Genetic Testing and Ethics

Mckayla Kerrick

June 2nd, 2017

Introduction

Genes, a ticking time bomb inside our bodies. They hold the reason why a persons hair

is red, why people are so tall, or why someone has sickle cell anemia. A person can go years

without even realizing an illness or even the reason for their death is sitting inside their genes. I

didnt. I was fourteen when my doctors told me that my genes carried a genetic disease that

prevented me from being able to eat food similar to other people. I at first didnt really

understand why the doctors were telling me there was no way to change the way I was. I didnt

understand why I was different than everyone else. So when I was approached with the idea of

this paper, I took it as an opportunity to understand more about what had happened to me and

millions of others across the globe. I connected it to a personal interest in human interactions and

not only decided to study how genetic and genetic testing worked but the ethics that surrounded

the somewhat controversial topic.

What I Knew

Having taken a biology course the same time of my research, I was able to know most of

the basic ideas of genetics. I knew that different combinations to nucleotides within the DNA

that caused each person to express different characteristics both internally and externally. I also

knew that these genes were passed down amongst family through meiosis and sexual

reproduction. I knew that there were ways to test and see what a persons genes said but I didnt

know how it worked, what it was like, or how you would even understand what these tests were

telling you.

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My Search

Why starting my search, I dove right into the ethics and moral arguments over genetic

testings and what it entails. I started off on Google Scholar searching though abstracts and

papers. I soon learned that I needed to take a step back due to me not knowing much about basics

of genetic testing in the first place. So, I did a basic Google search of genetic testing and found

thousands of results, where I could get it done, and what people thought about it. I then narrowed

my search to address each of the subtopics that I wanted to know such as the price of genetic

testing, how it worked, and what different types there was. I found the U.S. National Library of

Medicines Genetics Home Reference which offered the baseline information for most of my

questions. It provided me with the much of the information I needed to dive further into my

research with a better understanding of what was being talked about. I also used this site to build

up my vocabulary on the topic.

Now knowing much of the basics of genetic testing, I was able to go into more complex

information on the topic. I slowly worked my way from articles on Google that I found of the

different types of genetic testing and how it worked to more advanced scholarly articles.

Learning about the different types of genetic testings allowed me to gather a small amount of

information about why people do genetic testing and what are common disease people get

genetic tests for. I further my research on this question, I searched to see what came up and was

shocked to find that most people do not get genetic testing for specific diseases, but for

unexplained symptoms they may have and that at times genetic tests can yield no information for

the patient.

When I had learned about the process of genetic testing, I wanted to learn more about

what was done by a professional during this process and what they did to help a patient along

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what can be an emotionally tiresome ride. I did a search of offices and physicians that provided

these services in my area. I, with some assistance, found Dr. Tifany Lewis, a genetic counselor at

Virginia Oncology Associates. I contacted her, but was sadly unable to meet with her to discuss

her job. However, I didnt let this hinder my search and was able to find information about what

someone does as a genetic counselor.

After finding all I could about genetic testing and its process, I began researching its

ethics and why there was such a debate over it. I originally saw genetic testing as an amazing

thing that could allow people to discover and hopefully lessen or prevent the effects of a disease.

It would allow parents to see how their genes could affect their children. However, as I began

searching on Google and then Google Scholar, I began to see where many people saw a problem

with what genetic testing did and what it could allow in the aspects of medical and life insurance.

I also discovered that it can become quite costly depending on what happens within your family.

My Results

Anybody can elect to get a genetic test, but most considered it depending on multiple

symptoms their experiencing that can be unexplained according to the National Center for

Biotechnology Information. There are multiple red flags that can appear that cause a patient or a

physician to believe that genetic testing is the right way for someone to go. The first thing that

can cause someone to move towards a genetic test is a history of a certain disease such as cancer,

heart disease, or dementia within the family. The likelihood of having a disease increases when

multiple people within direct family members such as parents, siblings, or children, have a

disease. This also includes issues like multiple stillbirths, miscarriages, or childhood deaths.

Developmental delay, mental retardation, and congenital abnormalities within a family can also

key into a possible genetic test. Even without a family history, people can opt for a genetic test

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when they have multiple symptoms or issues that have not or cannot be explained any other way.

(Alliance, G.) The tricky thing about these genetic disease though is that they can lay dormant

for years without the person knowing they have it or carry the gene.

The methods genetic testing are very flexible as to what a certain person wants or needs

to know about their genes. There are many different inspirations for people to get genetic tests

such as to see if they can pass a gene onto their children or if they possess a gene themselves.

There are four different types of tests: newborn screening, carrier testing, prenatal diagnostic

testing, and predictive or predispositional testing. A test can be ordered by a medical geneticist,

primary care physician (PCP), a specialist, or a nurse practitioner. Positive result of genetic tests

do not only affect the person getting the test done. Positive results can require other family

members to require testing also.

Newborn screening is done to almost all children born in the U.S. and tests for a variety

of genetic diseases. The heel of the babys if pricked to acquire a blood sample for testing, and

these reports are only given if there are positive results. These tests allow intervention if the child

has a genetic disease to either lessen the effect of the disease or prevent the onset of symptoms

occurring. Most often further testing is done with positive results. Carrier testing is a genetic test

in which people are capable of seeing if they are a carrier of a certain gene. These are most

commonly done in order to see if two possible parents are able or will produce a child with a

genetic disease like sickle cell anemia, cystic fibrosis, or Tay-Sachs disease. These tests are

normally prompted by a family history of a certain disease. Prenatal diagnostic tests are genetic

tests that check to see if there is any variation in the fetus genes that could lead to possible

issues in the future. These tests are also done by people with a family history or couples with a

high chance of creating an offspring with an issue. Finally, there is predictive or predispositional

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testing. These tests allow people to see if they have a disease before the onset of symptoms.

These tests allow people to prepare for a disease they may or may not have. Also by finding out

about the disease before on onset of symptoms they may be able to lessen the intensity of the

disease and its symptoms. (Alliance, G.)

Genetic tests can be done multiple ways based on what the doctor is trying to discover or

focus on. There are three different methods of genetic testing, molecular genetic tests or gene

tests, chromosomal tests, and biochemical genetic tests. (Genetics Home Reference) Each test

studies a different purpose in order to give the physician the appropriate information. A

molecular genetic test, or a gene test, studies a single gene or a small string of DNA. This allows

for a physician to check for a genetic variation from mutations or variations that are located in a

specific location. These types of tests are used when the physician is looking for a specific

mutation within the gene. Chromosomal genetic tests are done when the large strands of DNA or

the whole chromosome to see large changes in the genes. One instance where this would be used

is to see an extra copy of the chromosome, such as in Trisomy-21 or Downs Syndrome. Then

biochemical genetic tests studies the level of protein activity or amount. The protein activity can

indicate a change in the DNA that could cause a genetic disorder.

After a genetic test is taken, it can take weeks to several months for results to come back,

although in the case of prenatal genetic testing results may come quicker since pregnancy based

decisions are often time sensitive. (Genetics Home Reference) When the results do come back,

the physician evaluates the test considering things like the patients medical history, family

history, or the test that was used. The results can be considered either positive, negative, or

inconclusive. A positive result means that the laboratory found a distinct change in a persons

genes that indicates that the person has the disease, is a carrier of the disease, identify a persons

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increased ability to develop the disease in the future, or that need for further genetic testing.

While a positive result can allow a person to know about a particular disease, it does not allow

the person to know the track or severity of the condition. A negative result most commonly

means that a person does not have or is not a carrier of the disease at question. However, at time

a negative result can mean that a test could have missed a disease causing gene alteration.

Genetic tests are not capable to detecting all genetic changes. An inconclusive test, also know as

uninformative, indeterminate, or ambiguous, means that the test was unable to say if a person

does or does not have a genetic disease. This can result from polymorphism, or changes in the

the gene that dont cause issues to the person. It can also happen when the test finds a change the

gene that has not been seen before. In this situation, it is difficult to tell if this change is another

polymorphism or a possibly harmful change. Some of the mystery can be solved through having

other family members test their genes for the abnormality. (FAQ About Genetic Testing)

Genetic testing can also become quite costly depending on a persons situation. Infant

testing varies from state to state as some states cover parts of the fees. They can range from $15

to $60 for a baseline test. Further testing will cost more and will more likely not be covered by

the state. Other forms of genetic testing can range from $100 to more than $2,000, depending on

the complexity of the test. More tests being required or multiple family members being tested

also requires more investment. (Genetics Home Reference)

Although many see the benefits of these test, there have been many possible issues with

genetic testing and its implications brought to light in recent years. Many believe that with the

ability to test to see if someone is a carrier or has a genetic disease, life insurance providers and

employers will be able to discriminate people based on their genetic code. These fears are not too

far from the painful truth either. There is history of courts and medical institutions opting to

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sterilized those who they believed had inferior genes to prevent the spread of these genes. For

example, in the court case Buck vs. Bell, a woman named Carrie Buck was sterilized after her,

her mother, and her daughter were all feeble minded. This wasnt a rare occasion either, it was

backed by Virginias 1924 eugenic sterilization law. These issues continued on. In the 1990s,

judges were condemned by the American Medical Association for giving mothers convicted of

child abuse a choice between jail time and taking Norplant, a conceptive. (Fulda, K. G., &

Lykens, K).This was said to be against a persons reproductive rights. In an effort to counteract

these actions, Congress enacted the Genetic Information Nondiscrimination Act, or GINA.

GINA prevents people, employers, and life insurance companies from discriminating against

someone based on their genetics. However, GINA is rather limited in that it doesnt include

insurance companies, long-term care, or disability. Since the passing of GINA, many states have

passed other laws that prevent genetic discrimination, so each state now has every degrees of

protection. Still, people fear that with the rise of genetic testing insurance companies will begin

to use it as an entrance ticket into coverage. (Genetic Testing Why It's Done) Genetic testing also

bring up the debate of who gets to know about a persons results. Many believe that the family

should be alerted of results since there is a possibility that they too could also be a carrier or have

the disease themselve. Other believe that they have the right to choose if other know about their

results since its their genes. (Suthers, G. K., Armstrong, J., McCormack, J., & Trott, D.)

Whats Next?

This research experience taught me about about the organization and determination I

need to have when approaching a writing piece like this. I now have a better understanding that

the more effort I put in with my research organization the easier it is to draft the essay at the end.

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Also I learned that sometimes things will not always work out in my favour though my inability

to connect and meet with the professional I wanted to. Moving forward I will continue to do the

things like organizing better and planning ahead but I will also keep in mind to do something I

enjoy. Writing about a topic that I find enjoyable make the writing process much easier because I

found enjoyment in my research. I wanted to learn more and I was excited every time I

discovered something new. I also learned that when researching, make sure that you understand

all the basics before diving into the hard stuff, it will save time and hopeless struggling though

things you dont understand.

References

A. (2017). Genetics for Physician Assistants. Retrieved from http://www.nchpeg.org/pa/i

ndex.php?option=com_content&view=article&id=54&Itemid=54

Alliance, G. (2010, February 17). Diagnosis of a Genetic Disease. Retrieved from https://www.

ncbi.nlm.nih.gov/books/NBK132142/

FAQ About Genetic Testing. (2015, August 27). Retrieved from https://www.genome.gov/

19516567/

Fulda, K. G., & Lykens, K. (2006, March). Ethical issues in predictive genetic testing: A public

health perspective. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564466/

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Genetic testing Why it's done. (2013, July 19). Retrieved from http://www.mayoclinic.org

/tests-procedures/genetic-testing/basics/why-its-done/prc-20014802

Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/

Suthers, G. K., Armstrong, J., McCormack, J., & Trott, D. (2006, August 01). Letting the

family know: Balancing ethics and effectiveness when notifying relatives about genetic testing

for a familial disorder. Retrieved from http://jmg.bmj.com/content/43/8/665.short

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