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GENE EXPRESSION TESTING: ETHICAL ANALYSIS
Michael Randazzo (mjr94@pitt.edu)
INTRODUCING A LIFE-SAVING DILEMMA
NECESSARY INNOVATION
For one month out of every year, cities and towns across the
world become enveloped in a pink epidemic of enormous
magnitude. In loving support of those diagnosed with breast
cancer, thousands upon thousands of patients, survivors, and
citizens gather together to spread awareness and “race for
the cure” of the second-leading cause of cancer death for
women [1]. For those diagnosed women, engineers
consistently provide the hope to continue the battle against
cancer with their commitment to the advancement of
medical treatment and procedures. Currently, the application
of gene expression research could potentially revolutionize
breast cancer treatment through the introduction of
personalized medicine [2]. However, contrary to common
belief, the decision to pursue life-saving research is not as
clear-cut as it would seem. Despite the enormous
prospective success of this endeavor, upon further
investigation, numerous ethical drawbacks become apparent.
With our increasing knowledge of the human genome
and diagnostics, the capabilities within reach are far
extended in the field of medicine. Correspondingly, the
National Academy of Engineering has compiled fourteen
‘Grand Challenges for Engineering’ to depict what the future
for engineering solutions entails [3]. The answers hidden
within genetics have the potential to alleviate unnecessary
and ineffective cancer treatment and, in turn, produce
individualized cures. When analyzing the genetic code,
various biomarkers can be identified allowing treatments to
be patient-specific [4].
Despite the obvious advantages, the gene expression
testing introduces ethical dilemmas. Engineers are forced to
make difficult decisions in accordance to a strict code of
ethics with the ultimate goal to uphold the safety, health, and
welfare of the public [5]. Patient confidentiality, the struggle
over the cost-versus-benefit principle, and the concern
around technical accuracy are the three major issues defining
the future of testing [6].
Because of the presence of both significant advantages
and disadvantages, the ethical study of gene expression
testing is a valuable teaching tool within the classroom.
Through the examination of this topic, students gain
experience observing the weighty decisions engineers deal
with everyday and how they apply to the code of ethics. This
education mainly introduces the ideas of professional
responsibility and expands students’ understanding of
complex decision-making [7].
Even with the current technological advances in breast
cancer treatment, there is still an immediate need for reform
due to the 40,230 deaths per year in the United States alone
[8]. The problem stems from lack of knowledge associated
with patient individuality, which forces physicians to resort
to grouping patients into broad ranging categories [9]. As a
result, patients face incorrect diagnosis leading to the onset
of further medical setbacks. Often times, patients are
subjected to unnecessary procedures demonstrated by a
recent statistic quoting, “55-75% of women with early-stage
breast cancer in the United States undergo a toxic therapy
from which they will not benefit but will experience the side
effects”[10]. With the advancement of medical diagnostics,
these miscalculations could otherwise be avoided. With that
said, recent research reveals that breast cancer is not a
singular term, but is comprised of several diseases
depending on certain factors such as genetic composition,
chemistry, and environment [9]. Despite this research, few
studies have been conducted to identify the various genetic
factors and currently only factors like sex, age, and health
are taken into account [11]. With the help of engineers, gene
expression research can bring clarity to today’s hazy
diagnosis.
THE PERSONAL TOUCH
Finally, our knowledge and technology have expanded
enough to make pharmacogenomics not only practical, but
also extremely valuable. Through the study of the human
genome and its variations, we could potentially predict an
individual patient’s response to certain medication. These
genes act as a map to determining inherited differences in
the human body [4]. So far, there are several examples of
cases where the gene variation affects the outcomes of
metabolizing enzymes, drug transporters, and drug targets
[10]. In the future, it would be imperative to locate the single
nucleotide polymorphisms and mutations in order to
discover their relevance to abnormal and cancerous growth.
With this information, physicians will be able to modify
treatments, creating individualized plans for each patient
based on the risks and chance of success associated with
particular medications [4]. This will be wholly beneficial in
reducing the mortality rates from cancer, improving their
quality of life, and, basically, enabling people to live longer
healthier lives.
Over the years, steps have already been taken to
improve the utilization of gene expression testing in breast
cancer. An example of this type of testing is for the HER-2
expression, which remains at the forefront of breast cancer
University of Pittsburgh
Swanson School of Engineering
October 28, 2010
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Michael Randazzo
screening. It allows clinicians to determine which patients
are more likely to respond to tamoxifen inhibitors as
opposed to aromatase [9]. The results of this discovery
found that tamoxifen users who do not have any working
copies of the gene were four times more likely to have a
reoccurrence than those with two working genes [11]. This
statistic highlights the importance of pursuing further
exploration in gene expression. These studies have
astounding potential to reinvent the way we diagnosis
patients. However, the potential does not directly translate to
success because of the complex logistics associated with the
implementation of gene expression testing in practice.
best interest to receive test results that could potentially be
inaccurate. The National Society of Professional Engineer’s
Code of Ethics explains that it is the engineer’s duty to
acknowledge errors and refuse to sign plans that do meet
engineering standards [5]. In this case, the technology needs
to be accessed as to whether or not these inaccuracies abide
by engineering standards and thus avoid deceiving the public
[12]. In addition to the risks of testing imprecision, the gene
expression test usually only reveals an increased risk as
opposed to a diagnosis. This is simply because most diseases
do not rely solely on a single gene mutations, but, however,
rely on the overall gene pattern. More specifically, the
mutations in the BRCA genes represent a higher risk of
breast cancer, however studies demonstrate that the lifetime
risk with the mutation are 40 to 80 percent as opposed to 10
percent to the general population [6]. With these variable
percentages, no sure conclusions are drawn based on the
tests. In relation to this uncertainty, further issues due to
insurance issues arise.
ANALYZING PRACTICALITY
Answering the question of whether or not to introduce lifesaving technology into society seems at surface level to be a
rather simple one. When looking deeper, a much more
complex scenario is revealed. Engineers in the medical field
face significant difficulty dealing with the cost versus
service equation. It is vital that they constantly keep the
public’s best interests in mind, but the extent at which this
applies is unknown. In the case of gene expression testing,
performing various genetic tests on everyone in the
population would undoubtedly detect early disorders in
patients who would otherwise be overlooked. On the other
hand, the overall cost of health care would skyrocket as a
result [12]. According to the Biomedical Engineering
Society’s Code of Ethics, it states “Biomedical engineers
involved in health care activities shall consider the larger
consequences of their work in regard to cost, availability,
and the delivery of health care” [13]. Therefore, the engineer
must balance the product’s performance in comparison to
the expense. The additional costs must then be justified
through successful usage of the technology. Financial issues
range even further when an engineer is pressured by
employers to reduce costs, which could potentially also
reduce the effectiveness of the testing [12]. In order to
follow the code of ethics, it is imperative that the engineer
upholds the qualities of honesty and integrity in order to
advise employers in the right direction [5].
PATIENT RELATIONS
A major concern inherent in a biomedical engineer revolves
around confidentiality and privacy towards patients [13].
However, with the current health care structure, ethical
considerations related to insurance purposes complicate the
implementation of gene expression testing. Questions of
personal rights come to the forefront of the discussion when
insurance companies begin requiring testing in order to
screen for high-risk conditions. Even if the patient desires
confidentially, insurance companies could then easily deny
coverage or increase payments to compensate for the lack of
information. Furthermore, insurance companies could deny
coverage due to the gene expression testing revealing that
the patient might not respond to certain treatments [6]. For
some patients, this could be devastating. Despite the extra
knowledge the gene expression testing might uncover, it also
comes with a host of ethical choices. With knowledge of the
code of ethics, engineers must contemplate if the potential
benefits outweigh the possible drawbacks for society.
A TASTE OF THE FUTURE
IMPORTANCE OF ACCURACY
Although undergraduate engineers succeed astoundingly
with analytic problem solving and quantitative tests, they do
not compare to other majors in terms of altruism and
responsible citizenship. In this age of interconnected
technology, avoiding negative consequences is harder now
than ever, which forces engineers to become well versed in
every aspect [12]. In order to make positive contributions,
the overall importance of an engineer’s work must focus
around promoting the welfare of humans. Therefore, a
lesson on ethics, more commonly known as moral choices, is
essential to prepare for a successful professional career.
Understanding and complying with the ethical codes set in
place emphasizes interpersonal skills, personal integrity, and
sound judgment [7]. All of these acquired skills should be
Despite the fast-paced path of innovation recently in the
medical field, engineers still are limited by the technical
accuracy in gene expression testing. Generally speaking,
society upholds a high expectation for technology, which
then corresponds to a heighten amount of responsibility on
the developers, or better known as engineers [6]. All of the
results must be interpreted cautiously due to the known false
positive rate of error. If relied upon heavily, patients will be
alarmed unnecessarily. On the other hand, false negatives
results mislead patients and, in turn, create an extremely
dangerous situation. Therefore, the ethical dilemma of
dependency on technology originates, which forces the
engineer to decide whether or not it is within the public’s
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Michael Randazzo
introduced early in order to establish a path that leads to a
higher understanding and competency down the road.
Even though freshman year for engineering is already
packed with entry-level courses, utilizing just one excellent
example of ethical decision-making will formulate a new
thought process in the analytical minds of young engineers.
The case of gene expression testing demonstrates an ideal
subject of study because of the numerous ethical
considerations associated with a single issue. Gene
expression testing represents growing innovation, however
significant problems restrict its effectiveness in society.
Through reading and learning about the benefits and
drawbacks of testing, students will begin to address
problems with the mindset of promoting public safety,
health, and welfare. All in all, just a short research paper can
foster an important new outlook on engineering dilemmas.
[7] A. Colby and W. Sullivan. (2008, July). “Ethics Teaching in
Undergraduate Engineering Education.” Journal of Engineering Education.
Vol. 97, No. 3. p.327-338
[8] (2010). “Cancer Facts & Figures.” American Cancer Society. [Online].
Available: http://www.cancer.org/index
[9] T. Miller. (2008, May). “Health Care Technology, Paving the Road to
Personalized Medicine.” Hospitals & Health Networks. [Online]. Available:
Academic Search Premier, EBSCOhost. p. 45-55
[10] L. Veer, R. Bernards. (2008, April 3). “Enabling personalized cancer
medicine through analysis of gene-expression patterns.” Nature. [Online].
Available: Academic Search Premier, EBSCOhost. p. 564-570
[11] R. Rubin. (2010, February 25). “A treatment just for you? Genetic
testing may help.” USA Today. [Online]. Available: Academic Search
Premier, EBSCOhost
[12] G. Geistauts, E. Baker, and T. Eschenbach. (2008). “Engineering
Ethics: A System Dynamics Approach.” Engineering Management Journal.
[Online]. Available: Compendex Search Database
[13] (2004, February). “Biomedical Engineering Society Code of Ethics.”
Biomedical Engineering Society. [Online]. Available:
http://www.bmes.org/aws/BMES/pt/sp/constitution
THE FINAL DECISION
ADDITIONAL RESOURCES
It is hard to imagine that developing a life-saving procedure
could be considered the wrong pursuit, but this decision is
not completely black and white. Gene expression testing has
the potential to create a new era of personalized medicine
within breast cancer treatment relieving thousands of women
of unnecessary and harmful procedures. On the other hand,
implementing this procedure into practice is much more
difficult. Numerous questions about cost, accuracy and
confidentiality are developed as a result of this technology.
Because of the large amount of ethical choices, this topic,
integrated into the freshman-engineering program, would be
a tremendous learning example. By starting ethical teachings
early, students will build upon that basis towards
professional responsibility. In the future those engineers will
determine the final outcome of issues such as gene
expression testing.
M. Chase, R. Winslow. (2008, June 2). “Corporate News: Genetic Research
may help pick Patients’ Best Cancer Drugs; Aid for Physicians May Narrow
Market for Blockbusters.” The Wall Street Journal. [Online]. Available:
Academic Search Premier, EBSCOhost
(2010) “Engineer Better Medicine.” National Academy of Engineering
Grand Challenges for Engineering. [Online]. Available:
http://www.engineeringchallenges.org/cms/8996/9129.aspx
J. Watson. (2006). “Ethics for Engineers falls in an Unstructured Gray
Zone.” IEEE Potentials. [Online]. Available: Compendex Search Database
ACKNOWLEDGMENTS
First off, I would like to thank my mother for reading
through my essay in order to help me. Also, I would like to
thank the writing center for providing a writing tutor to
assist me in the focus of my paper. Finally, Beth Bateman
Newborg provided helpful reminders at the last minute to
put the finishing touches on my paper.
REFERENCES
[1] B. Mantel. (2010, April 2). “Breast Cancer: Is Mammography being
oversold and overused.” CQ Researcher. [Online]. Available:
http://library.cqpress.com/cqresearcher/document.php?id=cqresrre20100402
00.
[2] K. Hobson. (2009, August). “The Era of Personalized Medicine.” U.S.
News & World Report. [Online]. Available: Academic Search Premier,
EBSCOhost
[3] (2010) “Introduction to the Grand Challenges for Engineering.”
National Academy of Engineering Grand Challenges for Engineering.
[Online]. Available:
http://www.engineeringchallenges.org/cms/8996/9221.aspx
[4] J. Pascoe, D. Palmer, D. Spooner, D. Rea, and S. Hussain. (2008).
“Genomics and Pharmacogenomics in the Management of Breast Cancer.”
Current Pharmacogenomics and Personalized Medicine. [Online].
Available: Academic Search Premier, EBSCOhost
[5] (2007) “Code of Ethics for Engineers.” National Society of Professional
Engineers. [Online]. Available:
http://www.nspe.org/Ethics/CodeofEthics/index.html
[6] J. Goodkind and J. Edwards. (2004, October 22). “Gene Expression
Measurement Technologies: Innovations and Ethical Considerations.”
Computers and Chemical Engineering. [Online]. Available: Compendex
Search Database, p.589-596
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