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The Impact of the Human Genome Project on Public
Health Practice
Elizabeth (Betsy) Gettig, MS, CGC
University of Pittsburgh
GENETICS IN THE POPULAR PRESS: HEADLINES, 1999
• Racing to map our DNA• From Mendel to Monica• Good Eggs, Bad Eggs• Designer Babies• Who Gets the Good
Genes?• Fixing the Genes
Your Genetic ID Card?!• The day of the personal DNA
profile provided at birth, complete with calculated risks of various cancers, heart disease, and many other conditions could be actuality by the time that current first-year medical students begin to practice medicine
• E. Hoffman Am J Hum Genet 1994
Genetic Variation is the UltimatePublic Health Problem
“We are all at risk for something”
Francis Collins
M.D., Ph.D.,
Director, NHGRI
1996
Genetics and Public Health: An overview
• Genetics and Public Health: The Rationale
• Genetics and Public Health: The Interface
• Genetics and Public Health Functions in the 21st Century
• Genetics and Public Health: Critical Issues
What is Public Health?
• The mission of public health is to "fulfill society's interest in assuring conditions in which people can be healthy.”
• Institute of Medicine, Committee for the Study of the Future of Public Health, Division of Health Care Services. 1988. The Future of Public Health. National Academy Press, Washington, DC
Institute of Medicine The Future of Public Health (1988)
• Assessment
• Policy Development
• Assurance and Evaluation
Importance of Public Health
• "Health care is vital to all of us some of the time, but public health is vital to all of us all of the time.”
»C. Everett Koop
Diagnose & Investigate
Monitor Health
Inform, Educate, Empower
Mobilize Partner-
shipsDevelop Policies
Enforce Laws
Link to / Provide
Care
Assure Competent Workforce
Evaluate
Research
Sy s t e m
Ma
n
ag e m
en
t
Public Health Functions
Project, Office of
Disease Prevention &
Health Promotion,
Office of Public Health
& Science, US
Department of Health &
Human Services
(1994)
Public Health in America
What is Public Health Genetics?
• Public Health Genetics is defined as the application of advances in genetics and molecular biotechnology to improve public health and prevent disease.
University of Washington
Integrating Genetics into Public Health
Diagnose & Investigate
Monitor Health
Inform, Educate, Empower
Mobilize Partner-
shipsDevelop Policies
Enforce Laws
Link to / Provide
Care
Assure Competent Workforce
Evaluate
Research
Sy s t e m
Ma
n
a g e m
en
t
• Assessment: The regular systematic collection, assembly, analysis, and dissemination of information, including genetic epidemiologic information, on the health of the community.
• Policy Development: The formulation of policies, in collaboration with stakeholders, that promote the effectiveness, accessibility, and quality of genetic tests and services.
• Assurance: The assurance to constituents that genetic tests and services meet agreed upon goals for effectiveness, accessibility, and quality.
Essential Services: Assessment
Diagnose & Investigate
Monitor Health
Inform, Educate, Empower
Mobilize Partner-
shipsDevelop Policies
Enforce Enforce LawsLaws
Link to / Link to / Provide Provide
CareCare
Assure Assure Competent Competent WorkforceWorkforce
Evaluate
Research
Sy s t e m
Ma
n
a g e m
en
t
• Monitor Health: Monitor health status to identify health problems, including those that have a known genetic component, within the community.
• Diagnose & Investigate: Investigate the distribution of genetic and environmental risk factors within the community to determine their contribution to identified health problems and to improve health outcomes.
Essential Services: Policy
Diagnose & Investigate
Monitor Health
Inform, Educate, Empower
Mobilize Partner-
shipsDevelop Policies
Enforce Laws
Link to / Provide
Care
Assure Competent Workforce
Evaluate
Research
Sy s t e m
Ma
n
a g e m
en
t
• Inform, Educate, Empower: Facilitate communication and education about the integration of genetics into health promotion and disease prevention programs.
• Mobilize Partnerships: Foster collaboration among public and private agencies and constituent groups to promote effective and efficient policy making.
• Develop Policies: Establish policies and guidelines for when and how genetic tests should be applied to promote health and prevent disease.
Essential Services: Assurance
Diagnose & Investigate
Monitor Health
Inform, Educate, Empower
Mobilize Partner-
shipsDevelop Policies
Enforce Laws
Link to / Provide
Care
Assure Competent Workforce
Evaluate
Research
Sy s t e m
Ma
n
a g e m
en
t
• Enforce Laws: Promote the enforcement of policies and standards enacted to ensure the effectiveness, accessibility, and quality of genetic tests and services.
• Link to / Provide Care: Ensure the availability and accessibility of intervention strategies that incorporate genetic tests and services that improve health and prevent disease.
• Assure Competent Workforce: Ensure that present & future health professionals have appropriate training and skills in the use of genetic tests and services to promote health and prevent disease.
• Evaluate: Evaluate the effectiveness, accessibility, and quality of genetic tests and services.
Examples of the Integration of Genetics Into Public Health
Functions in the 21st century• Investigating Clusters of Cancer in Communities• Developing Policies for using Genetic Testing to
Prevent Iron Overload in the United States • Population Analysis of the Impact of Asthma
Interventions Based on Individual Susceptibility• Evaluating Prevention Effectiveness of a National
Campaign for Early Detection of Colon Cancer • National Assurance Program to Monitor Utilization,
Effectiveness and Impact of Genetic Testing
Assurance and EvaluationExamples
• CDC Newborn Screening Quality Assurance Program
• Evaluation of Morbidity/Mortality from Sickle Cell Disease Following Newborn Screening
Human Genes and Disease 1999:Looking to the 21st Century
• Human Genes 100,000
• Genes Found 10,000
• Genetic Tests 600
# Genes Reported for Selected Conditions (1999)
Source: Online Mendelian Inheritance in Man • Mental Retardation 864
Inborn Errors of Metabolism 611
• Congenital Anomalies 578• Cancer 518• Anemia 319• Infection 311• Diabetes 287• Thyroid Disorders 240• Dementia 136• Arthritis 110
From Gene Discovery to Medical Practice
How Do We Get From Here to There? – Gene Discovery
• Gene Mapping & Sequencing
• Developing Genetic Tests
–Health Care» Access to Genetic
Tests and Services
» Assuring the Quality of Genetic Tests and Services
Genetics:“The Next Revolution in Public
Health”• Medicine
• Drugs for treatment and prophylaxis that are individually tailored to each person’s genetic background
• Public Health
• Prevention strategies involving behavioral, environmental, social and nutritional factors that are individually tailored to each person’s genetic background
Pharmacogenomics“The Next Revolution In Medicine”• In the very near future,
primary care physicians will routinely perform genetic tests before writing a prescription because (they will) want to identify the poor responders.
• Francis Collins M.D, Director, NHGRI
• American Academy of Family Physicians Annual Meeting 1998
Drugs By Design
• Talk to anyone in the pharmaceutical industry, you will discover that genetics is the biggest thing to hit drug research since a penicillum mold floated into Alexander Flemings’ petri dish.
• Time, January 11, 1999
Translating Advances in Human GeneticsInto Disease Prevention and Health
PromotionCritical Issues
• Partnerships and coordination
• Ethical, Legal and Social Issues
• Training and Education
Translating Advances in Human GeneticsInto Disease Prevention and Health
PromotionCritical Role of Partnerships
• Within Federal government
• Federal-State-Local
• Medicine and Public Health
• Public-Private-Academic
• Community and Consumer Involvement
Resources• Office of Genetics and Disease Prevention
• National Human Genome Research Institute (NHGRI) - Human Genome Project
• Health Resources and Services Administration (HRSA) - MCHB -Genetic Services Branch
• Professional Societies
• National Society of Genetic Counselors
• American Society of Human Genetics
• American College of Medical Genetics
