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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: tripps@battelle.org

Report Authors:Simon Tripp, Martin Grueber and

Deborah Cummings