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Annotated Bibliography Workshop Reflection

Overall, I feel that this workshop went a lot better than the previous one and I was able to
receive more explanations and suggestions working in groups as opposed to someone picking up
my paper from a random pile of papers. My citations were checked over, making me feel more
confident in my ability to cite correctly. I got several suggestions on how I could shorten things
(important to this particular assignment) and how I could rephrase some things to make them
sound a little stronger and more professional. I got advice on how to integrate more details so
that when I read back over the bibliography about my research, I will be able to remember which
source said this or that, etc. I received advice on how to restructure my paragraphs to make them
flow more nicely. I am relieved that we had a workshop for this assignment because it appears to
be the most challenging assignment for me so far, because I have never had to do anything like
it. I appreciate being assigned something that I will likely need to know how to do in the future,
especially as a biology major. Anyone can read over a paper and find grammatical errors, but I
think workshops are best for structure and ideas. They are good for brainstorming on where to
look next when you get stuck. In general, I feel like workshops are an opportunity to learn from
other students and to also find inspiration for your own writing. Before the workshop, I was
confused as to how I should format my annotated bibliography, but learned that day where to
indent and where not to indent, which made my work look the way it was supposed to. It also
brought my attention to the little details when looking over my own paper, such as including my
last name and page number at the top of every page.

Yates 2

Ehrin Yates
Knudson
UWRT 1003-004
November 6, 2016
Genetic Medicine and the Health Care Field: Praiseworthy or Destructive?
Au, Billie, and Jing You. "Gene Matcher Aids in the Identification of a New
Malformation Syndrome with Intellectual Disability, Unique Facial
Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De
Novo Variants in HNRNPK." Human Mutation, 6 Aug. 2015, pp. 1009-14.
Wiley Online Library, doi:10.1002/humu.22837. Accessed 2 Nov. 2016.
Au and You demonstrate the effectiveness of the Gene Matcher web based tool through a report
on their study on whether or not a particular gene defect is cause for a rare disorder. Au is
affiliated with the department of medical genetics at the University of Calgary in Canada. You is
affiliated with the pre-doctoral training program in human genetics at Johns Hopkins University
School of Medicine in Baltimore, Maryland. They start the report out by describing Gene
Matcher, then giving an overview of the data and process of their study, including a description
of the test subjects. This leads into the discovery of HNRNPK as the causative gene for a
particularly rare syndrome. There were at least two candidates who were studied in different
clinics and locations to support data and credibility of the study. Ample descriptions of two
candidates were given, family history was collected, and other discoveries made possible through
Gene Matcher were stated. Other web based tools were described and discredited with their

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drawbacks stated. Overall, Au and You argue for the use of Gene Matcher and support its
credibility through the use of their particular study.
This report from 2015 on a study to find a gene causation for a rare syndrome with the
use of a web based tool called Gene Matcher by Au and You provides useful information on the
use of genetic information as opposed to the sole use of phenotypes. Some previous knowledge
is required to comprehend the report, and confusing language is used due to the medical nature
of the topic. The authors both have credentials from highly appraised universities and medical
centers and are experts in the field of genetic medicine, with this report published in the highly
acclaimed journal of the Human Genome Variation Society. The organization of the report was
very helpful because it included key words, figures, features of the study, and many references,
which make it easy to decipher the reports argument. While the article does not give much
information overall about the topic of genetic medicine, it clearly provides examples of its
advancement pertaining to my topic.
Bowdin, S. C., et al. The SickKids Genome Clinic: Developing and Evaluating a Pediatric
Model for Individualized Genomic Medicine. Clinical genetics, vol. 89, no. 1, 2016. pp.
10-19doi:http://dx.doi.org/10.1111/cge.12579.
Bowdin is affiliated with the department of pediatrics in the division of clinical and metabolic
genetics, and reviews a pediatric genome clinic in this article, implemented to decide how to best
implement individualized genomic medicine. The article is published in Clinical Genetics, an
international journal of genetics. Bowdin supports the advancement of genetic medicine, and
argues for the resulting individualized medicine to be implemented into pediatrics, following her
devised and tested model. She begins by discussing the rapid advancements in genetic medicine,
then addresses challenges relating to the implementation of genetic medicine. For example, she

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discusses and refutes possible psychological, employment, and insurance issues. She then
discusses the patient role and perspective, the pediatric clinic model, and which direction to take
in the future. The article provides a helpful diagram and sample data for common adult diseases
which could be prevented and/or treated through the use individualized medicine at the pediatric
level. Bowdin argues for the use of genetic medicine, and thus individualized medicine by
providing a model and data from a trial clinic.
This review article of the SickKids Genome Clinic is of high benefit to my topic and does
so while using language that is easy to understand while communicating difficult subjects. The
author and journal are highly accredited, meaning that the content of the article is highly likely to
be correct. The article contains headings and subheadings which break the information up in a
manner where specific subtopics are easily accessible. The diagram included makes it easier to
visualize the model clinic and how it operates with the use of individualized medicine, which is
of high value to the topic of genetic medicine. The article provides background information,
simplifying the topic itself, simultaneously illustrating both sides of the argument of the use of
genetic medicine and demonstrating why genetic medicine should clearly be in effect.
Bowdin, Sarah, et al. "The Genome Clinic: A Multidisciplinary Approach to Assessing the
Opportunities and Challenges of Integrating Genomic Analysis into Clinical
Care." Human Mutation, vol. 35, no. 5, 2014. pp. 513519doi:http://dx.doi.org/10.1002/humu.22536.
Bowdin, the same author of The SickKids Genome Clinic, takes a similar approach in certain
areas of this article. However, instead of focusing on the model of a clinic for implementing
genetic medicine, she addresses more challenges and specifically focuses on how results and
diagnoses can be most accurate, as well as the roles of different employees such as geneticists,

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physicians, genetic counselors, etc. She starts the article with an introduction explaining the need
for this discussion, then goes on to address challenges, covers accuracy and efficiency of genetic
medicine, and discusses the role of health care providers in the field of genetics. She then
assesses the interpretation of results and possible ethical issues. One of the strong points in the
article is the way Bowdin states issues and discusses resolutions. The discussion of different
health care roles and potential ethical issues, while maintaining the use of language that doesnt
take a lot of energy to decipher. She concludes that genetic medicine can be developed for use
without many issues or concerns, because these can and should be addressed, and that the
benefits of using this type of medicine significantly outweigh the negatives.
I found this article to be very interesting and informative, with many views addressed and
discussed, whether negative or positive. The content is very useful to the topic of genetic
medicine because it contains information about this field as well as how it can be upheld to high
accuracy standards, who is involved in the process and what they do, ethical issues, etc. The
author is involved with several departments and clinics of genetics and has this article published
in the highly acclaimed journal of the Human Genome Variation Society. The article presents the
qualifications of the author at the beginning, which automatically makes the argument more
convincing before it is presented because of the professionalism of the author. The headings,
which separate the different topics covered, help the reader to more easily find information. The
model provided breaks down the process of what a patient goes through during genetic medicine
screening and processes, as well as the professionals they encounter and what their role is. The
article is recent, published in 2014, and a high variety of references are included, strengthening
the credibility of the article.

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Dreyfuss, Jonathan M., et al. "How Accurate Can Genetic Predictions Be?" BMC
Genetics, 24 July 2012. PubMed, doi: 10.1186/1471-2164-13-340. Accessed
1 Nov. 2016.
Dreyfuss, involved with a personalized genetic medicine center in Boston as well as the graduate
program of bioinformatics at Boston University, argues that genetic medicine is not completely
reliable due to environmental factors affecting genes. He provides statistics and analysis of
genetic and non-genetic factors for type two diabetes and breast cancer, as well as a discussion of
these statistics. This research article begins with background information on the tests involved in
genetic medicine, then moves into a research results section, a discussion of these results, a
conclusion, and finally a methods section to explain processes used during the research period of
this study. The graphs, charts, and equations provided throughout this research article are
necessary to provide the best understanding possible for readers, as they summarize major points
in figure form. A large amount of statistical information is covered in fewer than eight pages.
Dreyfuss concludes that exact limits on genetic predictions through tests can help prioritize
resource usage, and knowledge of these limits can help experts to maximize benefits of genetic
medicine, while implementing a cost-benefit analysis based on each patient.
This research article provided direct evidence supporting the claims of the author and
offered unique viewpoints which are necessary for the topic of genetic medicine. However, some
prior knowledge of interpreting statistics and the language associated may be required. As a
research article, information and viewpoints on advances and uses of genetic medicine are
provided, as well as specific examples, both of which are of use to the topic of genetic medicine.
The author of the research article provides his credentials, which are easy to locate, and even
provides additional information which can be found at the end of the article, and is published in

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BMC Genomics, which is a journal in BioMed Central which publishes up to date and accurate
information. The information presented is done so in a logical manner, first presenting
background information, then results, discussion, and conclusion, all with accurate figures for
visualization of the argument. Published in 2012, this article is relevant, although genetic
medicine is moving at a faster pace than most areas of study.
Eccles, B. K., et al. "Understanding of BRCA VUS Genetic Results by Breast Cancer
Specialists." BMC Cancer, vol. 15, 2015.https://librarylink.uncc.edu/login?
url=http://search.proquest.com/docview/1779680063?accountid=14605.
Eccles is a faculty member in the cancer sciences academic unit and clinical trials unit at the
University of Southampton. In this research article, published in BMC Cancer, Eccles argues that
non-genetics trained cancer specialists need to have either further training in order to confidently
read ambiguous genetic tests, or work more closely with geneticists. Eccles also believes that
genetic laboratories need to standardize their reports and stick to one classification system so that
there is no confusion when interpreting results. The article starts with a background about breast
and ovarian cancer genes, the growing demand for testing, then goes into how information is
collected and test results are read. Next, a study conducted by Eccles team over the reading of
genetic tests by breast cancer specialists and geneticists is overviewed, with an emphasis on its
process and results. 71% of breast cancer specialists say they cannot confidently read an
ambiguous genetic test and most (95.3%) refer patients to a geneticist for this and other related
services (4). Eccles concludes that oncologists need further genetics training or advisement from
geneticists in order to accurately keep up with the rising demand from patients and medical
professionals for genetic tests and provide these patients with accurate treatment.

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This research article, while specific to breast cancer genes and how genetic test results
are reported, also provides a great amount of useful information about the increasing demand for
genetic testing and medicine. The reader can also gain insight on the process of obtaining genetic
results and how these results are used to assist patients. Eccles is very knowledgeable about
genetic testing, specifically regarding cancer and provides sufficient data from the study, which
is included in this research article. Eccles also cites information from other research articles and
relates it to the findings from this study. The article includes helpful headings to organize
information and helps prepare the reader for the section that follows. Statistics are included to
strengthen the argument of the article and present facts visually using various tables.
Jacobs, Chris, and Gabriella Pichert. Genetic Testing for Rare Cancer: The Wider
Issues. Springer-Verlag, 2016. Web of Science, doi: 10.1007/
978-3-319-29998-3_12. Accessed 6 Nov. 2016.
Jacobs is associated with the Department of Clinical Genetics and the NHS Foundation in
London, and Pichert is located at the London Bridge Hospital; Jacobs being the main author of
this book. While this chapter of the book does not heavily argue for anything other than the need
for individualized genetic medicine, it is very informative and presents a high volume of
information on the current practice of genetic counseling and testing in the field of heredity
cancer. This chapter, taken from the larger book, begins with an introduction, then goes into
identifying at-risk patients, and further into genetic counseling and current genetic testing
practices. It then discusses the possible outcomes of genetic tests and the different types of
diagnostic tests which are available. The chapter also discusses direct consumer testing, which I
have not come across in any other articles in my research thus far. The chapter closes with
challenges in genetic medicine and its future. The author concludes that patients and their

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physicians must be informed about the rapid advancement of genetic medicine and how they
could benefit from engaging with it.
Overall, I found this chapter from the book to be of tremendous use in dissipating
confusion with regards to the area of genetic medicine and what all it entails. I found the main
author to be credible due to the credentials and contact information provided. However, it was
more difficult to verify this author because he and the publishing company are not from the
United States. The chapter is organized with a list of key words and a table of contents. It is set
up with an introduction and headings corresponding to the table of contents. Since this chapter is
mainly useful for background information on the topic of genetic medicine, it is helpful that the
book was published in 2016 and all of the information is up to date.
Katsanis, Sara Huston, and Nicholas Katsanis. Molecular Genetic Testing and the Future of
Clinical Genomics. Nature reviews. Genetics 14.6 (2013): 415426. PMC. Web. 7 Nov.
2016.
The Katsanis authors are both affiliated with Duke University in Durham, North Carolina. Sara
Katsanis works at the Duke Institute for Genome Sciences and Policy, while Nicholas Katsanis
works in the Duke University Medical Center for Human Disease Modeling. This author
manuscript argues that the field of genetic medicine is rapidly advancing using technology, while
simultaneously becoming more affordable. It also outlines the ethical considerations and other
regulatory policies for this type of medicine. The Katsaniss discuss the sophistication of genetic
medicine and how it is becoming more individualized, present information about testing and
actual gene structure, and discuss ethical considerations and regulatory as well as privacy
policies. The authors conclude that the increase in technologies is driving the cost for genetic
medicine down and acknowledge the many advances present today. However, they argue that

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more studies of genomic data are necessary to gain a deeper understanding of genes causing
disease or defect and to reduce limitations in order to benefit patients on a more personal level.
This manuscript is one of the more challenging pieces of research I have encountered
because of the highly academic language used related to the science of genetics. However, it is of
use to the topic of genetic medicine and provides information on ethical and regulatory policies
which are relevant to my inquiry project. These authors are very credible, being from institutes at
Duke University, in specific genetic and human disease departments. The manuscript is
organized first with scientific information on sequencing and chromosomal structures, then
moves into the scope of genetic testing. It also includes various related case studies which are
organized into boxes with a different background color than the rest of the manuscript. Policies
are also boxed in this manner to help offset them from the rest of the text, which is helpful.
Rinke, Michael L., et al. "Genetic Services and Attitudes in Primary Care
Pediatrics." American Journal of Medical Genetics, vol. 164, no. 2, Feb.
2014, pp. 449-55. Web of Science, doi:10.1002/ajmg.a.36339. Accessed 6 Nov.
2016.
Rinke, Mikat-Stevens, Saul, Driscoll, Healy, and Tarini are all affiliated with various pediatric
health care centers and hospitals in states such as New York, Illinois, South Carolina, Colorado,
and Michigan. The group of authors collaborated on the study presented in the research article,
ensuring a broad scope of knowledge and high accuracy. The article argues that early
identification of genetic disease leads to a more positive outcome, and pediatricians are not using
genetic medicine to an effective degree to get patients the healthcare they deserve. The team of
authors conducted a survey on pediatricians and related professionals regarding provision of
genetic services, attitudes towards these services, and practices of taking family history. The

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survey was conducted throughout a wide range of demographics, with 88 total participants, to
most accurately obtain results (Rinke 450). The article begins with an introduction covering
pediatrics and its relation with genetic medicine. It then goes into methods of the survey, then
statistics and results, and further into specific subcategories of the study, such as provision of
genetic services, attitudes, and family history practices. After this, a discussion is included with
goes into detail about what the given results mean and what conclusions can be drawn about
these results. The authors concluded that health care professionals need to continue their medical
education in order to be able to explore different avenues available in the field of genetic
medicine for their patients and genetic professionals also need to be more accessible.
This research article is very useful to the topic of genetic medicine because it argues for
the use of genetic medicine and explains why it has not been as widely used as it should be,
while providing simple resolutions to increase its use. The study gives ample evidence for the
necessity of genetic medicine to be integrated into the personalized treatment plan of patients and
is published in the highly acclaimed American Journal of Medical Genetics. The authors are
credible, as they are part of various pediatrics systems as well as research departments across the
states. The article is presented as a normal research article would be, sectioned into introduction,
methods, statistical analyses, results, and discussion headings. There are a sufficient number of
data tables and statistics included to support the arguments within the article. For example, a
table of the exact survey questions and response percentages are included on page 452.