What significance does the discovery of human genes
have for disease prevention and health promotion?
Virtually all human diseases result from the interaction of
genetic variation with environmental factors, such as behaviors and exposures.
Due to the Human Genome Project and other research efforts,
most - if not all - of the estimated 35,000 human genes will be found in
the next decade.
Gene variants have already been identified which play a role
in childhood diseases (e.g., cystic fibrosis, sickle cell disease, asthma), chronic
diseases (e.g., cancer, cardiovascular disease, Alzheimers disease), occupational
diseases (e.g., bladder cancer), and infectious diseases (e.g., HIV/AIDS).
What is the role of public health
in applying advances in human genetics to disease prevention and health
promotion?
Gene Discovery
Assessing the population impact of gene variants on disease, death, and disability.
Examples:
- Measuring the burden of morbidity and mortality from
Birth Defects through
surveillance
and epidemiology
- Evaluating representative samples of the U.S. population to
assess gene frequencies (CDCs National Health
and Nutrition Survey, NHANES)
- Genetic Test Development and Evaluation: Evaluating genetic
testing, including assessing tests and ensuring quality.
Example:
Health Policy Development
Developing standards, regulations, and guidelines through policy panels, technology
assessment, consensus meetings, and workshops.
Examples:
- Workshops on newborn screening for cystic
fibrosis and population screening for iron overload
Integration of Genetic Tests into Disease Prevention and
Health Promotion
Developing and evaluating intervention programs and demonstration projects,
providing professional and public education, and ensuring consumer access to tests and
services.
What is CDC doing to address the public health
opportunities presented by advances in human genetics?
In September 1996, Dr. David Satcher, former Director of the
CDC, appointed an agency-wide Task Force on
Genetics and Disease Prevention to develop a strategic plan for coordinating and
strengthening CDCs activities in genetics and public health.
In October 1997, the Strategic Plan
was approved and CDCs National Office of Public Health Genomics
(NOPHG) was
formed.
In May 1998, CDC and collaborators sponsored the First Annual Conference on Genetics and Public Health
to increase awareness among public health professionals of the scope and process of
integrating genetics into public health programs and to strengthen partnerships for
disease prevention and health promotion efforts.
In December, 1999 the Second
National Conference on Genetics and Public Health was held in
Baltimore, Maryland in collaboration with the Maryland Department of
Health and Johns Hopkins University School of Hygiene and Public
Health.
What is "prevention" in
the context of genetics and public health?
"Prevention" concerns the use of medical,
behavioral, and environmental interventions to reduce the risk for disease and disability
among people susceptible because of their genetic makeup. It does not include efforts to
prevent the birth of infants with specific genotypes.
What are critical issues involved
in the application of genetics to disease prevention and health promotion?
Partnerships and Coordination:
- Among federal organizations
- Between federal, state, and local organizations
- Between medicine and public health
- Among public, private, and academic organizations
- Community and consumer involvement is crucial
Ethical, Legal, and Social Issues
Many ethical, legal, and social issues must be addressed in applying genetics to
the promotion of health and prevention of disease and disability. Some of these include:
- informed consent in public health genetic research and
programs
- legal issues in public health programs (e.g., mandatory vs.
voluntary participation)
- equal access to tests and services
- privacy concerns in population-based surveillance programs
- concerns about group stigmatization
Education and Training
The rapid expansion of the field of Human Genetics requires the ongoing education
of the general public, public health professionals, health practitioners, policy makers,
consumers, and others.
How will genetics change the face
of disease prevention and health promotion in the new millennium?
With strong public health leadership, discoveries in human
genetics will be translated into acceptable disease prevention and health promotion
actions that are tailored to each individuals genetic makeup.
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