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MEDICINE
of
Personalized Medicine
The ability to offer
The Right Drug
To The Right Patient
For The Right Disease
At The Right Time
With The Right Dosage
Genetic and metabolic data
will allow drugs to be
tailored to patient
subgroups
Family history
Socioeconomic circumstances
Environmental factors
Now:
genomic/genetic testing
proteomic profiling
metabolomic analysis (study metabolites)
Effectiveness of drugs:
Danger of drugs:
6.7% of patients in hospitals experience serious drug
reactions
Old Paradigm:
New Paradigm:
Future Paradigm:
or SNPs?
Can we associate SNPs with medical
(SNPs)
A
A
Most Common
SNP
A
SNPs arise as a consequence of mistakes
during normal DNA replication
Average frequency 1/1000
Deletion
Insertion
Translocation
Pros
Early warning about predisposition could promote
healthier lifestyles
Better patient confidentiality
Cons
Commercialization is testing really necessary?
Lacks regulation that would ensure accurate risk
assessments
Is the data more harmful than helpful without
context?
Is it beneficial to be informed that you are at high
risk to develop a disease for which there is no cure?
Testing of third parties and their privacy
Source: Howard et al. Future Medicine 2008; 5(4):317-320
Pharmacogenetics
Study of genetic variation that gives rise to
Pharmacogenomics
Better medication choices
http://content.nejm.org/cgi/content/full/348/
6/538
Nine possible
combinations of drugmetabolism and drugreceptor genotypes and
the corresponding drugresponse phenotypes.
Each yields a different
therapeutic index
(efficacy:toxicity ratios)
ranging from 13 (65
percent:5 percent) to
0.125 (10 percent:80
percent).
Proteomic Profiling
Relevant in the identification and predisposition to
disease
Joshs presentation.
Metabolomic Analysis
First from urine analysis
Networks of metabolite feedback pathways
Metabolomic Analysis
Metabolite
target
analysis
Metabolic
profiling
Metabolomi
cs
group of
all
metabolites, i.e
metabolites,
those associated
present in a
with a specific
cell or sample.
pathway.
Comprehensiv
Extraction
e
method (capillary
analysis of
electrophoresis,
gas or liquid
entire
chromatography)
metabolome
specially
under a given
designed for
set of
compounds in
conditions.
class to eliminate
unwanted/
irrelevant
http://swift.cmbi.ru.nl/euroschool/meta_seminar
metabolites.
focus on
one specific
metabolite
1.pdf
Metabolite
fingerprintin
g
the intention
is not to
identify each
observed
compound but
to
compare
patterns or
fingerprints of
metabolites
that change in
response to
disease or
toxin
exposure. Use
statistical
Applications of Personalized
Medicine
SOME BRIEF CASE STUDIES
Gentamicin treatment in
DMD/BMD
Aminoglycoside antibiotic synthesized by Micromonospora
Works by binding the 30S subunit (inhibition site) of the
Irinotecan
Treatment for cancer that works by
Selzentry (Pfizer)
CCR5-tropic HIV treatment (CD4 immune cells)
Ineffective for CXCR4-tropic strains of HIV
profile assay to determine patients strain of HIV
Detect virus that does not act through CCR5 at levels as low as
0.3% of a viral population
Edward Abrahams
Personalized Medicine Coalition, 2007
error
Customized pharmaceuticals may eliminate life-
The End
OR IS IT JUST THE BEGINNING?...