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1. 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.

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Presentation on theme: "1. 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."— Presentation transcript:

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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 3 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)

4 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 5 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 Tax Revenue Federal Tax Revenue Direct Impacts43,563$2,504$3,221$5,890$98$448 Indirect Impacts27,397$1,417$2,360$4,118$189$290 Induced Impacts45,326$2,035$3,614$6,518$370$437 Total Impacts116,286$5,956$9,195$16,526$657$1,175 Impact Multiplier Source: Battelle analysis; IMPLAN U.S 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 6 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 Genetic & Genomic Testing = Improved Health Better Outcomes Lower Costs ++ Key Functional Benefits of Genetic and Genomic Testing

7 7 Genetic and Genomic Clinical Laboratory Testing Definitive diagnosis of symptomatic disease or disorder Detecting disease or disorder at early presymptomatic stage Preventive medicine guided by genomic testing Carrier-status testing Personalized medicine/ Pharmaco- genomics Occupational disease prevention 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

8 8 Contact Simon J. Tripp Senior Director Battelle Memorial Institute Technology Partnership Practice Phone: Report Authors: Simon Tripp, Martin Grueber and Deborah Cummings


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