This presentation was given to the Epigenetics and Personalized Medicine Workshop sponsored by Genome Alberta held in Calgary on March 12, 2010. Sorry this is not available for download, but if you do wish to use it in whole or in part please contact Mike Spear at mspear@genomealberta.ca and we will try to accommodate.

1. Personalized Medicine:
The Next Big Thing in Clinical Medicine?
Genome Alberta
Calgary,
Calgary Alberta
March 12, 2010
Marvin J. Fritzler PhD MD
Professor of Medicine
Mitogen Advanced Diagnostics Laboratory
University of Calgary
©
Conflict of Interest
Dr. Marvin Fritzler does not hold shares in
and is not a paid consultant to Luminex
Corporation, 23andme, imaGenes, Google,
Pfizer or any of their distributors.
He is a consultant to ImmunoConcepts,
BioRad, INOVA Diagnostics, Mikrogen
GmbH and Dr. Fooke Laboratorien GmbH.
From Sports Illustrated
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2. What is Personalized Medicine (PM)?
• Personalized medicine is the concept that
information about a patient's genotype or gene
expression profile could be used to further tailor
medical care to an individual s needs Such
individual's needs.
information could be used to help stratify disease
status, select between different medications and/or
tailor their dosage, provide a specific therapy for
an individual's disease, or initiate a preventative
measure that is particularly suited to that patient at
the time of administration.
According to Wikipedia
Personalized Medicine: aka
• Individualized Medicine (Mayo)
• Designer Medicine
• Molecular Medicine
• Companion Medicine
• Prospective Medicine
• Theranostics
– Diagnostics/Therapeutics Partnering
• Translational Genomics
What is on the horizon...?
The Next “Big”
Advancement?
PERSONALIZED
MEDICINE
One size does not
fit all…..
Reviewed: Goldknopf IL.
Expert Rev. Mol. Diagn.
7: 339, 2007.
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3. Skeptics Abound
So, David, what have you got
against PM?
• ‘Unlike most other commodities, the cost of medical
therapeutics has continued to climb. PM, where
therapeutics will need to be designed to fill smaller and
smaller niches, will cause the cost of therapeutics to
“skyrocket” ‘.
skyrocket
• “Alas, the rocket is running out of fuel”
viz. the current economic downturn.
“Money is scarce” —funding for health care is maxed out.
• Trial and error approach is not cheaper either.
• The Answer: COSTCO vs. Nieman Marcus model.
David’s GPS Golf Cart
“Take The Guesswork Out of Your Game”
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4. For the skeptic:
Examples of PM
• Predictive — Preventative
– BRCA1/BRCA2 — mastectomy/ovarectomy??
– SNP for CytP450/VKORC1 — warfarin dosing
– CYPs — neuroleptic medications
• Targeted
– HER2 and HER2 receptor — Herceptin
– BCR-ABL — Gleevec (95% of CML)
• MRD (minimal residual disease): detect disease
with molecular markers before it clinically returns.
The Future: Patient Profiling
BIOMARKER Tests will include:
• GENOMICS
• Markers of SUSCEPTIBILITY
• Markers of PROTECTION
• PROTEOMICS
• Autoantibodies
• Markers of Inflammation
• Markers of Cell’s Life and Death
• METABOLOMICS/Metalomics
At the heart of PM
3.2 billion base pairs
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5. DNA Microarray Chips
40,000 probes
Proteomic Arrays
Tissue Array of
~40,000 proteins
screened with
patient’s serum
imaGenes GmbH, Berlin
B-Bridge International
DNA: The code of life
• But the “code” does not tell the whole story.
– “Irrelevant” code (junk DNA) is not junk
– Even the punctuation is important.
• “A woman without her man is nothing.”
• “A woman: without her, man is nothing.”
– What is “circulating DNA”?
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6. Meeting the Challenge of Genomics
• BUT the base sequence of genes
or “junk DNA”
not the whole story.
– Rapidly emerging field of epigenetics
• Your gene sequence on a card $1000
or the $399 economical approach
• 23andMe.com
The “SPIT KIT”: 23andMe
Personalized Health Information
• Microsoft Health Vault
– www.healthvault.com
• myPHR
– www.myphr.com
• Google Health
• Apple ComChart
• GE e-Health
Excellent Review: Allison M. Nature Biotechnology 26: 509, 2008
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7. Emerging Diagnostic Technologies
 Cell & Tissue Arrays: Euroimmun, ImmunoConcepts
 Line Assays: Euroline, InnoLIA, Mikrogen
 Addressable Laser Bead Assays: INOVA, Athena, BMD
 Antigen Arrays on Planar Surfaces: ImmunoConcepts
 Bioflash: INOVA
 Multiplexed Lateral Flow
p
 Microfluiditics: Lab on a chip
 Mass & NMR Spectroscopy
 Nanotechnology — nanobarcodes: Pronostics
Fabre S, Dupuy AM, Dossat N, et al. Clin Exp Immunol 153: 188, 2008.
Fabre S, Guisset C, Tatem L, et al. Clin Exp Immunol 155: 395, 2009.
Perspective: Diagnostics Industry
• The traditional diagnostics industry growth rate in
the order of 4% per annum.
• Products are very cost sensitive and have a
relatively short life cycle.
y y
• Not as successful attracting investment funding.
• Theranostics and PM opens new opportunities in a
small but rapidly growing niche market.
• Diagnostics are a target of pharma ‘takeovers’.
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8. Perspective: Therapeutics Industry
• The days of blockbuster drugs are over.
• One size does not fit all.
• Major expense due to adverse drug reactions
– > 2 million/year; 100,000 die = a 747 crashing
every 2-3 days.
• Class action law suits.
Perspective: Life Insurers & Health
Care Underwriters
• Responsibility for disclosure?
• Issues for those who pay for treatment.
– The cost of new diagnostic tests and individualized treatment may
be (initially) more expensive.
– Anticipation that the predictive potential of PM could avert:
• serious side effects of drugs
• treatments that simply do not work in subsets of patients
• more costly treatments that are required after the onset of a disease.
• Currently, less than 5% of all US private companies
reimburse for genetic tests
– Will the health care delivery system be able to deliver effective
"personalized medicine".
PERSONALIZED MEDICINE
THE BOTTOM LINE
Will it bring VALUE?
Value = COST
OUTCOMES
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9. What does Alberta have to offer?
• Highly Qualified People
– Growing interest in PM: Dr. Subrata Ghosh
• Strength of ‘heritage” investments
– AHFMR/AIHS
– ACB
– AMHB
– ACHF
• “Best in class”
– Genomics
– Proteomics
– Metabolomics
– Metagenomics
• Philanthropy
OMEGA — 
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