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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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• 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.
Key Applications of Genetic and Genomic Testing (slide 2 of 2)
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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
JobsPersonal Income
Value-AddedOutput
(Business Volume)
State/Local Tax Revenue
FederalTax 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
Total Impacts 116,286 $5,956 $9,195 $16,526 $657 $1,175
Impact Multiplier 2. 7 2.4 2.9 2.8 6.7 2.6
Source: Battelle analysis; IMPLAN U.S. 2009 ModelPersonal 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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Avoid misdiagnosis and associated complications and costs
Early interventions when diseases are easier and less expensive to treat
Enable movement to a preventive vs. reactive model
Reduce adverse drug reactions and associated costs
Optimize therapeutic approaches to increase effectiveness
Minimize the impact of devastating childhood diseases
Avoidance of occupational/environmental related diseases
Key Functional Benefits of Genetic and Genomic Testing
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INTO THE FUTURE
P4 Medicine: Personalized, Predictive, Preventive, Participatory
Large-scale increases in available tests
Reduced time, cost and failure rate for clinical trials
Significantly lowered disease burden
Clinical application of whole genome sequencing
Healthier workforce and higher productivity
Genetic data-rich environment identifies targets for drug discovery
Opportunities to build on U.S. economic leadership in an innovative sector
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Contact
Simon J. TrippSenior DirectorBattelle Memorial InstituteTechnology Partnership Practice Phone: 412-523-6895E-mail: [email protected]
Report Authors:Simon Tripp, Martin Grueber and
Deborah Cummings