The Impact of the Human
Genome Project on Public
Health Practice
Elizabeth (Betsy) Gettig,
MS, CGC
University of Pittsburgh
bgettig@helix.hgen.pitt.edu
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 Ultimate
Public 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
Public Health in America
Evaluate Monitor
Health
Assure
Diagnose &
s
Competent
Investigate
Workforce
Link to /
Research Inform,
Provide
Educate,
Care
Empower
g
Mobilize
Enforce
PartnerLaws
Develop
ships
Policies
Public Health
Functions
Project,
Office of
Disease
Prevention &
Health
Promotion,
Office of
Public Health
& Science,
US
Department
of Health &
Human
Services
(1994)
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
Monitor
Evaluate
Health
Assure
Diagnose &
Competent s
Investigate
Workforce
Link to /
Inform,
Provide Research
Educate,
Care
Empower
g
Enforce
Mobilize
Laws DevelopPartnerPolicies ships
• 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
• Monitor Health: Monitor health
status to identify health problems,
including those that have a
Evaluate Monitor
Health
known genetic component, within
Assure
Diagnose & the community.
s
Competent
Investigate
Workforce
• Diagnose & Investigate:
Link to /
Inform,
Research
Provide
Educate, Investigate the distribution of
Care
Empower genetic and environmental risk
g
Mobilize
Enforce
factors within the community to
Laws Develop Partnerdetermine their contribution to
Policies ships
identified health problems and to
improve health outcomes.
Essential Services: Policy
• Inform, Educate, Empower:
Facilitate communication and
education about the integration of
genetics into health promotion and
Monitor
Evaluate
disease prevention programs.
Health
Assure
Diagnose & • Mobilize Partnerships: Foster
s
Competent
Investigate
collaboration among public and
Workforce
Link to /
private agencies and constituent
Research Inform,
Provide
Educate,
groups to promote effective and
Care
Empower
efficient policy making.
g
Enforce
Mobilize
• Develop Policies: Establish
Laws Develop Partnerpolicies and guidelines for when
Policies ships
and how genetic tests should be
applied to promote health and
prevent disease.
Laws: Promote the
Essential Services:• Enforce
enforcement of policies and standards
enacted to ensure the effectiveness,
Assurance
accessibility, and quality of genetic
tests and services.
• Link to / Provide Care: Ensure the
availability and accessibility of
Evaluate Monitor
intervention strategies that incorporate
Assure
Health
genetic tests and services that improve
Competent
Diagnose &
s
health and prevent disease.
Workforce
Investigate
• Assure Competent Workforce:
Link to /
Inform,
Research
Provide
Ensure that present & future health
Educate,
Care
professionals have appropriate training
Empower
g
and skills in the use of genetic tests
Enforce
Mobilize
Laws
and services to promote health and
DevelopPartnerprevent disease.
Policies ships
• 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 Evaluation
Examples
• 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
Inborn Errors of Metabolism
Congenital Anomalies
Cancer
Anemia
Infection
Diabetes
Thyroid Disorders
Dementia
Arthritis
864
611
578
518
319
311
287
240
136
110
From Gene Discovery to Medical Practice
How Do We Get From Here to There?
– Gene Discovery
–Health Care
• Gene Mapping
& Sequencing
• Developing
Genetic Tests
» Access to
Genetic Tests
and Services
» Assuring the
Quality of
Genetic Tests
and Services
Genetics:
“The Next Revolution in Public
Health”
• Medicine
• Public Health
• Drugs for
• Prevention strategies
treatment and
involving behavioral,
prophylaxis that
environmental, social
are individually
and nutritional factors
tailored to each
that are individually
person’s genetic
tailored to each person’s
background
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 Genetics
Into Disease Prevention and Health
Promotion
Critical Issues
• Partnerships and coordination
• Ethical, Legal and Social Issues
• Training and Education
Translating Advances in Human Genetics
Into Disease Prevention and Health
Promotion
Critical Role of Partnerships
• Within Federal
government
• Public-PrivateAcademic
• Federal-StateLocal
• Community and
Consumer
Involvement
• Medicine and
Public Health
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