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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).

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