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The Impact of the Human Genome Project on Public Health Practice

The Impact of the Human Genome Project on Public Health Practice . Elizabeth (Betsy) Gettig, MS, CGC University of Pittsburgh bgettig@helix.hgen.pitt.edu. Racing to map our DNA From Mendel to Monica Good Eggs, Bad Eggs Designer Babies Who Gets the Good Genes? Fixing the Genes.

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The Impact of the Human Genome Project on Public Health Practice

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  1. The Impact of the Human Genome Project on Public Health Practice Elizabeth (Betsy) Gettig, MS, CGC University of Pittsburgh bgettig@helix.hgen.pitt.edu

  2. Racing to map our DNA From Mendel to Monica Good Eggs, Bad Eggs Designer Babies Who Gets the Good Genes? Fixing the Genes GENETICS IN THE POPULAR PRESS: HEADLINES, 1999

  3. 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

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

  5. 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

  6. 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

  7. Institute of MedicineThe Future of Public Health (1988) • Assessment • Policy Development • Assurance and Evaluation

  8. 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

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

  10. 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

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

  12. 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 t s e y m S Link to / Provide Care Inform, Educate, Empower Research M t n a e n m a e g Mobilize Partner-ships Enforce Laws Develop Policies

  13. 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 t s e y m S Link to / Provide Care Inform, Educate, Empower Research M t n a e n m a e g Enforce Laws Mobilize Partner-ships Develop Policies

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

  15. Examples of the Integration of Genetics Into Public Health Functionsin 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

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

  17. Human Genes and Disease 1999:Looking to the 21st Century • Human Genes 100,000 • Genes Found 10,000 • Genetic Tests 600

  18. # 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

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

  20. 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 Genetics:“The Next Revolution in Public Health”

  21. 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 Pharmacogenomics“The Next Revolution In Medicine”

  22. 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 Drugs By Design

  23. Translating Advances in Human GeneticsInto Disease Prevention and Health PromotionCritical Issues • Partnerships and coordination • Ethical, Legal and Social Issues • Training and Education

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

  25. 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

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