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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HISA 29 Feb 2012 - BioInformatics
1. “(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
2. Objectives
• Terminology (What is xBioinformatics?)
• Importance (Why should we care?)
• Role of Informatics in Personalised medicine (How?)
8. Biomedical Informatics: Biomedical Information
processing from particle to population
Multilevel modeling, ontologies, data integration,
data mining, …
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.
10. 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.
11. 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
12. Advances in genomic technology
• DNA
Sequencer
–
designed
to
sequence
the
en4re
human
genome
in
a
day
for
$1,000
Benchtop
Ion
Proton™
15. 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
19. 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
19
1
20. 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.