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Genomics and Public Health Richard Cooper, MD Department of Preventive Medicine Loyola Stritch School of Medicine

Genomics and Public Health Richard Cooper, MD Department of Preventive Medicine Loyola Stritch School of Medicine . Candidates for Genetic Screening Tests in Adults. Gene Condition HFE Hereditary hemochromatosis APOE 4 Alzheimer’s CYP2D6 Cytochrome P452 activity

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Genomics and Public Health Richard Cooper, MD Department of Preventive Medicine Loyola Stritch School of Medicine

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  1. Genomics and Public Health Richard Cooper, MD Department of Preventive Medicine Loyola Stritch School of Medicine

  2. Candidates for Genetic Screening Tests in Adults GeneCondition HFE Hereditary hemochromatosis APOE 4 Alzheimer’s CYP2D6 Cytochrome P452 activity BRCA 1 Breast cancer BRCA 2 Breast cancer Factor V Leiden Venous thrombosis APC Familial adenomatous polyposis

  3. Potential Impact of Molecular Genetics on Medicine and Public Health • Prenatal screening / Diagnostic testing • Gene therapy • Define susceptibility to common disease • Drug discovery / Predicting drug response • Explain health disparities

  4. The Lifetime Risk of Breast Cancer in Ashkenazi Jewish Carriers of BRCA1 and BRACA2 Mutations. Satagopan et al, Cancer Epi Biomark Prev, 2001 AgeCasesControlOdds Ratio <40 BRCA 1 25.0(%) 1.6 21.6 BRCA 2 2.8 1.2 3.3 40-49 BRCA 1 9.3 1.1 9.6 BRCA 2 2.9 0.9 3.3 >50 BRCA 1 3.9 0.6 7.6 BRCA 2 3.0 0.7 4.6

  5. Prevalence of Sickle Cell Disease by Racial or Ethnic group, per 100,000 live births, US, 1990 Racial or Ethnic Group Prevalence White 1.7 Black 289 Hispanic, total 5.3 Hispanic, Eastern States 89.8 Hispanic, Western States 3.1 Asian 7.6 Native American 36.2

  6. Gene Therapy Gene therapy trials halted; New York Times, January 15, 2003

  7. Estimated World Population Structure Based on 52 Populations (Rosenberg et al, Science, 2002)

  8. Estimated Population Structure for Regions

  9. Incidence of β-Thalassemia in Sardinia, Greece and Cyprus, 1975 - 2000

  10. Molecular Genetics and the Core Functions of Public Health The central function of public health is to prevent common source epidemics. Can molecular genetics support that role – through: Surveillance Prevention Treatment Insights into physiology Defining causal pathways Removing causal exposures

  11. A Comprehensive Review of Genetic Association Studies Hirschhorn et al, Genetics in Medicine, 2002 Reviewed 603 “positive” reports of gene-disease association. Only 6 were reproducible (positive in >75% of reports)

  12. Potential Areas of Concern in the Application of Genomics Stigmatization of individuals and populations Intense commercialization Limited applicability in poor countries Promotes genetic determinism Poses technology as a solution to social problems

  13. “Mass disease means society is out of joint” Rudolf Virchow

  14. Incorporating Technology into Public Health Germ Theory Antimicrobials X-rays Vaccination Biochemistry ? Molecular Genetics

  15. Activity Expenditure vs. % Body Fat Jamaican Adults, n=35 60 Men (n=16) 50 Women (n=19) 40 % Body Fat 30 20 10 0 0 10 20 30 40 50 Activity Energy Expenditure (kcal/kg/d)

  16. Health Status Measures in Racial/Ethnic Groups in the US, 1998 White Black Hispanic Asian Cause of Death Age – Adjusted Death Rates All Causes Hearth Disease Coronary Heart Disease Stroke Cancer COPD Pneumonia / Influenza Liver disease / Cirrhosis Diabetes mellitus HIV infection External causes 450.4 121.9 79.2 23.3 121.0 21.9 12.7 7.1 12.0 2.6 46.7 690.9 183.3 92.5 41.4 161.2 17.7 17.4 8.0 28.8 20.6 68.8 432.8 84.2 54.7 19.0 76.1 8.5 9.8 11.7 18.4 6.2 44.7 264.6 67.4 42.9 22.7 74.8 7.4 10.3 2.4 8.7 0.8 24.4 Infant Mortality Life Expectancy 6.0 77.3 13.6 71.3 5.8 >80? 5.5 >80?

  17. 100 80 60 40 20 0 30 40 50 60 70 80 90 Penetrance of BRCA 1 and BRCA 2 by Age Penetrance Estimated Age

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