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The Human Genome Project (HGP), sponsored in the United States by the
Department of
Energy
and the National Institutes of Health,
has created the field of genomics --understanding genetic material on
a large scale. The medical industry is building upon the knowledge, resources,
and technologies emanating from the HGP to further understanding of
genetic
contributions to human health. As a result of this expansion of genomics
into human health applications, the field of genomic medicine was
born. Genetics is playing an increasingly important role in the diagnosis,
monitoring, and treatment of diseases.
Diagnosing and Predicting Disease and Disease Susceptibility
All diseases have a genetic component, whether inherited or resulting
from the body's response to environmental stresses like viruses or toxins.
The successes of the HGP have even enabled researchers
to pinpoint errors in genes--the smallest units of heredity--that cause
or contribute to disease.
The ultimate goal is to use this information to develop new ways to
treat, cure, or even prevent the thousands of diseases that afflict humankind.
But the road from gene identification to effective treatments is long and
fraught with challenges. In the meantime, biotechnology companies are racing
ahead with commercialization by designing diagnostic tests to detect errant
genes in people suspected of having particular diseases or of being at risk for
developing them.
An increasing number of gene tests are becoming available commercially,
although the scientific community continues to debate the best way to
deliver them to the public and medical communities that are often unaware
of their scientific and social implications. While some of these tests
have greatly improved and even saved lives, scientists remain unsure of
how to interpret many of them. Also, patients taking the tests face significant
risks of jeopardizing their employment or insurance status*. And because
genetic information is shared, these risks can extend beyond them to their
family members as well.
*Passing of the 2008 Genetic Information Nondescrimination Act should
protect against such discrimination. May 2008.
Disease Intervention
Explorations
into the function of each human gene--a major challenge extending far
into the 21st century --will shed light on how faulty genes play a
role
in disease
causation. With this knowledge, commercial efforts are shifting away
from diagnostics and toward developing a new generation of therapeutics
based
on genes. Drug design is being revolutionized as researchers create new
classes of medicines based on a reasoned approach to the use of information
on gene sequence and protein structure function rather
than the
traditional
trial-and-error method. Drugs targeted to specific sites in the
body
promise to have fewer side effects than many of today's medicines.
The potential for using genes themselves to treat disease--gene
therapy--is the most exciting application of DNA science. It has captured
the imaginations
of the public and the biomedical community for good reason. This rapidly developing
field holds great potential for treating or even curing genetic and
acquired
diseases, using normal genes to replace or supplement a defective gene or to
bolster immunity to disease (e.g., by adding a gene that suppresses
tumor growth).
See an article
that speculates about how genetic advances sparked by the Human Genome Project
may affect the practice of medicine in the next 20 years.
For More, See the Webpages in this Medical Genetics Suite
Continuing Medical Education in Genetics
Publications, Multimedia, and Newsletters
- Publications
- Your
Genes, Your Choices --a downloadable booklet describing
the Human Genome Project, the science behind it, and the ethical,
legal, and social issues raised by the project
- Books
- Multimedia
- Newsletters
- Human
Genome News --the newsletter of the HGP sponsored by the
U.S. Department of Energy Biological and Environmental Research
Program
- Genetic
Drift Online -- newsletter covering genetic topics
of interest. Published by the Mountain States Genetics Network.
- Brochures
- Other
Professional Societies and Regional Resources
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