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The Impact of the Human Genome Project on Public Health Practice

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Translating Advances in Human Genetics. Into Disease Prevention and Health Promotion ... American Society of Human Genetics. American College of Medical Genetics ... – PowerPoint PPT presentation

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Title: The Impact of the Human Genome Project on Public Health Practice


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

2
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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 UltimatePublic Health
Problem
  • 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. 1988. 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
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
g
e
Mobilize Partner-ships
Enforce Laws
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
t
s
e
y
m
S
Assurance
Link to / Provide Care
Inform, Educate, Empower
Research
M
t
n
a
e
Policy Development
n
m
a
e
g
Mobilize Partner-ships
Enforce Laws
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
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
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
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
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
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
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 EvaluationExamples
  • CDC Newborn Screening Quality Assurance Program
  • Evaluation of Morbidity/Mortality from Sickle
    Cell Disease Following Newborn Screening

20
Human Genes and Disease 1999Looking to the 21st
Century
  • Human Genes 100,000
  • Genes Found 10,000
  • Genetic Tests 600

21
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

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
GeneticsThe Next Revolution in Public Health
  • Medicine
  • Drugs for treatment and prophylaxis that are
    individually tailored to each persons genetic
    background
  • Public Health
  • Prevention strategies involving behavioral,
    environmental, social and nutritional factors
    that are individually tailored to each persons
    genetic background

24
PharmacogenomicsThe 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 GeneticsInto
Disease Prevention and Health PromotionCritical
Issues
  • Partnerships and coordination
  • Ethical, Legal and Social Issues
  • Training and Education

27
Translating Advances in Human GeneticsInto
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
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