Personalized Health Care Initiative Workshop: "Understanding the Needs of Consumers in the Use of Genome-based Health Information Services". Presentation by Jeffrey Gulcher

07/07/2008

Presentation by Jeffrey Gulcher, M.D., Ph.D
Chief Scientific Officer
deCode Genetics

July 7, 2008
12:30PM-5:30PM
Ronald Reagan International Trade Center
Washington, DC

Disclaimer: The findings and conclusions of this presentation are those of the authors and do not necessarily represent the views of ASPE or HHS.

 

Clinical Validation (deCode genetics)

  • The genetic risk test for each disease is well-validated
  • Each genetic marker has been replicated in 5 to 60 separate populations
  • The realtive risk is derived from several thousands of patients and tens of thousands of controls - much larger than the data used to support most FDA - approved diagnostics and drugs
  • Markers are shown to be independent and are therefore combined by multiplying the risks together using a standard, validated method

Useful Genetic risk tests for common disease- are we there yet?

  • Heart attack -deCode MI (2 markers)
    • 21% of the general population has 1.5 fold risk for early heart attack and 1.3 fold risk regardless of age of onset (comparable to risk conferred be LDL-cholesterol
  • Prostate cancer-deCode proCa (8 markers)
    • 10% of the general population has average 2 fold risk, 1% has 3 fold risk (lifetime risk 48% )
  • Breast cancer - deCode BreastCa (8 markers)
    • 5% of the general poulation has 2 fold risk, 1% 3 fold risk (lifetime risk of 36%)
  • Type 2 Diabetes - deCode T2 (4 - 8 markers)
    • 10% of prediabete patients have two fold risk for quickly progressing to type 2 diabetes (50% to 70 % absolute risk within 3 to4 years)
  • Atrial fibrillation - deCode AF (2 markers)
    • 25% of the general population has average two-fold risk of AF (1.5 to3.6 fold)
    • Reveals that AF is a much greater cause for stroke than previoiusly recognized
    • 150,000 stroke and TIAs per year may be due to undiagnosed AF - discharged on the wrong drug for secondary stroke prevention
    • Focusing extra cardiac monitoring on test-positive patients may save Medicare Almost 1 Billion dollars after accounting for costs of tests
  • Glaucoma - deCode Glaucoma (3 markers)
    • 2.3 fold risk for more aggressive form of glaucoma leading to earlier blindness if unrecognized

A Case Study Demonstrating
Usefulness of a Genetic Risk Test

  • 48 year old white male in apparent good health,
    • His father diagnosed with localized prostate cancer ar age 70
    • patient with low normal PSA at age 42
  • deCode Prostate Cancer test results (8 markers combined)
    • Relative risk= 1.88 fold compared to general poulation risk for white males
    • Calculated lifetime risk= 1.88 x 16% =30%
    • Modestly higher risk for aggressive vs non-aggressive disease
  • High risk prompted early serum PSA test be primary care
    • PSA was high normal at 2.5ng/ml
  • High risk prompted referral to urologist
  • High risk prompted urologist to perform ultasound-guided biopsy
    • Positive for cancer in 3 out of 12 core biopsies - 15% volume
    • Intermediate grade tumor (Gleason score of 6)
  • Sugery after negative workup for metastasis -likely cure

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