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The genome project gave science the blueprint of the
24 human chromosomes, an achievement considered unlikely
by all but the most wildly optimistic supporters when
proposed in the mid-1980s.
A joint venture of the NIH and the U.S. Department
of Energy, the project launched in 1990 was preceded
by years of debate about both its near impossibility
(not even simple bacteria had been decoded at that time)
and problematic ethical and social issues. Even the
project's scientific value was debatable, according
to Science magazine, as some questioned the need for
knowing every human genomic base sequence when so many
are composed of "junk" chains that do not
code for genes.
But the genome project has proved to be a revolution
in research and care, as "it provides a framework
for how you begin to discover the genetic impact and
basis of certain diseases and certain kinds of health
impacts," Calzone said.
"Most people may think of genetics as being associated
with only … single-gene disorders like breast-ovarian
cancer syndromes associated with BRCA1 and BRCA2 mutations,"
Calzone said. Rather, disease is an "accumulation
of genetic changes that are associated with controlling
the function of the cell ... and, increasingly, that
information is being used diagnostically to predict
who may or who may not have a recurrence, or whether
people will or will not respond to certain kinds of
treatments."
According to Melinda Tinkle, Ph.D., RN, the intramural
director for research and training at the research institute,
the completion of the genome project "means we
have a better understanding of the biology of the disease
or the actual mechanisms by which disease happens."
According to the research institute, nine of the 10
leading causes of death in the United States have proved
to have some genetic components or factors. Heart disease,
diabetes and cancer are at the center of several studies
trying to identify genes that-although perhaps not the
cause of the disease itself-may be indicators of susceptibility
to environmental or lifestyle factors, such as: "Why
does being fat for one person not result in heart disease,
but it does for another?" Calzone said.
Several groups and organizations, like the research
institute, believe that nursing research can play a
key role in the study of genes and their functions,
or genomics. Cashion's three-year genetics research
grant is among several backed by the institute, which
strives to give nurse researchers the tools to expand
clinical genetics practice. The institute's Summer Genetics
Institute-or "gene boot camp," as it is commonly
referred-has graduated nearly 50 nurses during the past
five years, according to Tinkle.
The summer program culls genomic experts from nearby
Georgetown and John Hopkins universities to deliver
two months of classroom and laboratory instruction in
molecular genetics to visiting nurse researchers, educators
and advanced practice specialists. Similar fast-paced
summer programs on genetics at Duke University and Cincinnati
Children's Hospital Medical Center teach the genetics
fundamentals for nursing faculty.
Tinkle said the institute's program covers genetic
testing, detection of genetic disease and ethical and
legal issues. "We're trying to jump-start their
research," Tinkle said. "I would say the lab
experience and doing some of the basic molecular techniques
are the real eye-openers for them ... getting a firsthand
experience in a lab where they have a better appreciation
of what a gene test really might look like."
Cashion said the program's hands-on techniques lent
her a new view that established her credentials for
experienced lab personnel back at Tennessee. "I
would have been apprehensive to approach the science
teams at UT," Cashion said. "It's not a nurse
team."
Research like Cashion's may have multidisciplinary
benefits, but is aimed at nursing practice. Rather than
a narrow focus on scientific achievement, Cashion's
primary research goal is to improve patient care. "I
come to my research project as a nurse and as a patient
advocate, and I want to make sure that the patient will
be affected by my program or research," Cashion
said.
The effect on patients is a driving force behind many
nursing genetics studies. A study examining the link
with colorectal cancer to a genetic mutation found in
5 percent to 10 percent of all cases is concerned with
not only tracking inherited risk factors, but in determining
patient psychosocial matters.
Jean Jenkins, Ph.D., RN, FAAN, a clinical nurse specialist
consultant with the NIH's National Cancer Institute,
said her study measures personal feelings about how
the results of genetic testing affect individuals and
families. How do they react to the exposure of a threat
that might not manifest for decades, if ever? Do they
tell their family members, who also might be at risk?
Will they avoid future testing to avoid bad news?
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