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University of Pittsburgh Swanson School of Engineering. This paper is a student, not a professional, paper. This paper
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for any purpose other than these authors’ partial fulfillment of a writing requirement for first year (freshman)
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USE OF GENETIC SEQUENCING IN CANCER TREATMENT
Daniel Fulmer, daf93@pitt.edu, Mahboobin 4:00, Anthony Pasnello, acp56@pitt.edu, Mahboobin 10:00
Revised Proposal - This paper is about the use of genetic
sequencing to identify and treat forms of cancer. According
to “The Cancer Genome” from Nature International Weekly
Journal of Science by Stratton, Campbell, and Futreal, onein-eight deaths worldwide are attributed to cancer. It includes
more than 100 distinct diseases that have varying risk factors
originating from cell types and organs throughout the human
body and characterized by unregulated cell division that can
expand beyond normal tissue boundaries and metastasize to
distant organs [1]. DNA mutations serve as the source for the
different types of cancer, however scientists have been able to
identify a large number of the specific mutated genomes that
are to blame for this terrible disease.
This new-found discovery of specific cancer genomes
provides us with a detailed and comprehensive perspective on
how and where individual cancers develop [1]. This
technology and method are extremely important to our
constantly evolving healthcare system. Currently the only
effective cancer treatments are very invasive because it is
difficult to fight the disease, and these remedies leave the
patients with lasting, painful side effects. The cause of these
problems stem from cancer’s ability to develop resistance to
repetitive treatment as a result of adaptation and natural
selection, which cannot be easily treated by any of the present
options [2]. Additionally, current treatment methods are
unable to treat every type of cancer, meaning for some
patients, there is no cure. Meanwhile, recent developments
that expanded the range of cancers that can be treated through
sequencing methods have shown the promise that sequencing
has in application to all types of cancer [3]. As an alternative
to these less successful remedies, researchers and doctors
have begun to use diagnostic tests that look at a large panel of
genes via microarrays, which is a relatively targeted approach
that helps to detect mutations throughout the genome [4].
Once identified, these genetic alterations are deemed
targetable if genetic changes cause perturbations in proteins,
pathways, or both, that can be specifically intercepted by
agents [4]. Compared to the well-known and alarming sideeffects of current treatment methods, this developing method
has not shown any negative physical side-effects in studies
thus far, however, further testing would be required to know
this with certainty. One drawback to genomic sequencing can
come from its cost. While advancing techniques and
technology has dropped the price of a sequenced cancer
University of Pittsburgh Swanson School of Engineering 1
2016/1/29
genome towards $1,000, a common person, especially in lessdeveloped countries, can find this as a heavy financial
restraint or burden [1]. Admitting this challenge, sequencing
can provide such an advantage in cancer treatment, due to its
ability to provide a focused attack on a patient’s cancer,
compared to the more general approach of chemotherapy and
radiation.
The benefits of any great technological development
always carry drawbacks, such as the possibility for a
detrimental application. Especially in engineering, an ethical
debate can arise with a new technology, and engineers must
address this debate or make sure that any potential risks are
low. The fear in expanding the ability to work with and alter
human genes is that it could reach a level where designing
whole people reaches fruition [5]. With this, the ethical
question arises over whether humans should have that much
control, and what that ability could lead to in society.
Our paper will begin by reviewing the history of genetic
sequencing. Next, consultation of documented studies and
research will allow us to discuss the scientific principles and
engineering behind this new technology, and we will cover
the advancements that are still in the way of completion.
Finally, we will examine articles that shed light on the ethical
deliberation that surrounds the applications of genetic
sequencing.
REFERENCES
[1] M. R. Stratton, P. J. Campbell, P. A. Futreal. (2009). “The
Cancer Genome.” Nature International Weekly Journal of
Science.
(online
article).
http://www.nature.com/nature/journal/v458/n7239/full/natur
e07943.html
[2] M Murtaza, S. J. Dawson, D. W. Y. Tsui, D. Gale, T.
Forshew, A. M. Piskorz, C. Parkinson, S. F. Chin, Z.
Kingsbury, A. S. C. W. F. Marass, S. Humphray, J. Hadfield,
D. Bentley, T. M. Chin, J. D. Brenton, C. Caldas, N.
Rosenfeld. (2013). “Non-invasive analysis of acquired
resistance to cancer therapy by sequencing of plasma DNA.”
Nature International Weekly Journal of Science. (online
article).
http://www.nature.com/nature/journal/v497/n7447/full/natur
e12065.html
Daniel Fulmer
Anthony Pasnello
[3] E. Kiesler. (2014). “Tumor Sequencing Test Brings
Personalized Treatment Options to More Patients.” Memorial
Sloan Kettering Cancer Center. (online article).
https://www.mskcc.org/blog/new-tumor-sequencing-testwill-bring-personalized-treatment-options-more-patients
risk alleles linked with it. Information from this article will be
used to identify the genetics behind breast cancer.
E. Kiesler. (2014). “Tumor Sequencing Test Brings
Personalized Treatment Options to More Patients.” Memorial
Sloan Kettering Cancer Center. (online article).
https://www.mskcc.org/blog/new-tumor-sequencing-testwill-bring-personalized-treatment-options-more-patients
This article comes from a 130-year-old established and
esteemed cancer research facility that develops new medical
treatments alongside clinical studies. The article describes an
advancement in genetic sequencing of cancer that can work
with more types of cancer, in any area of the body, while
providing doctors with much more, compared to previous
sequencing methods. By describing this progress and
potential, the article helps describe the importance of genetic
sequencing as a cancer treatment method.
[4] F. André, T. Bachelot, F. Commo, M. Campone, M.
Arnedos, V. Dieras, M. Lacroix-Triki, L. Lacroix, P. Cohen,
D. Gentien, J. Adélaide, F. Dalenc, A. Goncalves, C. Levy, J.
M. Ferrero, J. Bonneterre, C. Lefeuvre, M. Jimenez, T.
Filleron, H. Bonnefoi (2014). “Comparative genomic
hybridisation array and DNA sequencing to direct treatment
of metastatic breast cancer: a multicentre, prospective trial
(SAFIR01/UNICANCER).” The Lancet Oncology. (online
article).
http://www.sciencedirect.com/science/article/pii/S14702045
13706119
[5] A. Regalado. (2015). “Engineering the Perfect Baby.”
MIT
Technology
Review.
(online
article).
http://www.technologyreview.com/featuredstory/535661/en
gineering-the-perfect-baby/
P. Krishnan, S. Ghosh, B. Wang, D. Li, A. Narasimhan, R.
Berendt, K. Graham, J. R. Mackey, O. Kovalchuk, S.
Damaraju. (2015). “Next Generation Sequencing Profiling
Identifies miR-574-3p and miR-660-5p as Potential Novel
Prognostic Markers for Breast Cancer.” BMC Genomics.
(online article).
http://web.a.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=
2b10b46e-e8a1-4924-af819d5459e09e50%40sessionmgr4004&vid=6&hid=4209
This article is from an open access, peer-reviewed journal
that specializes in articles on all aspects of genetics. It
proposes using microRNAs as genetic markers to enable
doctors to identify genetic expressions of breast cancer, which
is normally quite difficult to accomplish. This would allow
them to come up with specific therapeutic treatments. This
will be used to explain how breast cancer genes can be
identified and marked.
ANNOTATED BIBLIOGRAPHY
F. André, T. Bachelot, F. Commo, M. Campone, M. Arnedos,
V. Dieras, M. Lacroix-Triki, L. Lacroix, P. Cohen, D.
Gentien, J. Adélaide, F. Dalenc, A. Goncalves, C. Levy, J. M.
Ferrero, J. Bonneterre, C. Lefeuvre, M. Jimenez, T. Filleron,
H. Bonnefoi (2014). “Comparative genomic hybridisation
array and DNA sequencing to direct treatment of metastatic
breast
cancer:
a
multicentre,
prospective
trial
(SAFIR01/UNICANCER).” The Lancet Oncology. (online
article).
http://www.sciencedirect.com/science/article/pii/S14702045
13706119
This article comes from an oncology journal and is about a
study funded by the French National Cancer Institute and
carried out in eighteen research and treatment centers. The
study demonstrated genetic sequencing in breast cancer
treatment by identifying patients with specific, and even rare,
mutations, and giving these patients drugs designed to combat
the mutations. This shows the early stages of cancer
treatment using genetic sequencing.
M Murtaza, S. J. Dawson, D. W. Y. Tsui, D. Gale, T.
Forshew, A. M. Piskorz, C. Parkinson, S. F. Chin, Z.
Kingsbury, A. S. C. W. F. Marass, S. Humphray, J. Hadfield,
D. Bentley, T. M. Chin, J. D. Brenton, C. Caldas, N.
Rosenfeld. (2013). “Non-invasive analysis of acquired
resistance to cancer therapy by sequencing of plasma DNA.”
Nature International Weekly Journal of Science. (online
article).
http://www.nature.com/nature/journal/v497/n7447/full/natur
e12065.html
This article was published by a reputable weekly science
journal and it details a studied carried out in three hospitals
associated with Cambridge University. The article discusses
a study that used genetic sequencing to track the genomic
evolution of cancer cells in individual patients in response to
repeated treatments. This study has relevance because it
shows one way that genetic sequencing can be used to aid and
guide cancer treatments.
T. J. Key, P. K. Verkasalo. (2001). “Epidemiology of Breast
Cancer.” The Lancet Oncology. (online article).
http://www.sciencedirect.com/science/article/pii/S14702045
00002540
This article is from a peer-reviewed journal that is a global
leader in clinical oncology research, focusing on the risk
factors of breast cancer, specifically genetic mutations and
heredity. It gives background into what causes breast cancer
including examples of multiple germline mutations and high
2
Daniel Fulmer
Anthony Pasnello
S. M. Pilgrim, S. J. Pain, M. D. Tischkowitz. (2014).
“Opportunities and challenges of next-generation DNA
sequencing for breast units.” BJS Society Ltd. (online article).
http://web.a.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=
bdcb618b-001f-4486-a72680251d0430b8%40sessionmgr4001&vid=6&hid=4209
This is an online article from a european peer-reviewed
surgical journal that is focused on taking clinical and
laboratory research about minimally invasive therapies such
as genetic sequencing. The article introduces the idea of next
generation DNA sequencing and how it can used in the
clinical practices of breast cancer surgeons and their teams.
This information can be used to provide context and
background to how this new technology can be applied to
breast cancer.
from this source can be used to highlight the pros and cons of
genetic sequencing in health care.
A. Regalado. (2015). “Engineering the Perfect Baby.” MIT
Technology
Review.
(online
article).
http://www.technologyreview.com/featuredstory/535661/en
gineering-the-perfect-baby/
This article is from a collegiate source that explains and
reports new and innovative technologies. The technology
discussed is genetic engineering and its use in modifying the
DNA of humans. It gives arguments for and against this
process. This article will give insight into the ethics of genetic
modification, which is the basis for the sequencing
technology used to treat cancer.
M. R. Stratton, P. J. Campbell, P. A. Futreal. (2009). “The
Cancer Genome.” Nature International Weekly Journal of
Science.
(online
article).
http://www.nature.com/nature/journal/v458/n7239/full/natur
e07943.html
This article comes from an international publishing group
founded in 1869 that compiles a journal of scientific
articles. The information this article provides allows this
paper to include an in depth background of the origin and
development of cancer as well as information on how specific
cancers develop. This supplemental material ensures the
reader has at least a basic understanding of the topic.
C. G. van El, M. C. Cornel, P. Borry, R. J. Hastings, F.
Fellmann, S. V. Hodgson, H. C. Howard, A. CambonThomsen, B. M. Knoppers, H. Meijers-Heijboer, H. Scheffer,
L. Tranbjaerg, W. Dondorp, G. de Wert. (2013). “Wholegenome sequencing in health care.” European Journal of
Human
Genetics.
(online
article).
http://www.nature.com/ejhg/journal/v21/n1s/full/ejhg20134
6a.html#aff1
This article is from an official journal that publishes highquality research about the rapidly expanding field of human
genetics and genomics, most importantly heredity cancer and
genetic therapy/prevention. It explains how genetic
sequencing can be used for healthcare and some of the
advantages and disadvantages of this technology. Information
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