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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

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

but until now terribly difficult

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.

slide7

Variant A

Variant B

the first hapmap success story age related macular degeneration
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.

slide12

Identify Genetic Defect(s)

Diagnostics

Preventive

Medicine

Time

Disease with Genetic Component

Accelerated by

Human Genome

Project and

HapMap

pku screening
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

slide14

Uterine

Cancer

48

Colon

Cancer

51

Colon

Cancer

56

Hereditary NonPolyposis Colon Cancer (HNPCC)

slide15

Uterine

Cancer

48

Colon

Cancer

51

Colon

Cancer

56

Identifying Those At Risk

hnpcc screening is it cost effective need to know
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
cost results depend on family relationships
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

slide18

Identify Genetic Defect(s)

Diagnostics

Preventive

Medicine

Time

Disease with Genetic Component

Accelerated by

Human Genome

Project and

HapMap

slide19

Overview of Procedures for Microarray Analysis of Tumor Samples

Source: N Engl J Med, Vol 344 (8), 2001.

slide20

---- 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

gene expression profiling for breast cancer recurrence economic benefits
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
slide22

Identify Genetic Defect(s)

Pharmacogenomics

Diagnostics

Preventive

Medicine

Time

Disease with Genetic Component

Accelerated by

Human Genome

Project and

HapMap

using genetic information to predict drug metabolism the amplichip cyp450
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

predicted economic benefit of cyp2c9 testing for warfarin dosing
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

slide26

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

slide28

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

cost effective
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

slide32

109th

S.306

HR.1227

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