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Presentation given by Prof Fernando J Martin-Sanchez at the HISA (Health Informatics Society Australia) event "A Leap into E-Health" - see http://www.hisa.org.au/events/event_details.asp?id=211738 for further details - on 29th February 2012.
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“(Health) (Clinical) (Medical) (Translational),…
Bioinformatics”
HISA Victoria – A leap into eHealth 29 Feb 2012
Fernando J. Martin-Sanchez
Professor and Chair of Health Informatics Melbourne Medical School
& Director, Health and Biomedical Informatics Research (HBIR) Unit
Faculty of Medicine, Dentistry & Health Sciences
Objectives
• Terminology (What is xBioinformatics?) • Importance (Why should we care?) • Role of Informatics in Personalised medicine (How?)
Terminology and
Definitions (What?)
What is “Health and Biomedical Informatics”
Different “flavours” of Health Informatics
• Medical informatics • Nursing informatics • Pharma informatics • Dental informatics • Pathology informatics • ...
• Cancer informatics • Cardio informatics • Neuro informatics • Pain informatics • …
• Public health informatics • Clinical informatics • Research informatics • Consumer informatics • ...
• e-health • m-health • i-health • u-health • …
User
Specialty
Tech
Profession
AMIA endorsed framework – Based on T. Shortliffe’s idea
Different scope, different methods
Biomedical Informatics: Biomedical Information processing from particle to population
Altman RB, Balling R, Brinkley JF, Coiera E, Consorti F, Dhansay MA, Geissbuhler A, Hersh W, Kwankam SY, Lorenzi NM, Martin-Sanchez F, Mihalas GI, Shahar Y, Takabayashi K, Wiederhold G. "Commentaries on Informatics and medicine: from molecules to populations". Methods Inf Med. 2008;47(4):296-317.
Multilevel modeling, ontologies, data integration, data mining, …
Importance (Why?)
Current challenges in Medicine
• Need of earlier diagnosis • More personalized therapies • Risk profiling, disease predic8on and preven8on
• Improve disease classifica8on systems • Control health system costs • Clinical trials and the development of new drugs need to be more agile and effec8ve.
• Ci8zens could take more responsibility for the maintenance of their own health.
Why personalised medicine?
• To develop individualized treatment regimes to avoid failures, inefficiency and adverse reactions related to drug therapy
• To facilitate early diagnosis and advance in risk profiling, disease prediction and prevention
• To improve disease classification systems • Growing health system costs
• DNA Sequencer – designed to sequence the en4re human genome in a day for $1,000
Advances in genomic technology
Benchtop Ion Proton™
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Clinical applications of genomic information
• Pharmacogenetics - PMC • Molecular autopsy • Fetal DNA sequencing to preempt amniocentesis
• Cystic fibrosis – successful clinical trial for a specific mutation
• Identification of metabolic diseases
Role of Informatics in personalised
medicine (How?)
Genomic sensors Environmental sensors
Phenomic sensors
Biomarkers (DNA sequence, proteins, gene expression, epigenetics
Environmental risk factors (pollution, radiation, toxic agents, …)
Physiological, biochemical parameters (cholesterol, temperature, glucose, heart rate…)
Integrated personal health record
Patient data collection
Adapted from: Stead et al. 2011, Acad. Med.
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The role of Biomedical Informatics to facilitate Genomic Medicine
• Data acquisition at the point of care, including the use of new nanodevices for diagnosis and ultra DNA sequencing
• Data integration (putting into context molecular information from the patient with existing biomedical knowledge on the web and integrating it with the health record)
• Supporting decision making through new clinical guidelines, alerting systems which take into account the results of genetic testing and pharmacogenetics approaches
• Education of patients and health professionals in genomics and informatics
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AMIA definition
• Translational Bioinformatics is the development of storage, analytic, and interpretive methods to optimize the transformation of increasingly voluminous biomedical data, and genomic data, into proactive, predictive, preventive, and participatory health.
© Copyright The University of Melbourne 2011
Thank you for your attention!