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An Innovation Revolution —
How Genetic Testing is Improving
Health and the Economy
Kenneth Sisco, MD, PhD, FCAP
Medical Director
Quest Diagnostics
March 17, 2011
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Medicine of the past: “Trial-and-Error” medicine
Observe
Diagnose
Treat
Monitor
response
Adjust
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Trial-and-error medicine often works, but…
Treatment
Disease
Treatment
Treatment
Treatment
Treatment
Treatment
Treatment
Treatment
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Trial-and-error medicine is often imprecise
One-year survival rate for certain cancers
Lack of
Efficacy
Cost of
Ineffective
Care
High blood
pressure
20 %
$800 M
Depression
35 %
$ 4.7 B
Cardiovascular
55 %
$8B
Disease
Brain, nervous system
Stomach
Lung, bronchus
Liver, bile duct
Pancreas
0
20
40
60
80
100
Delays in care
Costs
Disease
Inappropriate or
unnecessary utilization
Side-effects
100,000 new cases early-stage breast cancer
Every year in U.S., adverse
drug reactions =
(estrogen-Receptor positive; node negative)
Standard practice in 90% = chemo
•100,000 deaths
(after surgery/radiation)
•2,000,000 ADRs
70% receive no benefit from chemo
Source: M Aspinall presentation, 2008;Harvard
Business Review 2007; Mayo Clinic; NIH
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Personalized medicine: precise diagnosis and treatment
Observe
Diagnose
Precisely
Disease
Treat
Precisely
Treatment
Manage
Trial and Error Medicine
Personalized Medicine
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With new knowledge about the disease, we can…
Diagnose more precisely
More effective treatment
Select specific treatment
that best fits disease
Avoid adverse drug reaction
Avoid delay from false starts
Predict risk before
symptoms occur
Earlier treatment
Preventive action
Manage more effectively
Better timing
Adjustments as disease changes
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Diagnose disease more precisely
Genetic tests identify DNA of childhood leukemia, enabling
physicians to choose the treatment that fits it precisely.
•
•
Acute lymphoblastic
leukemia is most common
form of childhood leukemia
Genetic tests identify
subtypes; allow precise
treatment and timing
The impact of genetic tests and genome-based
cancer drugs on survival of childhood leukemia
90
80%
80
70
60
50
40
•
Today’s cure-rate
exceeds 80% vs. 4% in
the 1960s
30
20
10
4%
0
1962
Source: New England Journal of Medicine, 2006, 200l;
Personalized Medicine Coalition, 2006.
2007
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Select treatment based on genetic fingerprint
Genetic tests identify the genetic makeup and rapid mutation of an
individual’s HIV virus and pinpoint the most effective drug.
16
14
12
10
8
6
4
2
Source: Journal of American Medical Association,
2006; New England Journal of Medicine, 1998; Centers
for Disease Control and Prevention
01
20
99
19
97
19
95
19
93
19
91
19
19
89
0
87
The reason: Genetic tests tell
docs which drug combo will
work best
– Tests also let docs adjust
drugs to combat fastmorphing virus
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Deaths per 100,000
•
Genetic tests + HIV drugs = a
“one-two” punch…
– Dramatic decline in deaths
– Patients live normal lives
– From “Killer” to “Chronic”
19
•
The effect of lab tests combined with
anti-HIV drugs
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Predict risk before symptoms appear
Genetic test identifies variations in the BRCA 1 and BRCA 2 genes that
increase risks for breast and ovarian cancer.
•
•
Genetic tests identifies
increased hereditary risk for
breast and ovarian cancer
Lifetime risks: 35-85% of
BRCA women will develop
breast cancer vs 13.2
percent for others
Lifetime risk of developing breast cancer…
…with BRCA 1 and 2 = 36% - 85%
…without = 13%
Lifetime risk of developing ovarian cancer…
•
Knowledge of increased risk
allows preventive measures
–
–
–
closer monitoring,
risk avoidance,
preventive surgery or
chemotherapy
…with BRCA 1 and 2 = 16% - 60%
…without = 1.7%
Source: National Cancer Institute
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Genetic tests can begin to transform health costs
Rx = $300 Billion
Annually
•
•
US spends $300 Billion
on pharmaceuticals
each year
Genetic tests can help
physicians better target
–
•
75%
Non therapeutic
responders =
$60B - $225 Billion
annually
Right patient, right drug
As a result, potential
savings through better
targeting via genetic
testing
20%
Potential savings via
better targeting:
Up to $110 Billion
Source: M Aspinall, Harvard Business Review, 10/2007;
Spear,Trends in Molecular Medicine, 5/2001; IMS, 2010
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Genetic testing helps get right drug, to right patient
Percentage of patients for which standard drug treatment
provides effective therapy is shown in blue.
0
20
40
60
80
100
Cancer
Alzheim er's
Incontinence
Hep C
Osteoporosis
R. Arthritis
Migraine
Migraine (acute)
Diabetes
Asthm a
Cardiac Arryth
Schizophrenia
Depression
Source: Aspinall, Harvard Business Review, October, 2007;
Spear,Trends in Molecular Medicine, May 2001
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Greater economy through more precise dosing
Genetic tests for dosing of warfarin cut hospitalization
Genetic test leads to drop in hospitalization
•
Warfarin = most common
drug thinner
•
Very difficult to dose
–
–
•
Overall
Clots/Bleeding
Too much = bleeding
Too little = strokes
Genetic testing to guide
physicians in dosing:
–
–
–
Now on FDA label
JACC study (6/10) shows
31% drop in hospitalization
2006 Brookings/AEI estimate:
$1.1 billion savings annually
Source: Journal of the American College of
Cardiology, June, 2010; Brookings/AEI, 2006
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Breast cancer: getting right drugs to right patients
•
•
Cost of Herceptin per Patient
200,000 new breast
cancer cases annually
30% have overabundance
of HER2 protein
–
•
Savings: $24K
per patient
$54,738
So regular chemo doesn’t
help; Herceptin does
Genetic testing tells
doctors which patients
have HER2
–
•
$79,181
Reduces risk of death by 33%
and risk of recurrence by 52%
$24K savings per patient
Without HER2 Test
Source: M. Aspinall, Presentation, 3/28/08; J Clin
Oncol (2004) ; NEJM (2005)
With HER2 Test
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Metastatic colon cancer: right drugs, right patients
Cost of drug per patient: $71,120
•
40% of patients with metastatic colon
cancer do NOT benefit from standard
therapy
–
KRAS gene mutation
•
Genetic test identifies those patients
•
Testing = select right drug; avoid
ineffective treatment; reduce adverse
events = $ savings
•
One estimate: $700 million savings
annually if test is done before
prescribing drug.
Cost of test per patient: $452
Source: Shankaran, V, et al, ”Economic Implications
of KRAS testing in metastatic colorectal cancer,”
Paper presentation, ASCO, 2009; Manci, Am J
Health-Syst Pharm., 2009
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What does the future hold?
• Molecular approaches in screening and monitoring an
increasing number of cancer types
• Molecular approaches in treating inherited gene
mutations, as well as acquired diseases
• Evolution of point-of-care testing, as well as microarray
analysis of disease susceptibility
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