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Informed
consent for population-based public health
research involving genetics is necessary
to assure that study subjects understand
the risks and benefits of participation. |
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Informed Consent Document Developed for Participants
in Population-Based Studies: Research
involving genetics must be conducted ethically and
include the informed consent of study participants.
However, little guidance, has been available for
population-based studies of common gene variants
with low to moderate individual disease risks. Recommendations
developed for family-based research are not well
suited for most population-based studies because
they generally do not distinguish clinically relevant
information from epidemiologic data, which are meaningful
only at the population level and involve few physical,
psychological, or social risks for
individual participants. |
In response to this dilemma,
CDC worked with a multidisciplinary group of experts and
developed content and process guidelines for informed
consent for population-based genetic research studies.
The guidelines address several important issues. The consent
document must include information that outlines why the
study is being done, what is involved in the study, how
information collected about research subjects will be
kept confidential, and what the risks and benefits might
be for study participants. The consent document must clearly
state what is to be done with any remaining biological
samples when the study is completed. In addition, some
genetic studies may have the potential to result in a
product with commercial value. When this possibility exists,
it should be disclosed along with a statement about whether
participants would share in any profits.
An
article about these guidelines for informed consent
for population-based genetics research was published in
the November 14, 2001, issue of JAMA. It is hoped that
this new informed consent document and supplemental brochure
will help people make informed decisions about participating
in genetic studies and, in turn, help bridge the gap between
gene discovery and the ability to use genetic information
to improve health and prevent disease.
Readers will find additional
information at Informed
Consent: Public Health Perspective.
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Centers for Genomics and
Public Health Established: In 2001, CDC awarded
funding to three schools of public health, establishing
the first Centers for Genomics and Public Health.
The University of Michigan, the University of North
Carolina, and the University of Washington will
each receive approximately $300,000 per year for
three years. Through a cooperative agreement with
the Association of Schools of Public Health and
CDC, each center will develop a regional hub of
expertise to use information about gene-environment
interactions associated with disease to develop
new strategies for improving health.
The centers will
build on and complement existing programs at the
universities (in public health, medicine, genetics,
and other disciplines) and will establish relations
with local and state health departments. Centers
may also draw on other regional resources, such
as professional organizations, the clinical
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CDC
is collaborating with three schools of
public health to develop the knowledge
base around chronic disease specific areas
and provide genomics training to the public
health workforce and provide technical
assistance in genomics to state and local
public health agencies. |
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community, and industry to develop activities in
three areas: contributing to the knowledge base
on genomics and public health; providing technical
assistance to local, state, and regional public
health organizations; and developing and providing
training for the current and future public health
work force. Although some of these activities now
exist at schools of public health, it is believed
that establishing the centers will generate a high
level of synergy, collaboration, and networking
among schools of public health and other public
health institutions. With this collaborative approach,
CDC hopes to draw attention to gaps in the translation
of gene discoveries into disease prevention and
to demonstrate-through real examples-a way to begin
addressing the gaps. Readers
will find additional information at (CDC)
Awards Funds for Genetics Programs.
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Genomics
Toolkit Project Initiated: Building
capacity in genomics in state public health agencies requires
tools that are useful in achieving the aims of health promotion
and disease prevention. Success also depends upon a sufficient
level of commitment from public health agencies to use these
tools in public health programs. To help make these tools
readily available and to encourage the commitment to use
them, CDC is developing a Genomics Toolkit for state
and local public health agencies. The toolkit will be the
product of a working group coordinated and convened by the
Association of State and Territorial Health Officials (ASTHO)
that includes 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 project
is also being guided by the results of ongoing needs
assessments of state and local public health agencies.
The Genomics Toolkit is intended to be an evolving document
that will be updated as new resources are identified and
as genetic science evolves.
Public Health Impact of Genetic
Tests Assessed at the End of the 20th Century: As
more genetic tests are considered for population screening,
and as associations between genes, environment, and
common diseases are discovered, the number of people who
might benefit from genetic testing will likely increase.
Establishing the extent of how genetic tests are currently
used for clinical and public health purposes will
provide a baseline for future monitoring of the impact
of genetic tests on society.
In response to this need,
CDC classified the 751 genetic tests listed in the
GeneTests database as of November 2000 on the basis of
their use for population-based testing and on the prevalence
of the disease or condition being tested. Of the 423 clinical
tests, 51 had potentially greater impact on public health
because of their use in either statewide newborn screening
programs or other population screening programs or of
their use in testing for common diseases with a prevalence
of more than 1 in 2,000 people. Among the 328 tests performed
for research purposes, only 18 met the criteria for potentially
greater public health impact.
CDC concluded that at the
end of the 20th century, fewer than 10% of genetic tests
were relevant to public health. At the present time,
the majority of genetic test are used in diagnosis or
genetic counseling for rare, single-gene disorders in
a limited number of people. However, in reviewing
the diseases for which genetic tests are being developed
in research settings, CDC foresees that tests for more
common conditions are likely to become more prevalent.
Readers will find additional information at Public
Health Impact of Genetic Tests at the End of the 20th
Century.
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ACCE
provides a model system to evaluate data
on the analytic validity, clinic validity
and clinical utility of emerging genetic
tests. |
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Standard
Approach Being Developed to
Evaluate Genetic Test Data: In spite of
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,
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 putting the data
in a format that allows policy makers to have
access to up-to-date and reliable information
for decision making. An important part of this
process is the identification of gaps in knowledge
about the validity of genetic tests. Conditions
to be examined in the first year of this effort
will include cystic fibrosis, hereditary hemochromatosis,
and factor V Leiden. Cancer- related genetic
tests will be assessed in the second year. The
long-term goal of this project is to develop a
process that can be used by others to critically
review genetic tests. |
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Readers will find additional information at ACCE:
A CDC-Sponsored Project Carried Out by the
Foundation for Blood Research. |
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Human
Genome Epidemiology Network Expanded
The Human Genome Epidemiology
Network (HuGENetT), a global collaboration of individuals
and organizations who develop and share epidemiologic information
about the human genome, has expanded its Web site with the
inclusion of HuGE Case Studies, the E-Journal Club, and
the Published Literature Database.
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of HuGE Case Studies is to train
health professionals in the practical application
of human genome epidemiology and to help readers
acquire conceptual and practical tools for critically
evaluating the growing scientific literature in
specific disease areas. The knowledge gained from
Case Studies will inform readers of diverse backgrounds
on how epidemiologic data can provide a scientific
basis for using genetic information to improve health
and prevent disease. Readers
will find additional information at HuGE
Case Studies.
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HuGE Case Studies provide training and
the scientific evaluation of using genetic
information to improve health and prevent
disease. |
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The
HuGE e-Journal Club summarizes the findings
and discusses the public health implications
of published genetic epidemiologic research
in an interactive forum. |
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The
HuGE e-Journal Club is
an electronic discussion forum where new human genome
epidemiologic findings, published in the scientific
literature and included in CDC's Office of Genomics
and Disease Prevention's Weekly Update, are abstracted,
summarized, presented, and discussed via a newly
created HuGENetT listserv. The E-Journal Club presents
epidemiologic information in a standardized format
and promotes discussion among HuGENetT members and
other interested public health and clinical professionals
on selected articles from the current published
literature. Readers
will find a menu at HuGE
e-Journal Club. |
The HuGE Published Literature
Database provides users access to a database
of indexed epidemiologic literature on gene variant
frequencies, gene-disease associations, gene-gene
and gene-environment interactions, and genetic test
assessments. Database users are able to obtain a
list of relevant articles by querying the database
using selected search terms. In addition, key information
from each article is provided, along with a direct
link to PubMed's abstract of the research article.
Readers may search at HuGE
Literature Database Online Search. |
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Researchers
can query the HuGE Published Literature
Database to find published reports on genetic
research relevant to public health. |
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These additional features
offer a new dimension to the HuGE Net Web site and provide
opportunities for discussion among professionals from
clinical, public health, and other diverse backgrounds
about human genome epidemiology and about education for
decision-making involving the use of genetic tests and
services.
Public
Health Perspective
Series Presents Complex
Information to a Diversified Web Audience: Recent
advances in human genetics emanating from the
Human Genome Project present interesting challenges
and opportunities for both health communicators
and educators. Information about genes, diseases,
and environmental risk factors is complex and
must be communicated in a way that is meaningful
for professionals in public health and related health
professions. CDC has developed a communication
tool designed to present scientific information
in a clear and factual manner to a diversified
audience.
Each Public Health
Perspective is essentially a web site that contains
information and commentary on a single topic.
Complex topics such as hereditary hemochromatosis,
informed consent, pharmacogenomics, and genetic
testing are examined from a public health perspective.
Readers will find both scientific information
as well as popular press news stories, video,
and |
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Public
Health Perspectives provide clear, factual
information to a diversified audience
on specific topics related to the use
of genetics in improving health and preventing
disease. |
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commentary geared to public health professionals.
This "something for everyone" approach allows readers
to examine and understand discoveries of genetic
variants; related disease outcomes; and complex
social, legal, and ethical issues surrounding genetic
discoveries. Perspectives pieces are published by
OGDP in collaboration with other CDC offices and
centers and are featured in the Weekly Update every
four to six weeks. The entire series of
Public Health Perspectives can be found on the
OGDP Web site. |
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