1. PUBLIC HEALTH GENETICS: AN EMERGING INTERDISCIPLINARY FIELD FOR THE POST-GENOMIC ERA THIRD NATIONAL CONFERENCE ON GENETICS AND PUBLIC HEALTH 19 September 2000 Gilbert S. Omenn, M.D., Ph.D. University of Michigan Ann Arbor, MI

2. A GOLDEN AGE FOR THE PUBLIC HEALTH SCIENCES SEQUENCING THE HUMAN GENOME WILL GENERATE AN AVALANCHE OF GENETIC INFORMATION TO BE LINKED WITH INFORMATIONABOUT: NUTRITION AND METABOLISM LIFESTYLE BEHAVIORS DISEASES AND MEDICATIONS MICROBIAL, CHEMICAL, PHYSICAL EXPOSURES

3. ALL OF THE PUBLIC HEALTH SCIENCES ARE NEEDED BIOSTATISTICS, STATISTICAL GENETICS, AND BIOINFORMATICS EPIDEMIOLOGY—BIOMARKERS, MECHANISMS, AND INTERVENTION TRIALS ENVIRONMENTAL AND OCCUPATIONAL HEALTH--- ECO-GENETICS PATHOBIOLOGY---INTERACTIONS OF THE HOST AND THE INFECTIOUS AGENTS HEALTH SERVICES AND HEALTH SERVICES RESEARCH

4. BOTH GENETICS AND PUBLIC HEALTH FOCUS ON POPULATIONS NEED MORE INFORMATION ABOUT HETEROGENEITY OF GENETIC PREDISPOSITIONS, ENVIRONMENTAL EXPOSURES, DISEASE RISKS, AND RESPONSES TO INTERVENTIONS EXPLICITLY RECOGNIZE CULTURAL, SOCIETAL, ETHNIC, AND RACIAL CONTEXTS ARE SENSITIVE TO RISKS OF DISCRIMINATION

5. CLINICAL GENETICS: A BRIDGE BETWEEN MEDICINE AND PUBLIC HEALTH COUNSELING AND TREATMENT FOR NUCLEAR OR EXTENDED FAMILIES OUTREACH IN THE COMMUNITY FOR PREVENTION SPECIFIC BIOCHEMICAL OR CHROMOSOMAL TESTS CHANGE PROBABILISTIC COUNSELING TO SPECIFIC DIAGNOSES FOR PATIENTS AND FOR SCREENING IN POPULATIONS PACE OF DISCOVERIES AND APPLICATIONS ACCELERATING NEED FOR EDUCATION ABOUT GENETICS FOR HEALTH PROFESSIONALS—AND ABOUT PUBLIC HEALTH FOR GENETICISTS!

6. HEMOCHROMATOSIS: TO SCREEN OR NOT TO SCREEN? IF NOT NOW, WHEN? Common disorder: 1/400 (Celtic origin) Iron overload with organ damage Evolutionary benefit to women Simple treatment/prevention: venesections Screening feasible with serum: transferrin saturation, ferritin, HFE mutant alleles Consensus Conference: wait till fully understand the disease & implications

7. ECO-GENETICS REGULATORY REQUIREMENTS: OSHA: "SUCH THAT NO WORKER SHALL SUFFER ADVERSE EFFECT..." CLEAN AIR ACT: "SO AS TO PROTECT THE MOST SUSCEPTIBLE SUBGROUP IN THE POPULATION" FOOD QUALITY PROTECTION ACT: ADDRESS RISK FOR VULNERABLE AND/OR UNUSUALLY EXPOSED SUBGROUPS

8. PRESIDENTIAL/CONGRESSIONAL COMMISSION ON RISK ASSESSMENT AND RISK MANAGEMENT ("OMENN COMMISSION") PUT ENVIRONMENTAL PROBLEMS INTO PUBLIC HEALTH CONTEXT ENGAGE STAKEHOLDERS FROM THE START

9. FRAMEWORK FOR RISK MANAGEMENT

11. INFECTIOUS DISEASE AND HOST/PARASITE INTERACTIONS PLASMODIUM FALCIPARUM AND MALARIA MYCOBACTERIUM TUBERCULOSIS AND TB HUMAN IMMUNODEFICIENCY VIRUS (HIV) I AND AIDS HEPATITIS B VIRUS AND CHRONIC HEPATITIS B VIBRIO CHOLERAE AND CHOLERA

12. NUTRITION AND GENETICS: BRINGING MODERN BIOLOGY TO NUTRITION Dietary components induce polymorphic carcinogen-activating and detoxifying enzymes (phase I, II biotransformation) Genetic factors in obesity, diabetes… MTHFR polymorphic mutation reduces folate levels, which allow higher homocysteine levels--with CV and CA risks

13. THE LEADING MEDICAL CAUSES OF DEATH Listed Causes Heart Disease 720,000 Cancers 505,000 Cerebrovascular Disease 144,000 “Accidents” 92,000 Chronic Lung Disease 87,000 Pneumonia & influenza 80,000 Diabetes Mellitus 48,000 Suicide 31,000 Cirrhosis/liver disease 26,000 HIV infection 25,000 TOTAL U.S. 2,100,000 2,100,000 “Real Causes” Tobacco400,000 Diet.activity patterns300,000 Alcohol100,000 Microbial agents 90,000 Toxic agents 60,000 Firearms 35,000 Sexual behavior 30,000 Motor vehicles 25,000 Illicit drug use 20,000 TOTAL U.S. 1,060,000

14. SMOKING: GENES INVOLVED IN INITIATION, MAINTENANCE, CESSATION, RECURRENCE OF SMOKING BEHAVIOR (DOPAMINE LIMBIC PATHWAYS/ RECEPTORS) ALCOHOLISM: DOPAMINE RECEPTOR AND TRANSPORTER GENES SEROTONIN RECEPTOR AND TRANSPORTER GENES ALCOHOL METABOLISM GENES GENES INFLUENCING SUSCEPTIBILITY OF TARGET ORGANS—LIVER, PANCREAS, CEREBELLUM, HEART, FETAL DEVELOPMENT

15. ETHICAL ISSUES WISE CHOICES DEPEND UPON EXCELLENT SCIENCE, COMPASSIONATE VALUES, EFFECTIVE COMMUNICATION, APPRECIATION OF DIVERSE CULTURES AND PREFERENCES, OPENNESS TO NEW KNOWLEDGE AND ALTERNATIVE VIEWS, COMMITMENT TO DISEASE PREVENTION AND HEALTH PROMOTION, AND PROGRESS IN CLOSING THE GAPS BETWEEN DIAGNOSIS AND TREATMENT AND DISEASE AND PREVENTION.

16. HUMAN GENOME PROJECT, ETHICAL, LEGAL, SOCIAL ISSUES (ELSI) PROGRAM INTERDISCIPLINARY COMMUNICATION ANTICIPATION OF ISSUES EMPIRICAL STUDIES POLICY RECOMMENDATIONS

17. PRINCIPLES FOR COMMUNITY-BASED RESEARCH Community partners should be involved with professional health researchers from the earliest stages of research efforts. Community partners should have real influence on the research project. Research processes and outcomes should benefit the community-- -sooner rather than later. Community members should be part of the analysis and interpretation of results. Productive partnerships should last beyond the individual project. Community members should be empowered to initiate projects hopefully seeking out physicians and other health experts to be their partners. Developed at University of Washington/Harborview Medical Center and School of Public Health and Community Medicine Annual Review of Public Health 21(10) 2000