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page-title: Beyond the Human Genome Project -- What's Next?
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Beyond the Human Genome Project --
What's Next?

Genomics and Its Impact on Science and Society: The Human
Genome Project and Beyond

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Medicine
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Genome Sequences Launch a New Level
of Scientific Challenges

Building a “Systems Level” View of
Life
The DNA sequences generated in
hundreds of genome projects now provide scientists with the
“parts lists” containing instructions for how an
organism builds, operates, maintains, and reproduces itself while
responding to various environmental conditions. But we still have
very little knowledge of how cells use this information to
“come alive.” The functions of most genes remain
unknown. Nor do we understand how genes and the proteins they
encode interact with each other and with the environment. If we are
to realize the potential of the genome projects, with far-ranging
applications to such diverse fields as medicine, energy, and the
environment, we must obtain this new level of knowledge.

One of the greatest impacts of
having whole-genome sequences and powerful new genomic technologies
may be an entirely new approach to conducting biological research.
In the past, researchers studied one or a few genes or proteins at
a time. Because life doesn’t operate in such isolation, this
inherently provided incomplete—and often
inaccurate—views. Researchers now can approach questions
systematically and on a much grander scale. They can study all the
genes expressed in a particular environment or all the gene
products in a specific tissue, organ, or tumor. Other analyses will
focus on how tens of thousands of genes and proteins work together
in interconnected networks to orchestrate the chemistry of
life—a new field called “systems biology” (see
“Genomes to Life”).

Charting Human
Variation
 Slight variations in our DNA
sequences can have a major impact on whether or not we develop a
disease and on our responses to such environmental factors as
infectious microbes, toxins, and drugs. One of the most common
types of sequence variation is the single nucleotide polymorphism
(SNP). SNPs are sites in the human genome where individuals differ
in their DNA sequence, often by a single base. For example, one
person might have the DNA base A where another might have C, and so
on. Scientists believe the human genome has at least 10 million
SNPs, and they are generating different types of maps of these
sites, which can occur both in genes and noncoding
regions.

Sets of SNPs on the same chromosome
are inherited in blocks (haplotypes). In 2002 a consortium of
researchers from six countries established a 3-year effort to
construct a map of the patterns of SNPs that occur across
populations in Africa, Asia, and the United States. Researchers
hope that dramatically decreasing the number of individual SNPs to
be scanned will provide a shortcut for tracking down the DNA
regions associated with common complex diseases such as cancer,
heart disease, diabetes, and some forms of mental illness. The new
map also may be useful in understanding how genetic variation
contributes to responses to environmental factors.

Primer - History - Insights -
Medicine
- Benefits - Concerns -
Beyond - Systems - Microbes - Dictionary - Home

 The online presentation of this publication is a special
feature of the Human Genome
Project Information Web site (http://www.ornl.gov/TechResources/Human_Genome/).

