsy Years

19 Cases PDD CP Epilepsy Otitis m. Specific DD Viral/Chlam Years

20 Cases PDD CP Epilepsy Otitis m. Specific DD Viral/Chlam PDD Hyperkinetic Anxiety Years

21 Opportunities for Australia Create a national educational program for clinicians that bakes quantitative reasoning into ALL medical decision making Create a genuine nation-wide health monitoring network. Define diseasome trajectories. Bank samples for near-term cost-effective molecular & genomic characterization

22 Afferent and Efferent Arms of Healthcare Information 22

23 A woman could be delivered on Monday, happy and well with her newborn baby on Tuesday, feverish and ill by Wednesday evening, delirious and in agony with peritonitis on Thursday, and dead on Friday or Saturday. Death in Childbirth: An International Study of Maternal Care and Maternal Mortality , by Irvine Loudon.

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25 Adam s Story

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27 A Tale of Two Children Los Angeles London Concordia

28 IBD Expression Profiles: Whole Blood Boundary between diseased and healthy patients Can we identify an existing drug that will move these patients towards the healthy region?

29 Tissue: Blood Drug: Azathioprine

30 IBD Expression Profiles: Colon

31 Tissue: Colon Drug: Prednisone Patient population likely to benefit from Prednisone

32 Applications Drug Repositioning Drug Off-Target Effect Screening Directed Screen Development Identify classes of action beyond ostensible target

33 We are All Matt Might

34 T+15 years With a little help from PMI We can all be as effective as Matt Might

35 Informed Cohort T+5 YEARS Kohane, Science, 2007

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38 Designing the App Store for Health

39 API Can EMRs behave like iphones or Androids in that innovators readily create and widely distribute SUBSTITUTABLE apps across thousands of installs? $15M

40 Apps Gallery Launched April

41 18.12 Issue

42 State-of-the-Art???

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44 1 Design + 1 Developer + 1 Week

45 1 SMART App in 3 SMART Systems

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48 Precision Medicine App

49 Some SMART Hotbeds

50 A few examples of Uptake Argonaut HL7-led implementation of SMART in 5 major EHRs XG Systems Geisenger/Glenn Steele spinoff to implement Geisenger knowhow in SMART apps Intermountain and HSP Implementing SMART apps Duke Implementing SMART apps through exposed Epic services HCA Largest health system in America impelemting SMART Apps for clinical trials matching

51 Opportunities for Australia Do not follow the US into documentation doldrums Automation that augments clinicians Inspire young clinicians by allowing direct innovation Experiment with new diagnostic models Take risks where there is little hope. Accelerate empowered patients.

52 Australia, please lead the way! We Only Have Our Diseases To Lose Thank you.