Key Applications of Genetic and Genomic Testing (slide 1 of 2)

2. 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.

3. 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.

4. 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.

5. Annual Economic Impact of the U.S. Genetic and Genomic Testing Sector 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).

6. Key Functional Benefits of Genetic and Genomic Testing Avoid misdiagnosis and associated complications and costs Early interventions when diseases are easier and less expensive to treat Optimize therapeutic approaches to increase effectiveness Reduce adverse drug reactions and associated costs Minimize the impact of devastating childhood diseases Avoidance of occupational/environmental related diseases Enable movement to a preventive vs. reactive model Genetic & Genomic Testing Improved Health Better Outcomes Lower Costs = + +

7. INTO THE FUTURE P4 Medicine: Personalized, Predictive, Preventive, Participatory Large-scale increases in available tests Clinical application of whole genome sequencing Significantly lowered disease burden Healthier workforce and higher productivity Genetic data-rich environment identifies targets for drug discovery Reduced time, cost and failure rate for clinical trials Opportunities to build on U.S. economic leadership in an innovative sector

8. Simon J. Tripp Senior Director Battelle Memorial Institute Technology Partnership Practice Phone: 412-523-6895 E-mail: tripps@battelle.org Report Authors: Simon Tripp, Martin Grueber and Deborah Cummings Contact