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Genomic Medicine: A Revolution in Medical Practice in the 21 st Century

Genomic Medicine: A Revolution in Medical Practice in the 21 st Century. Francis S. Collins, M.D., Ph.D. National Human Genome Research Institute World Health Care Congress April 17, 2006. All of the original goals of the Human Genome Project have been accomplished. What’s next?.

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Genomic Medicine: A Revolution in Medical Practice in the 21 st Century

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  1. Genomic Medicine: A Revolution in Medical Practice in the 21st Century Francis S. Collins, M.D., Ph.D. National Human Genome Research Institute World Health Care Congress April 17, 2006

  2. All of the original goals of the Human Genome Project have been accomplished What’s next?

  3. Finding the genes that contribute to common conditions like cancer, diabetes, congestive heart failure, Parkinson’s disease, schizophrenia, autism, stroke, and osteoporosis is critically important. But until now, terribly difficult.

  4. Variant A Variant B

  5. www.hapmap.org

  6. The First HapMap Success Story:Age-Related Macular Degeneration Two other risk variants have been identified in the last two months. Together these account for 74% of risk, and point to powerful new approaches to prevention and treatment.

  7. Identify Genetic Defect(s) Diagnostics Preventive Medicine Time Disease with Genetic Component Accelerated by Human Genome Project and HapMap

  8. PKU Screening • All published studies show that PKU screening and treatment represent a net direct cost savings to society Phenylketonuria: Screening and Management NIH Consensus Statement Online 2000

  9. Uterine Cancer 48 Colon Cancer 51 Colon Cancer 56 Hereditary NonPolyposis Colon Cancer (HNPCC)

  10. Uterine Cancer 48 Colon Cancer 51 Colon Cancer 56 Identifying Those At Risk

  11. HNPCCScreening – is it cost-effective?Need to know… • Sensitivity, specificity, and timing of genetic test • Genotype-phenotype association • Prevalence of genetic mutations • Clinical outcome and severity • Interventions available for mutation carriers • Effectiveness of interventions

  12. Cost Results Depend on Family Relationships • Patients only = $42,210 per life-year gained • Patients + siblings + children = $7,556 per life-year gained Ramsey et al., Ann Intern Med 135:577-88, 2001

  13. Identify Genetic Defect(s) Diagnostics Preventive Medicine Time Disease with Genetic Component Accelerated by Human Genome Project and HapMap

  14. Overview of Procedures for Microarray Analysis of Tumor Samples Source: N Engl J Med, Vol 344 (8), 2001.

  15. ---- 95% confidence interval curves Recurrence score for individual patients Multigene Assay Predicts Recurrence of Tamoxifen-Treated, Node-Negative Breast Cancer Gene expression analysis was combined with an algorithm for calculating risk for distant recurrence of breast cancer. Source: Paik, et al., N Engl J Med, December 2004

  16. Gene Expression Profiling for Breast Cancer Recurrence:Economic Benefits? • Hypothetical Analyses: • Oncotype DX (Genomic Health) • Hornberger et al., Am J Manag Care. 2005; 11: 313-324 • MammaPrint – Netherlands/Agendia U.S. • Oestreicher et al., Genet Med 2005; 7:380-389

  17. Identify Genetic Defect(s) Pharmacogenomics Diagnostics Preventive Medicine Time Disease with Genetic Component Accelerated by Human Genome Project and HapMap

  18. Using Genetic Information to Predict Drug Metabolism:The AmpliChip CYP450 A range of drug metabolism phenotypes is observed for individuals based upon the particular cytochrome P-450 genes they possess. Source: Caraco, Y., N Engl J Med, 2004

  19. Predicted economic benefitof CYP2C9 testingfor warfarin dosing • Predict 1 major bleed prevented for every 44 patients screened ($135/assay) • $6,000 testing costs ~ cost of 1 major bleed • Neutral economic result, but significant improvement in patient outcome • Prospective trial needed Higashi and Veenstra, Am J Manag Care 2003; 9: 493-500

  20. Identify Genetic Defect(s) Pharmacogenomics Diagnostics • Therapeutic • Developments • Gene Therapy • Drug Therapy Preventive Medicine Time Disease with Genetic Component Accelerated by Human Genome Project and HapMap

  21. Gleevec™ – Specifically Targets • An Abnormal Protein, Blocking • Its Ability To Cause Chronic Myeloid Leukemia Chromosome 9;22 translocation Bcr-Abl fusion protein Bcr-Abl fusion protein Gleevec™ Normal CML

  22. Cost-Effective? • Gleevec as 1st line therapy for CML • 6 years increased survival over interferon-alpha therapy • $43,100/per life-year saved Reed et al, Cancer 101:2574-83, 2004

  23. 109th S.306 HR.1227 Type your question here and then click Search.

  24. Genomic Medicine:Predictive, personalized, and pre-emptive

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