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Emily Galloway
Columnist
The Wannabe Scientist
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Viputheshwar Sitaraman
Founder, Blogger
Draw Science.
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What if the
majority of patients could walk into hospitals before they are sick rather than after they have suffered from
disease symptoms? What if oncologists could be confident that each of their
patients’ conditions will be improved after therapy? What if physicians could
design unique treatments for patients? Soon, all this may be possible thanks to the combination of rapidly-advancing technology and a burgeoning, new medical philosophy:
Personalized
medicine uses genetic profiling to create individualized prevention or
treatment plans for patients. The idea of personalized medicine is not new, but
now scientists finally have the technological capabilities to make it possible.
The cost of sequencing a whole genome has plummeted from $100-300 million in
2001 to about $5,000 in 2011 (1). Once the price has dropped to under $1,000,
scientists believe that whole-genomic sequencing can become a part of standard
medical care. Then, physicians can design personalized treatments for patients
based on reliable information and risk factors evident in their genomes.
BENEFITS
PREVENTION
A principle of personalized
medicine is transitioning the focus from treating disease to preventing
disease. Genetic and protein tests allow patients to know if they are at risk
for a disease and take early action to prevent its development. Certain
mutations of the BCRA1 and BCR2 genes indicate high risks of developing breast
cancer (1). Now that these tests are available, women at risk can take action
by getting frequent mammograms, which can increase the likelihood of catching
cancer at an early stage. By switching the focus of medicine to prevention,
less people will experience the financial, physical, and emotional pains of late-stage
diseases.
TREATMENT
Ineffective drugs are costly – both
financially and physically. Studies have shown that “38 percent of depression
patients, 50 percent of arthritis patients, 40 percent of asthma patients, and
43 percent of diabetic patients will not respond to initial treatment” (1). However,
better understanding drug metabolism and genetic correlations may soon
eradicate the practice of “trial-and-error diagnosis.” Patients will be able to
receive drugs that were specifically chosen because they have been proven to
work effectively in patients with similar genetic profiles. Also, physicians
will be able to assign drug dosages based on each patient’s metabolism and
genetic factors; this emerging field is called pharmacogenetics. Tests for biomarkers,
proteins associated with certain diseases, will additionally allow physicians
to more accurate diagnose and treat illnesses. These tests will make treatments
more personalized and effective by increasing patient adherence to drugs and
minimizing harmful reactions to drugs.
But these ideas are not just
theoretical – physicians have begun to practice these techniques recently.
Among several other mutation-specific drugs, Zelboraf™ more effectively treats
melanoma patients who have the BRAF V600E gene mutation. The drug Ziagen® can
cause fatal effects to a small percentage of HIV patients that have the HLA-B*5701
gene, but all patients that receive the drug are genetically testing
beforehand, which saves countless lives (1).
DRAWBACKS
INSURANCE
People are questioning if and how
insurance will cover genome sequencing and the multitude of new genetic and
biomarker tests. Even if insurance will provide aid to pay for personalized therapies,
millions of people do not have healthcare. How can access to personalized
medicine be provided to everyone, or is this even an attainable goal? (4).
LIABILITY
Physicians are already being
involved in lawsuits claiming that patients should have been testing for a
genetic predisposal to a disease. Soon, lawsuits will appear about physicians’
failure to perform genetic tests before prescribing medications. These issues
introduce a new class of possible legal problems for doctors (3). Rules must be
established to mitigate these disputes and protect physicians and patients.
PRIVACY
Lastly, concerns over privacy,
specifically genetic privacy, have arisen in conjunction with the advancement
of personalized medicine. Protecting individuals’ health information is
extremely important, but where is the line drawn for genetic information?
Creating a database full of anonymous genetic profiles with treatment results
could be a way to quickly spread genetic and drug breakthroughs and inform
doctors about high-risk genes, but does this violate the privacy of
individuals? Also, if a person is diagnosed with a genetic disease and his or
her family members are recommended to get tested for said disease, does this
infringe on the privacy of that person? (3). Several other difficult questions
about privacy must also be addressed to organize personalized medicine.
FUTURE
There are
benefits and risks involved in personalized medicine, but learning about the
aspects of this practice is a step in the right direction. Physicians must have
additional training in genetics before adopting a personalized medicine
approach. More gene-specific drugs must be developed to better prevent and
treat diseases. Lastly, people’s minds must be open to a new philosophy that
could catapult us into a new era of medicine.