d(GC) - Association of Biotechnology and Pharmacy
d(GC) - Association of Biotechnology and Pharmacy
d(GC) - Association of Biotechnology and Pharmacy
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Current Trends in <strong>Biotechnology</strong> <strong>and</strong> <strong>Pharmacy</strong><br />
Vol. 6 (2) 119-144 April 2012, ISSN 0973-8916 (Print), 2230-7303 (Online)<br />
the Human Genome Project in 2000. For the<br />
first time, scientists <strong>and</strong> physicians could read<br />
the entire human genetic code <strong>and</strong> begin to<br />
correlate genotype with phenotype, for disease<br />
conditions <strong>and</strong> other traits. Since 2000, when<br />
one genome was sequenced for approximately<br />
3 billion USD (1), decreasing sequencing costs<br />
have led to the very real prospect <strong>of</strong> sequencing<br />
a human genome for less than 1000 USD (2, 3).<br />
A h<strong>and</strong>ful <strong>of</strong> high pr<strong>of</strong>ile artists, scientists <strong>and</strong><br />
religious figures have already had their own<br />
genomes sequenced to publicize various health<br />
issues <strong>and</strong> initiate discussion on genomic<br />
technology <strong>and</strong> its ethical implications (4). Some<br />
genomicists predict we will have the capacity to<br />
sequence every human genome at birth within<br />
the next 10 years.<br />
Until the time that genome sequencing for<br />
disease prediction is routine in patient<br />
management, however, personalized medicine<br />
must take a broader definition. The first major<br />
textbook on genomics <strong>and</strong> personalized medicine<br />
suggests it is characterized by “the use <strong>of</strong><br />
predictive tools to develop a new model <strong>of</strong> health<br />
care based on health planning that is proactive<br />
<strong>and</strong> preventive”, compared to traditional<br />
medicine, which is “reactive, episodic <strong>and</strong> geared<br />
towards acute crisis intervention once disease<br />
is already manifest <strong>and</strong> largely irreversible” (5).<br />
The National Cancer Institute recognizes<br />
personalized medicine as “a form <strong>of</strong> medicine<br />
that uses information about a person’s genes,<br />
proteins <strong>and</strong> environment to prevent, diagnose<br />
<strong>and</strong> treat disease” (6) <strong>and</strong> the Jackson<br />
Laboratory notes that personalized medicine<br />
“shifts the emphasis in medicine from reaction<br />
to prevention; predicts susceptibility to disease,<br />
improves disease detection <strong>and</strong> preempts<br />
disease progression; customizes diseaseprevention<br />
strategies; prescribes more effective<br />
drugs <strong>and</strong> avoids prescribing drugs with<br />
predictable side effects; reduces the time, cost,<br />
<strong>and</strong> failure rate <strong>of</strong> pharmaceutical clinical trials,<br />
<strong>and</strong> eliminates trial-<strong>and</strong>-error inefficiencies that<br />
inflate health care costs <strong>and</strong> undermine patient<br />
care” (7).<br />
Rebecca E. Smith <strong>and</strong> Juan Miguel Pascale<br />
120<br />
Personalized medicine for cancer :<br />
Personalized medicine for cancer is similarly<br />
based on the foundations <strong>of</strong> prediction <strong>and</strong><br />
prevention. By using information on personal<br />
genetics <strong>and</strong> environment, management <strong>of</strong><br />
cancer risk <strong>and</strong> disease can be proactive <strong>and</strong><br />
individualized. Cancers with underlying<br />
hereditary or infectious cause <strong>and</strong> those arising<br />
sporadically will all benefit from applying<br />
personalized medicine in the form <strong>of</strong> genetic <strong>and</strong><br />
genomic testing, followed by clinical surveillance<br />
or therapy specifically appropriate to the<br />
individual’s genetic information. St<strong>and</strong>ard<br />
community-based screening <strong>and</strong> diagnostic<br />
programs, such as those for bowel, cervical,<br />
breast <strong>and</strong> prostate cancer, can now be<br />
complemented by such gene-based tests, which<br />
are available for pre-symptomatic risk<br />
assessment <strong>of</strong> cancer, as well as diagnosis,<br />
prognosis <strong>and</strong> treatment optimization for a<br />
number <strong>of</strong> solid <strong>and</strong> lymphoproliferative<br />
malignancies (7).<br />
Cancer in the developing world : Of the 12.6<br />
million new cases <strong>of</strong> cancer <strong>and</strong> 7.5 million<br />
cancer deaths, every year, world-wide (8), 56%<br />
<strong>of</strong> cases <strong>and</strong> 64% <strong>of</strong> deaths occur in low- <strong>and</strong><br />
middle-income countries (9). Not only is the<br />
burden <strong>of</strong> cancer mortality <strong>and</strong> morbidity higher<br />
in developing countries (Table 1), but individual<br />
cancer risk, currently higher in the developed<br />
world, is also increasing in the developing world<br />
(10).<br />
In low- <strong>and</strong> middle-income countries,<br />
increased risk <strong>of</strong> cancer <strong>and</strong> cancer death arises<br />
from exposure to carcinogens including alcohol,<br />
cigarette <strong>and</strong> fire smoke, <strong>and</strong> oncogenic<br />
infectious agents, thought to cause 20% <strong>of</strong><br />
cancer in these nations (11); the presence <strong>of</strong><br />
specific racial groups with higher cancer<br />
susceptibility due to genetic background<br />
(discussed below); increasing longevity from<br />
improved nutrition, infectious disease control,<br />
maternal-child health programs, <strong>and</strong> economic<br />
growth <strong>and</strong> political stability; <strong>and</strong> perhaps most<br />
significantly, decreased <strong>and</strong> delayed diagnosis<br />
<strong>and</strong> treatment options (12).