1. The Impact of the Human Genome Project on Public Health Practice
Elizabeth (Betsy) Gettig, MS, CGC
University of Pittsburgh

5. 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

6. 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

7. Genetic Variation is the Ultimate Public Health Problem
1996
“We are all at risk for something”
Francis Collins
M.D., Ph.D.,
Director, NHGRI

8. 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

9. 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 The Future of Public Health. National Academy Press, Washington, DC

10. Institute of Medicine The Future of Public Health (1988)
Assessment
Policy Development
Assurance and Evaluation

11. 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

12. Public Health in America
Public Health Functions Project, Office of Disease Prevention & Health Promotion, Office of Public Health & Science, US Department of Health & Human Services (1994)
Assessment
Assessment
Monitor Health
Evaluate
Assure Competent Workforce
Assurance s t
Diagnose & Investigate y e m S
Assurance
Link to / Provide Care
Research
Inform, Educate, Empower M t a n n e a m g e
Enforce Laws
Mobilize Partner-ships
Policy Development
Develop Policies
Policy Development

13. 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

14. Integrating Genetics into Public Health
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.
Assessment
Monitor Health
Evaluate
Assure Competent Workforce
Diagnose & Investigate s t y e S m
Assurance
Link to / Provide Care
Research
Inform, Educate, Empower M t a n n
Policy Development e a m g e
Enforce Laws
Mobilize Partner-ships
Develop Policies

15. Essential Services: Assessment
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.
Monitor Health
Evaluate
Assure Competent Workforce
Diagnose & Investigate s t y e S m
Link to / Provide Care
Inform, Educate, Empower
Research M t a n n e a m g e
Enforce Laws
Mobilize Partner-ships
Develop Policies

16. Essential Services: Policy
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.
Monitor Health
Evaluate
Assure Competent Workforce
Diagnose & Investigate s t y e S m
Link to / Provide Care
Research
Inform, Educate, Empower M t a n n e a m g e
Enforce Laws
Mobilize Partner-ships
Develop Policies

17. Essential Services: Assurance
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.
Monitor Health
Evaluate
Assure Competent Workforce
Diagnose & Investigate s t y e S m
Link to / Provide Care
Research
Inform, Educate, Empower M t a n n e a m g e
Enforce Laws
Mobilize Partner-ships
Develop Policies

18. 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

19. Assurance and Evaluation Examples
CDC Newborn Screening Quality Assurance Program
Evaluation of Morbidity/Mortality from Sickle Cell Disease Following Newborn Screening

20. Human Genes and Disease 1999: Looking to the 21st Century
Genes Found ,000
Genetic Tests

21. # Genes Reported for Selected Conditions (1999) Source: Online Mendelian Inheritance in Man
Mental Retardation Inborn Errors of Metabolism 611
Congenital Anomalies
Cancer
Anemia
Infection
Diabetes
Thyroid Disorders
Dementia
Arthritis

22. From Gene Discovery to Medical Practice How Do We Get From Here to There?
Health Care
Access to Genetic Tests and Services
Assuring the Quality of Genetic Tests and Services
Gene Discovery
Gene Mapping & Sequencing
Developing Genetic Tests

23. 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

24. 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

25. 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

26. Translating Advances in Human Genetics Into Disease Prevention and Health Promotion Critical Issues
Partnerships and coordination
Ethical, Legal and Social Issues
Training and Education

27. Translating Advances in Human Genetics Into Disease Prevention and Health Promotion Critical Role of Partnerships
Within Federal government
Federal-State-Local
Medicine and Public Health
Public-Private-Academic
Community and Consumer Involvement

28. 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