Transcript Battelle Pancake Breakfast

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Key Applications of Genetic and
Genomic Testing (slide 1 of 2)
• Diagnosis of Disease: Whereby genetic or genomic tests are used to
screen a patient with a suspected disease (usually a hereditary genetic
disease) to positively identify the disease. This is genetic or genomic
testing applied to a symptomatic individual.
• Predictive Medicine: The presymptomatic testing of individuals to
determine the risk of developing adult onset diseases and disorders (such
as for Huntington’s disease or breast cancer.)
• Genotyping of Specific Disease: Such as the genotyping of a patient’s
specific HIV strain or cancer tumor to guide therapeutic approaches.
• Pharmacogenomics: Whereby genetic or genomic testing is used to
optimize drug therapies based on the patient’s genotype and known
genetic linkages to drug efficacy or toxicity.
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Key Applications of Genetic and
Genomic Testing (slide 2 of 2)
• Identity Testing: Whereby genetic testing assists in confidently
establishing identity, providing individual genetic identification profiles.
These profiles can be used to establish biological relatedness.
• Forensic Testing: Whereby genetic testing is used to establish the
identity of individuals based upon a specimen of blood, urine, or other
tissue.
• Carrier Screening: This involves testing unaffected individuals who carry
one copy of a gene for a disease that requires two copies for the disease
to be expressed.
• Newborn Screening: Whereby newborns are screened shortly after birth
for disorders that are treatable, but difficult to otherwise detect clinically.
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Size of the Genetic and Genomic
Testing Industry
• Total U.S. clinical laboratory testing market placed
at $62 billion (Source: G2)
• Needed to determine genetic and genomic testing
component of this
• Survey deployed to clinical labs by Battelle
determined genetic and genomic testing to be 9.5%
of the market ($5.9 billion)
• Used econometric technique of input/output analysis
to quantify direct and indirect impacts of the industry
within the U.S.
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Annual Economic Impact of the
U.S. Genetic and Genomic Testing
Sector
Category of
Impact
Jobs
Personal
Income
Value-Added
Output
(Business
Volume)
State/Local
Federal
Tax Revenue Tax Revenue
Direct Impacts
43,563
$2,504
$3,221
$5,890
$98
$448
Indirect Impacts
27,397
$1,417
$2,360
$4,118
$189
$290
Induced Impacts
45,326
$2,035
$3,614
$6,518
$370
$437
116,286
$5,956
$9,195
$16,526
$657
$1,175
2. 7
2.4
2.9
2.8
6.7
2.6
Total Impacts
Impact Multiplier
Source: Battelle analysis; IMPLAN U.S. 2009 Model
Personal Income: Measures cash, benefits and non-cash payments received by individuals in the economy.
Value-Added: Represents the difference between an industry’s or an establishment’s total output and the cost of its intermediate inputs.
Output: Is the dollar value of production (i.e., sales).
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Key Functional Benefits of Genetic and Genomic Testing
Definitive
Avoid misdiagnosis and associateddiagnosis
complications
and costs
of
Early interventions when
symptomatic
disease or
disorder
diseases are
easier
Optimize therapeutic
approaches to increase
Occupational
disease
prevention
and less expensive to treat
Detecting
disease
effectiveness or
disorder at
early
presymptomatic
Reduce adverse drug reactions and associated costs stage
Genetic and
Minimize the impact of devastatingGenomic
childhood diseases
Clinical
Laboratory
Avoidance of occupational/environmental
Testingrelated diseases
Enable
Personalized
movement
to a preventive
medicine/
Pharmacogenomics
Genetic &
Genomic
Testing
=
Improved
Health
vs. reactive model
+
Carrier-status
testing
Better
Outcomes
Preventive
medicine
guided by
genomic
testing
+
Lower
Costs
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INTO THE FUTURE
Definitive
P4 Medicine: Personalized, Predictive,
Preventive,
Participatory
diagnosis
of
Large-scale increases in
symptomatic
disease or
disorder
available tests
Clinical application
of whole genome sequencing
Occupational
disease
prevention
Detecting
disease or
disorder at
early
presymptomatic
stage
Significantly lowered disease burden
Genetic and
Genomic
Healthier workforce and higher productivity
Clinical
Laboratory
Genetic data-rich environment identifies
targets for drug discovery
Testing
Reduced
Personalized
time, cost
and
medicine/
Pharmacogenomics
failure rate for clinical trials
Preventive
medicine
guided by
genomic
testing
Opportunities to build on U.S. economic leadership in an innovative sector
Carrier-status
testing
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Contact
Simon J. Tripp
Senior Director
Battelle Memorial Institute
Technology Partnership Practice
Phone: 412-523-6895
E-mail: [email protected]
Report Authors:
Simon Tripp, Martin Grueber and
Deborah Cummings
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