ENGR0011
L18
GENETIC SEQUENCING: ETHICS OF A GROWING INDUSTRY
Jacob Reck (Jar181@pitt.edu)
INTRODUCTION: AN EXPANDING
TECHNOLOGY LEADS TO CONFLICT
The science of genetic sequencing has become incredibly
more efficient and informative in an extremely short amount
of time. “The cost of sequencing one person's genome has
shrunk from nearly $3 billion 14 years ago to an anticipated
$1,000 within the next year or two,” which has allowed it to
become much more widely used [1]. The domains that it
covers include but are not limited to determining the correct
way to treat someone showing symptoms of a harmful
disease, and testing fetuses to see if they will be born with
harmful disorders. The various predictions that can be made
by looking at one’s genes have caused ethical dilemmas.
People often question whether or not it is right to be
knowledgeable of such things, and if this knowledge is
beneficial or harmful. A lot of these questions are answered
by the ethical guidelines that are laid out by the engineers
that work on these projects.
If people were more
knowledgeable about these codes, perhaps many of the
objections would subside. In particular though, I believe
that this technology is essential to the growing field of
medicine and biomedical engineering. Eventually, genetic
sequencing can allow scientists to understand, predict, and
potentially cure every innate disease. This paper too is
important in itself. It demonstrates how engineering classes
such as the one that I am in are expanding their curriculum
to include extremely beneficial writing projects. This causes
better engineers to emerge, who can maintain the honorable
code set forth by the ethical guidelines. For me personally,
this debate is very significant because numerous ethical
issues arise through new developments, especially for
bioengineers. Genetic sequencing needs to be allowed to
expand for the same reason that all other sciences do: to
increase our understanding of the world around us. If
science were to stop every time people disagreed with the
possible implications of it, then no progress would ever be
made, and people would be living in a much less favorable
world than they do today.
The benefits of genetic
sequencing for medical use far outweigh the detriments, so
the industry should continue to grow.
DNA directly with much understanding. There are two
general types of tests that can be conducted, both of which
use DNA samples obtained easily from the blood, or any
tissue. The first test utilizes probes which have sequences
that are complementary to mutated strands, so they bind to
them. Once this occurs, the mutations become flagged so
the scientists know that they are there. The second type of
test compares the sequence of DNA bases in the patient’s
gene to that of a normal version, to check for differences [2].
The cost of these tests can range anywhere from hundreds to
thousands of dollars, depending on the number of tests run
on different sized genes [2]. Genetic sequencing processes
are becoming easier, cheaper, and less invasive. The
increasing ease of testing is what has caused the ethical
dilemmas to surface, because the use of genetic sequencing
is becoming more common in multiple areas of medicine.
THE BENEFITS OF GENETIC
SEQUENCING
Identification of Disorders
Even though there are some dissenters, there are still
numerous people who are in favor of unrestricted genetic
access to researchers. One such person is Retta Beery. Her
twins Alexis and Noah suffered from extremely limited
mobility, severe breathing problems, costly emergency
department visits, imaging tests, and visits to specialists [1].
It seemed as though there would never be a solution to their
medical problems. However, genome sequencing identified
mutations in a gene called SPR that encodes the enzyme
sepiapterin reductase [1]. Since the disease was identified,
the twins were able to live joyous, normal lives with proper
drug treatment. "We believe this saved Alexis's life," Ms.
Beery said. "Weighing privacy versus life-saving treatment it didn't balance out at all” [1]. That statement sums up the
essential point of the argument in favor of genetic testing: it
will save lives. It does not matter whether or not some
people will be disturbed by the information that they hear, or
if occasionally it will fall into the wrong hands. With all of
the lives that can be saved, for this technology to go to waste
would be a travesty.
HOW GENETIC SEQUENCING WORKS
Prenatal Testing
The Human Genome Project began in 1990 and
commenced in 2003, costing taxpayers a total of $3 billion
[2]. The researchers identified the 20,000-25,000 genes in
our genome, and determined the sequences of the 3 billion
chemical base pairs [2]. With all of the knowledge gained
from the Project, scientists today can examine molecules of
One of the prime applications of genetic sequencing is
prenatal testing. The U.S. market for it is about $1 billion
per year [3]. The goal of the industry is to create a noninvasive prenatal genetic diagnostic test (NIPD). The reason
being is that most companies who offer tests were
University of Pittsburgh, Swanson School of Engineering
October 8, 2012
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Jacob Reck
preforming chorionic villus sampling (CVS), but they are
invasive and costly procedures, and carry a small but
significant risk of infection, miscarriage or birth defects [3].
NIPD tests were made possible by the 1997 discovery of
cell-free fetal DNA in the maternal blood stream. This is
easy to isolate, for only 10 milliliters of blood is needed
from the mother, and a reliable diagnosis can be given seven
weeks after conception [4]. The NIPD test is used to acquire
information about the child before it is born. For example, it
could examine genes to discover if the child is affected by a
trisomy such as Down’s syndrome, or a sex-linked disorder
such as Turner syndrome, or if the birth will result in a
miscarriage or harm to the mother [5]. These basic, specific
benefits are extremely important, because they increase the
safety of births. Therefore, it is the future uses of the NIPD
tests that frighten people. First of all, informed consent
becomes a difficult issue. Doctors and geneticists will need
to know what information to reveal, how much information
to reveal, how much information to store, and whether or not
the patient is capable of making the correct consent
decisions [5]. Second, the information obtained could get
into the wrong hands. A full scope of the child’s innate
health problems could cause the child to be taken advantage
of by insurance or health companies. This, however, should
not be a worry, because in May 2008, the Genetic
Information Nondiscrimination Act was passed, preventing
insurance companies from discriminating based upon the
results of a genetic test [2]. Perhaps the most heated issue is
the increased rate of selective abortion that will happen.
“More generalized use of non-invasive testing could
facilitate selective terminations of pregnancy in a range of
conditions hitherto not diagnosed prenatally and where the
arguments for and against termination may not have
received sufficient scrutiny” [5]. This means that abortions
could occur without the mother having knowledge of the
situation, and that the scope of conditions that would lead to
an abortion may broaden. For example, a couple may
choose an abortion if the child is simply the wrong sex [5].
The vast amount of knowledge that can be gained from these
tests will need to be regulated so that it is not abused by
businessman, physicians, and patients, but it must be
allowed to persist. Eventually, genetic diseases could be
eliminated if all of them can be tracked by NIPD tests.
However, in the end, the decision still lies with the mother.
She will never be forced to terminate her baby, and will not
be forced to take this test, so all the NIPD tests are doing is
expanding opportunities for those who want them.
not reveal facts, data, or information without the prior
consent of the client or employer except as authorized or
required by law or this Code. [6]” The BMES holds a similar
obligation, saying that one must “Regard responsibility
toward and rights of patients, including those of
confidentiality and privacy, as a primary concern. [7]” These
statements relate to one of the core fears that people have
about genetic screening, that the information gained will be
misused. The public can rest assured though that this will
never occur as long as the project is in the hands of a
responsible engineer. The NSPE also states that “Engineers
shall be objective and truthful in professional reports,
statements, or testimony. They shall include all relevant and
pertinent information in such reports, statements, or
testimony, which should bear the date indicating when it was
current.” [6]. This rule of practice means that the genetic
engineers must completely inform patients about all of the
information that has been obtained, and of all of the
applications that arise. Engineers such as I should not see
these ethical codes as mere guidelines; they should be
viewed as our Hippocratic Oath. It is our duty to the public
to be honorable, respectable engineers and to always live up
to our prestigious title by being responsible and professional.
This is especially made possible by the recent changes in
engineering education.
EDUCATION: BEYOND THE SCIENCES
The way that engineering is taught in schools is changing
significantly from the traditional methods. The Journal of
Engineering Education states that “Engineering Education
must contribute to the development of men who can face
new and difficult engineering situations with imagination
and competence” [8]. The key term in this sentence is
imagination. No longer is the sole focus of engineering
education the physical sciences. Institutions have expanded
their teaching methods because they have realized the
importance of the humanities, and more aesthetic fields. In
particular, the Journal emphasizes “an insistence upon the
development of a high level of performance in the oral,
written, and graphical communication of ideas” [8]. A
perfect example of these teachings is a project like this
research paper. It not only encourages our imagination by
having us look up a research topic that we want to write
about, it enhances some of the necessary skills to be an
engineer. This research paper causes us to have to think and
write professionally. It also makes us start to think like
engineers. We have an issue, and now we want to come to a
conclusion based upon what we have learned. This is one of
the only instances in school when we get to think for
ourselves to come up with our own, unique solutions. These
essays will help us students to meet engineering
qualifications for jobs, and to follow the ethical guidelines
required to be a successful engineer.
ETHICAL RULES AND IMPLICATIONS
Throughout this paper the ethics of genetic screening
have been discussed in terms of reactions of the general
public. However, specific, official codes of ethics related to
this topic exist from the National Society of Professional
Engineers (NSPE), and the Biomedical Engineering Society
(BMES). For example, the NSPE states that “engineers shall
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upon the disorders of the child, but this will only help to
eliminate the probability of a genetic disease. Also, that
decision lies in the hands of the mother, and will never be
forced upon her. This science should be of great concern to
all because everyone has genes, so everyone will be affected.
The NIPD tests can be available to everyone who is having a
child, and anyone could get their own genes screened if they
wish. Once some of the better NIPD tests come on the
market, everyone who is having a child will have to make
the decision whether or not they want one, and how they
should interpret the results. Also, there will most likely be
great debates between people about how far genetic
engineers can go in their testing, interpretations, and
documentation. I personally see this science reshaping the
way medicine works, especially in regards to childbirth.
Genetic sequencing will change the world for the better, into
one that is freer of disease, hardship, and a parent’s sorrow
over a lost child.
SIGNIFICANCE TO ENGINEERS
The emerging field of genetic sequencing in medicine is
something that I, as a bioengineer, need to be knowledgeable
about, because it will revolutionize medicine. An incredible
amount of lives could be saved with the diagnoses that can
be made. Soon all of medicine will adjust itself to include
this science, so engineers must be on board with what is
happening. Imagine a society in which there are no negative
genetic predispositions. There would be no situations in
which someone is cursed from the day they are born to live
an incomplete life. Genetic engineering can eventually
accomplish this seemingly impossible goal. In addition, the
ethical dilemmas which arise from this science are similar to
those which I, and other engineers, will face throughout our
lives. We engineers need to abide by our written codes if we
wish to maintain the integrity of our position. If our own
ethical codes are broken, the trust that the general public has
for us will be lost. Thankfully though, with the direction
education is going, serving these honorable codes will not be
a problem. Also, every time there is a new, radical idea
which could reshape the world, people will resist it, because
they naturally dislike change. This resistance must be
overcome for the goal of increasing scientific knowledge in
order to improve the lives of everyone in the world. If
genetic sequencing can be used to prevent disease, then new
doors will be opened for bioengineers to invent new, even
more radical methods for solving problems to improve
society.
REFERENCES
[1] S. Boschert. (2012). “Panel to address ethics of genome
sequencing.” Internal Medicine News. (Online Article).
http://go.galegroup.com/ps/i.do?action=interpret&id=GALE
%7CA284961522&v=2.1&u=upitt_main&it=r&p=ITOF&s
w=w&authCount=1 p. 14
[2] Human Genome Program. (2010). “Gene Testing.”
Human Genome Project Information. (Online Article).
http://www.ornl.gov/sci/techresources/Human_Genome/med
icine/genetest.shtml
CONCLUSION: A TECHNOLOGY THAT
AFFECTS EVERYONE
[3] BB&T Contributing Editor. (2010). “Interest is growing
in prenatal testing for genetic defects” Biomedical Business
& Technology. (Online Article).
http://go.galegroup.com/ps/i.do?action=interpret&id=GALE
%7CA239105764&v=2.1&u=upitt_main&it=r&p=AONE&
sw=w&authCount=1
In just a few decades, genetic sequencing has grown
from an idea to a science applicable to everyone in the
world. Since the Human Genome Project, scientists can
examine specific people’s exomes for mutations, or can
screen entire sections of their genome.
With this
technology, genetic screening can be used to identify a
genetic disorder by looking at what gene possesses a
mutation. This presents an ethical issue: whether or not
disclosing information about genetics is a violation of
privacy. However, this is a negligible problem to the benefit
of saving people’s lives. Also, as long as engineers follow
the ethical codes that they have written, the general public
has nothing to fear, for they can trust engineers to be
transparent and honest. Hopefully, engineers will act in this
fashion, especially considering the way that the education
systems have changed. With writing skills emphasized
further, engineers will know how to better communicate
with people. Recently, NIPD tests have been perfected.
These can be used to screen fetuses to see whether or not
they have genetic diseases, as well as to obtain a multitude
of other information. This can cause a huge increase in the
number of abortions due to more selective parenting based
[4] L. Haymon. (2011). “Non-invasive Prenatal Genetic
Diagnosis (NIPD).” Council for Responsible Genetics.
(Online Article).
http://www.councilforresponsiblegenetics.org/pageDoc
uments/E3RTQAOVMU.pdf
[5] A. Jong. (2010). “Non-invasive prenatal testing: ethical
issues explored.” European Journal of Human Genetics.
(Online Article).
http://www.nature.com/ejhg/journal/v18/n3/full/ejhg200920
3a.html pp. 272-277
[6] NSPE. (2012). “NSPE Code of Ethics for Engineers.”
National Society of Professional Engineers.
(Online
Article).
http://www.nspe.org/Ethics/CodeofEthics/index.html
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Jacob Reck
[7] BMES. (2012). “Biomedical Engineering Society Code
of Ethics.” Biomedical Engineering Society. (Online
Article). http://www.bmes.org/aws/BMES/pt/sp/ethics
[8] L. Grinter. (1994). “Summary of the Report on
Evaluation of Engineering Education.”
Journal of
Engineering
Education.
(Online
Article).
https://www.asee.org/papers-andpublications/publications/The-Grinter-Report-PDF.pdf
ADDITIONAL SOURCES
(2011). “A Next Generation Sequencing Test.”
American Journal of Medical Genetics. (Online
Article)
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.341
44/full pp. x-xi
(2012). “Incidental Medical Information in Whole-Exome
Sequencing.” Official Journal of the American Academy of
Pediatrics. (Online Article).
http://pediatrics.aappublications.org/content/129/6/e16
05.full pp. 1605-1611
AKNOWLEDGMENTS
I would like to thank the writing staff of the engineering
analysis classes for their guidance in writing this essay, and
my roommate and friends for their understanding and
inspiration.
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