ethics

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policy

Personalized Medicine
by Caryn Kunz

I
t is estimated that over 106,000 people die every year
because they are given the wrong dose of medicine.
Adverse Drug Reactions (ADRs) are a significant problem
in today’s health care industry, hospitalizing an estimated
2.2 million people each year. It is the fourth leading cause of
death in the U.S.—ranking significantly higher than AIDS,
pulmonary disease and diabetes.
Before you become wary of taking your next medication,
there is good news. Scientists have made progress
in personalized medicine, the identification of drug
treatments based upon an individual’s genetic profile.
While revolutionary, personalized medicine has profound
ethical implications. Dr. David Magnus, Director of the
Stanford Center for Biomedical Ethics, reveals the ethical
considerations at stake with personalized medicine.

Trial-and-Error Drug Prescriptions

Physicians are never 100% certain that a patient will
react favorably to a prescribed drug. Since each patient has
a unique biological makeup, a given medication may result
in different levels of efficacy and adverse reactions. “Right
now, what we do is give patients medication that generally
works for their conditions, knowing that there may be a
certain response rate,” says Dr. Magnus. “Some of them will
respond, some of them won’t, and some of them will have
Armed with a patient’s genetic
U.S. Department of Energy Human Genome Program, http://www.ornl.gov/hgmis
Personalized medicine utilizes an individual’s genetic profile to identify proper
drug treatments
With pharmacogenomics, or the study of how variations
in the human genome affect the response to medications,
researchers analyze large databases of genetic information to

readout, doctors will soon have
the ability to modify treatment on
a patient-by-patient basis.
really bad side effects. We don’t know in advance which ones
are going to be which.”
Personalized medicine shows promise of replacing the
current system of trial-and-error prescriptions and diagnoses
with a more efficacious and safe alternative.
The Science Behind Personalized Medicine
“When people talk about personalized medicine,
it often means pharmacogenomics, and being able to
tailor therapeutics to individuals based on far greater
information about their genetic profile,” explains Magnus.
develop effective drugs. This data is also used to determine
subsets of disease populations and to predict reactions to
therapies. In order to group patients into populations that
share a specific disease, researchers compare differences
in individual DNA polymorphisms, specific nucleotide
variations between individuals.
The genetic material in these databases is obtained
through the use of DNA microarrays, a technology capable
of measuring the expression of genes for each individual.
When taken over a large population, data from these
microarrays can be compiled to create expression profiles
common to certain diseases. These profiles can potentially
allow physicians to predict the exact drugs that will prove
effective for a given ailment.
“The idea of using information to better tailor things is a
good opportunity to open up what right now is a black box,”
claims Magnus. “The idea that we could open up that black

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policy box to be able to make better predictions about
what’s going to work for whom could dramatically
increase the effectiveness of our therapies.” Armed
with a patient’s genetic readout, doctors will have the ability
to modify treatment on a patient-by-patient basis.
Why has personalized medicine not yet developed
into a readily viable treatment? The first answer is that
technologically, the technique is far from perfected.
Secondly, personalized medicine has the potential to
disruptively change our current health care system and the
“These are really tough, tough
issues that you have to grapple
with before you move forward.”
-Dr. David Magnus, Director of the Stanford
Center for Biomedical Ethics
pharmaceutical industry. Patient privacy, health disparities,
the waning of “blockbuster drugs” and drug approval policies
represent only a small sampling of the countless looming
issues for policymakers and ethicists such as Magnus.
The Promises of Personalized Medicine
Specific drug development
Today, therapies are developed to treat large populations
of common diseases. Many of these people actually belong
to smaller sub-groups, each with a slightly different strain of
the disease for which blanket therapies are not effective.
Knowledge of patient sub-populations has the potential
to alleviate pressures currently experienced by the
pharmaceutical industry. The costs of researching and
developing a new drug are astronomical; less than ten
percent of drugs actually make it to the
market. According to Magnus, greater Personalized medicine may improve a patients’s condition.
knowledge of sub-populations may help
to raise the percentage of marketable
therapies: “When people have a drug, and
it doesn’t work over the population as a
whole, the idea that you would look for
sub-populations where it does work will
allow you to save a drug that otherwise
would be a failure.”
Genetic screening also has the potential to predict an
individual’s risk of contracting a specific disease long
before the sickness manifests. Many predisposed diseases
are actually triggered by environmental factors, such as
eating and exercise habits. Others commence with age. A
foreknowledge of patients’ health risks will allow physicians
to guide lifestyle routines or prescribe preventative drugs
that inhibit the onset of disease.
The Ethical Issues of Personalized Medicine
Patient privacy
One of the most pressing ethical controversies surrounding
personalized medicine is patient privacy. Currently,
pharmacogenomic research is conducted using anonymous
genetic material. “The move towards creating more and
more firewalls between the researcher and the individual
so they can’t do any tracing back has been a way of dealing
with some of the consent and confidentiality issues,” says
Magnus.
Although this method may be effective in protecting the
privacy of an individual’s medical information, questions
regarding the ethics of obligation arise when researchers
discover a correctable condition within the anonymous
genomes in the databases. “If you turn your material over,
and we now can do something that can actively help you,
what do we owe you?” asks Magnus.
Should scientists trace the genome back through the
anonymity firewalls and contact the at-risk individual?
Although the patient may appreciate such communication,
Magnus warns, “we also don’t want this tracing back to
be done too capriciously, and we especially don’t want
it to be done in situations where we don’t know how to
interpret the meaning of that information.” The practice of
pharmacogenomics is still too new to provide a definitive
and complete understanding of the genetic information

Early diagnosis/prevention
Detecting a disease in its initial
stages reduces difficulties and costs for
physicians and patients alike. Instead of
running many expensive clinical tests to
reach a diagnosis, doctors may soon be
able to determine the specifics of an illness
much earlier than is currently possible.
This ability may allow for intervention at
the first manifestation of disease, thereby
greatly improving a patient’s chances for a
successful recovery. © stockvault.net/Björgvin Guðmundsson

58 stanford scientific
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collected from patients. Even as these primary analyses “At this point, it’s policy
remain unclear, a myriad of ethical issues are becoming hard to tell whether
more crucial with each new discovery. [health disparities]
Within the context of personalized medicine, patient would get better or
privacy also begs the question of how much insurers or worse.”
employers should know about an individual’s predisposition C r e a t i n g
to a disease that may prove debilitating or costly to treat. Will economic incentives
that knowledge prevent someone from being hired? Will for pharmaceutical
companies that

“The idea of using information develop therapies

for subpopulations
to better tailor things is a good may help to alleviate
this disparity,
opportunity to open up what right but represents
only a small part
now is a black box.” of the solution.
Ensuring that
insurers require genetic screening before selling policies, underserved access
and who will be required to pay for expensive screening to the full benefits
tests? Will insurers raise premiums or deny insurance to of personalized
individuals who may be genetically predisposed to a disease medicine will be an Dr. David Magnus, Director of the Stanford Center
that may or may not develop in the future? important issue in the for Biomedical Ethics
future.
Health disparities
Recently, the FDA approved a heart-failure drug called The Outlook on Personalized Medicine
BiDil—a therapy created solely for African Americans. Before the road to personalized medicine is full paved,
“There are a lot of critics who say that identifying a drug for much work remains. Magnus points out, “We act like these
African Americans is a dangerous step, because it clumps things are right around the corner, but what we’re actually
together individuals who shouldn’t be lumped together,” getting are surrogates in between.”
says Magnus. “What we really want to do is have biological Eventually, personalized medicine will profoundly connect
markers, which are more accurate, used instead. Otherwise, pharmaceuticals, health care providers, patients, insurance
it may reinforce views that these populations really are companies, researchers and policymakers. As ethical issues
different, and may wind up influencing stereotypes.” surface, it is critical that policies are devised that benefit
BiDil, however, is only a halfway point on the road to true all involved parties. Consensus conferences, such as those
personalized medicine, where individuals will be diagnosed already being held by Magnus and his team at the Stanford
and afforded treatment strictly according to genetic screening, Center for Biomedical Ethics, establish a safe environment
not race or class. “Theoretically, [genetic screening] might for top representatives to debate these guidelines. According
actually help to Magnus, “These are really tough, tough issues that you
alleviate some of have to grapple with before you move forward.” S
those disparities,”
Magnus remarks. Caryn Kunz is a senior majoring in Creative Writing, with a minor in
“What it might HumBio. In addition to science writing, she enjoys reading, eating,
produce, however, the beach, and spending time with friends and family.
are new health
disparities for To Learn More:
groups that are
small, and where Departmental website of Dr. David Magnus:
treatments don’t http://scbe.stanford.edu
exist.”
Populations Personalized Medicine Coalition:
National Institute of Standards and Technology with extremely http://www.personalizedmedicinecoalition.org/
rare diseases may
Microarrays are used to identify Single Nucleotide be left without
Polymorphisms between patients. Pharmacogenomics Online:
treatments http://www.pharmacogenomicsonline.com/
because they are not large enough to offset the costs of a
needed drug’s development. “It may be that we’ll have to National Center for Biotechnology Information:
figure out some way of accommodating groups that essentially http://www.ncbi.nlm.nih.gov/About/primer/pharm.html
become identified as genetic orphans,” explains Magnus.

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