The Impact of the Human Genome Project on Public Health Practice

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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

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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

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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

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Genetic Variation is the UltimatePublic Health
Problem

• We are all at risk for something
• Francis Collins
• M.D., Ph.D.,
• Director, NHGRI

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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

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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

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Institute of Medicine The Future of Public
Health (1988)

• Assessment
• Policy Development
• Assurance and Evaluation

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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

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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
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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

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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
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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
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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
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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
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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

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Assurance and EvaluationExamples

• CDC Newborn Screening Quality Assurance Program

• Evaluation of Morbidity/Mortality from Sickle
  Cell Disease Following Newborn Screening

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Human Genes and Disease 1999Looking to the 21st
Century

• Human Genes 100,000
• Genes Found 10,000
• Genetic Tests 600

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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

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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

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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

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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

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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

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Translating Advances in Human GeneticsInto
Disease Prevention and Health PromotionCritical
Issues

• Partnerships and coordination
• Ethical, Legal and Social Issues
• Training and Education

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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

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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