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CDC Genomics and Disease
Prevention 2002 Highlights "There
are exciting things going on right now in public health.
Certainly, genomics is going to have a profound impact
on the public health practice of the future. Through genomics,
we can understand the genetic basis for health problems,
and how the environment, microbes and lifestyle issues
interact with health outcomes, in a much more robust,
real-time way than we ever imagined would be possible
a decade ago."
CDC
Foundation interview with Dr Julie Gerberding
CDC Director (2002)
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News from the
Human Genome Project continues to captivate scientists
and the public, raising expectations that health
benefits will follow quickly. However, much work
remains to translate research results into new
opportunities for disease prevention, detection,
and treatment. During 2002, CDC's Office of Genomics
and Disease Prevention (OGDP), at the National
Center for Environmental Health (NCEH), initiated
or participated in activities focused on integrating
genomics into public heath research and practice.
The
family history public health
initiative: evaluating the use of family history
as a tool for common disease prevention
OGDP,
in collaboration with several CDC programs and
the National Institutes of Health (NIH) embarked
on a public health initiative to evaluate the
use of family history information to assess risk
for common diseases and influence early detection
and prevention strategies. We have known for years
that people who have close relatives with certain
diseases such as heart disease, diabetes, and
cancers, are more likely to develop those diseases
themselves. However, work in public health and
our personal experiences with the health-care
system clearly show that family history is underutilized
in the practice of preventive medicine.
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In early 2002, OGDP began the family history initiative
with a review of the literature and a paper that
introduced the concept of using family history
for disease prevention, and described an evaluation
framework for determining the effectiveness of
the approach. The paper, "Can
family history be used as a tool for public health
and preventive medicine?" was published in
August 2002 in Genetics in Medicine.In
May 2002, OGDP convened a panel of experts to
discuss the concept of a family history tool for
disease prevention. Several presentations reviewed
existing knowledge about family history as a risk |
factor for selected diseases and its usefulness
for motivating people to change their behavior.
The workshop discussions are summarized on the
CDC genomics website, Family
History as a Tool for Public Health and Preventive
Medicine. In addition, 12 articles based
on workshop presentations were published in the
February 2003 issue of the American Journal
of Preventive Medicine.
A
family history working group was formed to develop
a family history tool for disease prevention.
Members of this multidisciplinary working group
represent epidemiology, genetics, behavioral sciences,
health education, economics, ethics, communication
sciences, and other fields. The group established
inclusion criteria for a family history tool,
reviewed the literature for nearly 40 diseases,
and narrowed the list to 16 diseases for the initial
tool. Ongoing work includes pilot studies to refine
the tool; development of an algorithm to interpret
the data collected in the tool; development of
a resource manual for primary-care physicians
who use the tool; and design and funding of studies
to evaluate the analytic validity, clinical validity,
clinical utility, and ethical, legal, and social
implications of collecting and using family history
information.
Recommendations
for evaluating and synthesizing human genome epidemiology
data
The
completion of the first draft of the human genome
sequence and advances in technologies for genomic
analysis are generating tremendous opportunities
for epidemiologic studies to evaluate the role
of genetic variants in the etiology of human disease.
The number of published studies on human genome
epidemiology (HuGE) has increased rapidly. For
example in 2001, just over 2000 articles of this
type were published, but in 2002, nearly 3000
were published. Therefore, integration of evidence
will become increasingly important
for dealing with potentially unmanageable amounts
of information.
Systematic reviews of prevalence of genetic variants
in different populations, gene-disease associations,
gene-environment interaction, and quantitative
data on genetic tests and |
services
uncovered the need for unified guidelines that
could be used in
integrating evidence. To address the lack of recommendations
that cover the spectrum of HuGE studies, CDC and
NIH convened a meeting
of an expert panel.
The expert panel made a number of recommendations
for evaluation and synthesis of data on (1) prevalence
of gene variants and gene-disease associations
and (2) genetic tests.
Additional information is available on
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Reporting,
Appraising, and Integrating Data On Genotype Prevalence
and Gene-Disease Associations.
Standard
approach being developed to evaluate genetic tests.
Despite the continued
proliferation of genetic tests, only a few have
been evaluated for clinical validity and utility.
In a cooperative
agreement with the Foundation for Blood Research
(FBR), CDC
is establishing a standard approach for evaluating
data on genetic tests. ACCE, named for the four
components of evaluation--analytic validity; clinical
validity; clinical utility; and ethical, legal,
and social implications--is a model process for
evaluating data on emerging genetic tests.
The process includes
collecting, evaluating, interpreting, and reporting
data about DNA and related testing for disorders
with a genetic component, then formatting the
data to allow policy makers to access up-to-date
and reliable information for decision making.
An important part of this process is identification
of gaps in knowledge about the validity of genetic
tests. FBR
has completed a review of genetics tests for cystic
fibrosis and is working on hereditary hemochromatosis,
factor V Leiden, and breast cancer.
Testing for colorectal cancer will be done
in 2003, the final year of the cooperative agreement. The long-term goal of this project is to develop a process
that can be used by other researchers to critically
review genetic tests.
Additional information is
available on Genetic
Test Evaluation: Information Needs of Clinicians,
Policy-Makers and the Public http://www.cdc.gov/genomics/hugenet/GENEtest.htm
Newborn
dried blood spot meeting to develop a strategic
plan to assess the feasibility, utility, and practical
implementation of establishing a national/multistate
bank of leftover newborn dried blood spots
Dried blood spot (DBS)
specimens are a unique, valuable population-based
source for important public health surveillance
and potential epidemiologic research, including
population-based data on the prevalence of genetic
variants associated with chronic disease, markers
of environmental exposure and infectious disease,
and constitute a specimen bank of a large cohort
of state populations. The potential public health
value of leftover newborn DBSs has been increasingly
recognized.
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Newborn
screening (NBS) programs collect DBSs in every
state for the approximately 4 million children
born each year. Leftover DBSs are available after
routine metabolic, endocrine, hematologic, and
other screening tests so retesting can be performed.
Over 95% of newborns have leftover DBS retained
by state programs. The degree to which states
have developed policies and used state-based spot
banks for public health applications varies; examples
include investigations into the etiologies of
birth defects and autism; susceptibility to infectious |
diseases; and environmental
triggers of autoimmune endocrinopathies such as
type I diabetes.
The goal of the September
2002 DBS meeting was to bring states together
to discuss their experiences and develop a strategic
plan in collaboration with state health departments
and other partners; to examine the feasibility
of establishing a multistate bank of leftover
newborn DBS specimens; and to assess the logistical
structure for storage, retrieval, and controlled
access to a multistate spot banks or a central
spot bank.
Issues discussed include storage conditions,
quality assurance, cataloging and retrieval systems,
data elements, databases, security, confidentiality,
and ethical and legal issues. More information
on the meeting can be found at http://www.cdc.gov/genomics/info/conference/Spotbank.htm
Advances in human genetics,
gene discovery, and the Human Genome Project will
play a central role in medicine and public health
in the 21st century.
Assessing the impact of genetic variation
on the health of populations will be critical
to guide public health research, policy, and practice
in using genetic information to prevent disease.
The banks would provide a unique resource for
obtaining population-based data on prevalence
of gene variants of public health significance
and the association of gene variants with disease
and risk factors, including measuring markers
of environmental exposure, infectious disease,
or risk factors associated with developmental
disabilities and chronic disease.
The goal of using newborn
DBSs is to find markers to identify susceptible
populations so that diseases can be prevented,
particularly in children. To inform all states,
an overview of the meeting was presented at the
NBS symposium in Phoenix, Arizona, in November
2002. Further efforts will include pilot studies
to implement and use this valuable resource for
public health research.
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Training
Human
Genome Epidemiology Workshop
at Robinson College, Cambridge, UK.
In
July 2002, the Public Health Genetics Unit, Cambridge,
UK, and OGDP co sponsored a workshop entitled
"Scientific Foundation for Using Genetic
Information to Improve Health and Prevent Disease."
The purpose of the workshop was to introduce the
concepts of HuGE, which translates gene discoveries
to disease prevention by integrating population-based
data on gene-disease relationships with the development
of interventions. Course participants acquired
the conceptual and practical tools for critically
evaluating the growing scientific literature in
this area.
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Lectures
provided students with an overview of HuGE including
the impact of the Human Genome Project on epidemiologic
research; measuring gene-disease associations
and gene-environment interactions; integrating
the evidence from population-based studies into
prevention activities; and translating genetic
advances into improved health outcomes.
Using
case studies, students practiced describing the
population distribution of gene variants; summarizing
gene-disease |
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associations in terms of environment and gene-gene
interactions; and characterizing biochemical and
DNA tests in terms of analytic validity, clinical
validity, and clinical utility.
A two-day workshop:
"The role
of human genetics in infectious diseases and public
health."
The
National Center for Infectious Diseases Science
Education Committee and OGDP presented a symposium
on the effect of the interplay between host genetics
and infectious diseases on public health. This
course was designed as a primer for investigators
who want to perform this type of study but would
not necessarily know the required resources or
ways to initiate the work. The workshop participants
heard a series of talks in three sessions: epidemiology
and study design, technology and laboratory approaches,
and practical aspects of CDC studies.
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State
Capacity Building
Course of Action
for Integrating Genomics
In Disease-Specific Programs
The
Human Genome Project and other recent genetics
advances present unique opportunities for public
health. We now know that certain identifiable
gene mutations increase risk for cancer, cardiovascular
disease, diabetes, and other chronic diseases.
State health departments are challenged with finding
optimal ways of integrating these genetic discoveries
into broad disease prevention and management strategies.
The
Association of State and Territorial Chronic Disease
Program Directors (CDD) continues to be a leader
in this arena. In September 2000, CDD hosted a
retreat for its members to recommend actions for
both state and federal agencies. One recommendation
called for "CDD and CDC, in collaboration with
others, [to] develop and disseminate a white paper
regarding the importance of genetics in public
health and chronic disease." Thus, the CDD's Genetics
Planning Group, in collaboration with CDC's National
Center for Chronic Disease Prevention and Health
Promotion (NCCDPHP) and OGDP, convened the Genomics
and Chronic Disease Summit in Atlanta during January
31-February 1, 2002.
The
Summit's primary purpose was to engage genetics
and public health experts in an exchange of information
about the state of genomic science in relation
to five chronic diseases-asthma, cancer, cardiovascular
disease, diabetes, and obesity-and the implications
for public health during the next 3-5 years. Participants
included invited
representatives of the CDD, NCCDPHP, NCEH, Council
of State and Territorial Epidemiologists, Association
of Public Health Laboratories, Coalition of State
Genetics Coordinators, and the newly established
Centers for Genomics and Public Health.
In
addition to identifying immediate priorities,
the participants developed 20 major recommendations
for furthering the integration of genomics into
public health: http://www.chronicdisease.org/Genomics_Summit_Report.pdf.
Genomics
Toolkit Project
The application of
genetics and genomics has greatly increased understanding
of health and disease, and this knowledge is becoming
increasingly useful for public health practice.
Building capacity in genomics in state public
health agencies is needed so that public health
activities can integrate these new insights into
current policies and programs to improve health
outcomes. The Genomics Toolkit is the product
of a working group coordinated and convened by
the Association of State and Territorial Health
Officials (ASTHO). The working group members include
representatives from CDC and other public health
organizations with interests in laboratory science,
chronic disease, public policy, genetics, maternal
and child health, local public health, and epidemiology.
The goal of the project is to collect or develop
tools that successfully apply genetic and genomic
knowledge to public health activities. |
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The Genomics Toolkit project began in 2001 and made considerable progress
in 2002 to assess tools that states use to increase
genomics capacity, identify areas that might benefit
from genomic knowledge, collect existing materials
useful in practice, begin assessing the gaps in
these tools, and identify and form partnerships
with individuals and public health organizations
that are interested in genomics integration. By
the end of 2002, the workgroup developing the
Genomics Toolkit continued evaluating and |
selecting tools from the materials that had been gathered, preparing
to make them readily available through multiple
formats and to encouraging a commitment from our
partners to use them.
By mid 2003, the first iteration of the Genomics Toolkit will be completed.
The commitment to identifying and developing
new tools in response to the public health agencies
needs and priorities will continue. The Genomics
Toolkit is an evolving document that will be updated
as new resources are identified and as genetic
science evolves.
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Communication
and Information Dissemination
Genomics
and Disease Prevention Information System (GDPInfo)
GDPInfo
is a database of all documents available
on the OGDP website (http://www2a.cdc.gov/genomics/GDPQueryTool/frmQueryBasicPage.asp),
as well as links to relevant documents
on other sites. Users can find information and
resources on the use of genetic information to
improve health and prevent disease. Public health
professionals, including
policy makers, researchers, and practitioners,
are the target audience for GDPInfo, but the public
also may find data and information of interest. |
Users
can obtain a list of relevant documents by querying
the database using defined search terms
because all GDPInfo documents have been indexed
according to gene, disease/outcome, factor and
selected topic categories. GDPInfo includes fact
sheets, reviews, case studies, published literature,
online presentations, book chapters, and proceedings
and related-materials from courses and workshops.
The database also includes documents that have
been created under the |
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auspices of HuGE Net. Of particular note is the HuGE Published Literature
database, which contains abstracts from HuGE articles
in peer-reviewed journals. These articles are
identified through PubMed
on a weekly basis (beginning October 14, 2000).
GDPInfo
is the first step in creating a fully coordinated
information system that will provide data and
resources to public health professionals who are
integrating genomics into research and prevention
services. Future plans for GDPInfo include developing
a genotype prevalence database, complemented by
an interactive atlas to help users find frequency
information.
Addition of Obesity Topic
to Public Health Perspective Series In
January 2002, Obesity and Genetics: A Public Health
Perspective was added to the Public Health Perspective
Series, a web-based communication tool
designed to present complex |
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scientific information
in a clear manner that is meaningful for professionals
in public health and related health professions.
This publication reviewed the problem of obesity
in the population from a genetics perspective, including
information about genetic elements involved in the
biology of energy regulation and metabolism, what
we know and don't know about genetics and obesity,
an interpretation of conclusions from existing data,
and suggestions for fitting this developing knowledge
into current public health strategies.
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Other
topics under development for the Public Health Perspective
series include, "Family History: A Tool for Public
Health and Preventive Medicine " and "Genetic Testing
for Breast Cancer Susceptibility."
Both will be published in 2003. The entire
series of Public Health Perspectives can be found on the OGDP Web site.
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