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Transcript
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 BE
LINKED 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 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
“Real Causes”
Tobacco
400,000
Diet.activity patterns
Alcohol
Microbial agents 90,000
Toxic agents
Firearms
Sexual behavior
Motor vehicles
Illicit drug use
TOTAL U.S.
TOTAL U.S.
2,100,000
300,000
100,000
60,000
35,000
30,000
25,000
20,000
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 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.
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