PUBLIC HEALTH GENETICS: AN EMERGING INTERDISCIPLINARY FIELD FOR THE POST-GENOMIC ERA THIRD NATIONAL CONFERENCE ON GENETICS AND PUBLIC HEALTH 19 September.

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

A GOLDEN AGE FOR THE PUBLIC HEALTH SCIENCES

SEQUENCING THE HUMAN GENOME WILL GENERATE

AN AVALANCHE OF GENETIC INFORMATION TO BELINKED WITH INFORMATIONABOUT:

• NUTRITION AND METABOLISM• LIFESTYLE BEHAVIORS• DISEASES AND MEDICATIONS • MICROBIAL, CHEMICAL, PHYSICAL

EXPOSURES

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

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

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!

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

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

PRESIDENTIAL/CONGRESSIONAL COMMISSION

ON RISK ASSESSMENT AND RISK MANAGEMENT

("OMENN COMMISSION")

• PUT ENVIRONMENTAL PROBLEMS INTO PUBLIC HEALTH CONTEXT

• ENGAGE STAKEHOLDERS FROM THE START

FRAMEWORK FOR RISK MANAGEMENT

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

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

THE LEADING MEDICAL CAUSES OF DEATH

Listed CausesHeart Disease 720,000Cancers 505,000Cerebrovascular Disease 144,000“Accidents” 92,000Chronic Lung Disease 87,000Pneumonia & influenza 80,000Diabetes Mellitus 48,000Suicide 31,000Cirrhosis/liver disease 26,000HIV infection 25,000

TOTAL U.S. 2,100,000

2,100,000

“Real Causes”Tobacco 400,000Diet.activity patterns300,000Alcohol 100,000Microbial agents 90,000Toxic agents 60,000Firearms 35,000Sexual behavior

30,000Motor vehicles 25,000Illicit drug use 20,000

TOTAL U.S. 1,060,000

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

ETHICAL ISSUES

WISE CHOICES DEPEND UPON EXCELLENTSCIENCE, COMPASSIONATE VALUES,

EFFECTIVECOMMUNICATION, APPRECIATION OF DIVERSECULTURES AND PREFERENCES, OPENNESS TONEW KNOWLEDGE AND ALTERNATIVE VIEWS,COMMITMENT TO DISEASE PREVENTION ANDHEALTH PROMOTION, AND PROGRESS IN CLOSING THE GAPS BETWEEN DIAGNOSIS AND TREATMENT AND DISEASE AND PREVENTION.

HUMAN GENOME PROJECT, ETHICAL, LEGAL, SOCIAL ISSUES (ELSI) PROGRAM

• INTERDISCIPLINARY COMMUNICATION

• ANTICIPATION OF ISSUES

• EMPIRICAL STUDIES

• POLICY RECOMMENDATIONS

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