Genetic Testing: A Question of Morality
What would you do if you could find out what your medical future has in store for you? Would you want to find out or would you rather wait until the time comes? What if finding out could possibly save your life or could at least enhance the quality of your life? What if you found out something that you did not want to know? What if you learned something detrimental and there was nothing you could do about it? These are questions people think about before undergoing genetic testing. There are no correct answers, but different responses could result in many different outcomes.
Since the early 1900s, scientists have recognized the connection between inherited diseases and chromosomes. But it wasn’t until the 1950s that scientists started to develop tests for genetic conditions like Down syndrome (Trisomy 21), cystic fibrosis, and Duchenne’s muscular dystrophy (Dept. of Health & Human Services 1). Today, more than five hundred laboratories offer genetic testing for over two thousand rare and common conditions (1). By looking at the different perspectives of geneticists, patients, consumers, doctors, and ethicists, the many benefits of genetic testing can be shown as well as the lack of prevalence of negative outcomes associated with genetic testing.
There are two different categories of genetic testing: clinical genetic tests and research genetic tests. Diagnostic tests, pre- symptomatic tests, carrier tests, prenatal tests, newborn screening and pharmacogenomics tests all fall under the category of clinical genetic tests. These tests are ordered by a healthcare professional and are done in certified labs. Research genetic tests are volunteer based for exploratory studies. Both clinical genetic tests and research genetic tests look at DNA strands to find abnormalities that can put a person at greater risk to develop a disease. In the past, only one gene could be tested at a time, but today geneticists can screen thousands of genes simultaneously (Univ. of Iowa 2). Most people choose to have a genetic test performed to find the cause of a disease, to find out if they are a carrier of a disease, or to see if their children will develop the disease. Healthcare providers can use this information to find the best treatment and the most appropriate counseling to prepare a person for their future.
The genetic testing process can be broken down into six steps. As detailed by the University of Iowa, the first step is talking to a genetic counselor or a doctor to learn about insurance coverage and the possibility of insurance discrimination. In the office, the doctor will typically take a blood sample and send it to the lab. The next step is getting the DNA from the sample, which is followed by sequencing the DNA to look for abnormalities. The lab will then take the DNA and put it into a DNA sequencer which will collect data on the patients’ genetic makeup. The fourth and fifth steps include analyzing the DNA and then interpreting what it means. Finally, the lab will give back the results to the genetic counselor or doctor and they will share the information with the patient (3). The information provided from genetic testing can be very useful in planning for the future, but it can also be a burden to those who are not ready to accept what the future holds.
In order to evaluate the benefit of genetic testing relative to the possible burdens it could pose for a patient, it is important to look at the causes and the need for genetic testing. Genetic testing can be most useful for diagnosing prenatal abnormalities, cancer, and Alzheimer’s. Prenatal genetic testing is a way for the parent to find out if the fetus has a genetic condition. Typically, most people who are participating in prenatal genetic testing are looking to see if the fetus has a chance of developing autism, Down syndrome, cystic fibrosis, Tay-Sachs disease, or sickle cell anemia (Chen 125). This information can help the parents of the fetus to make an informed decision about whether or not to continue the pregnancy and allow for early interventions with affected newborns. Predispositions to cancer can also be predicted using genetic testing, and with the prevalence of cancer in today’s society, early testing and treatment of cancer can save countless lives.
Genetic testing for cancer can have many outcomes. In the article “The Breast Cancer Gene and Me” published in the New York Times on September 25, 2015, Elizabeth Wurtzel shares her experience with genetic testing for breast cancer. Elizabeth Wurtzel is a descendent of the Ashkenazi Jews. Biologically, that means she has a one in forty chance of being breast cancer or BRCA-positive, which is ten times the rate of the rest of the population. Unfortunately, she was diagnosed with breast cancer before these tests were available and had to go through eight rounds of chemotherapy and a double mastectomy. All of these treatments might have been avoided if she had been tested for a genetic abnormality earlier because she could have chosen to have a mastectomy with reconstruction to keep the cancer from spreading. Wurtzel’s experience suggests how useful genetic testing can be because it would have clearly benefited her health as well as the quality of her life. She serves as an excellent example for why many who have a history of diseases in family or cultural lines from genetic abnormalities should get preemptive genetic testing.
Another predictive genetic test can be conducted for Alzheimer’s. By looking at the experience Jane Neilson had with predictive testing for Alzheimer’s disease, the benefits of genetic testing become even clearer. In the article, “A Patient’s Perspective on Genetic Counseling and Predictive Testing for Alzheimer’s Disease,” Neilson offers her opinions on genetic testing and shares her story. Neilson comes from a family with a history of Alzheimer’s disease and was concerned with her own susceptibility. This led her to request information about predictive genetic testing. She describes how she thought long and hard about the possible outcomes with her husband, and ultimately agreed to continue with the process because it would be better to know ahead of time if she will be affected by the disease so she could plan accordingly. Unfortunately, Neilson learned at her first appointment that she was not qualified for the specific DNA test because of her family history. In the article, she writes “after all my introspection on the subject, there were no clear answers, only fog. I went through agony and soul searching only to be cheated. No tests were available for me. I was also relieved. I didn’t have to go through with it.” Neilson continued to describe how she came to terms with temporarily not knowing her medical future, but she’s optimistic that a test will be available for her someday. Neilson’s case acts as an example of the negative side of genetic testing and its potential burden on a patient for future health problems. Neilson’s case also acts as an example of how genetic testing is not always an option for patients, despite a person’s interest in finding out their genetic predispositions and medical future.
Besides the patients who directly benefit from genetic testing, the families of people with genetic diseases can benefit as well. If a person has been established as at-risk to a disease, family members can also undergo the process of genetic testing. They can have the same benefit of knowing what their future holds and having a chance to prepare for what is to come. They will then also have the possibility of stopping or slowing the progression of the disease. Stephen Post and Peter Whitehouse write about the possibility of someone experiencing “relief from not carrying the familial variant” in “The Clinical Introduction of Genetic Testing for Alzheimer’s Disease.” A family member finding out they do not carry the variant could provide an even greater benefit to the patient and other family members. That is because it would determine the disease is not genetic and most likely stems from an environmental or lifestyle issue. In turn, this could give researchers and care providers more information on the progression of the specific disease.
The patients and families mentioned here so far all see the value in genetic testing, because of the benefit it promises in terms of planning for their futures and the possibility of controlling the full effects of a known disease before it can get worse. In addition, people without a specific disease concern have shown an interest in knowing about themselves and their genetic DNA makeup, and genetic testing can allow for this. Today, many people feel like they have a right to their DNA information and believe they have ownership of their genetic makeup. Now that the means for testing is available, it is more common for people to “seek such testing ‘out of curiosity,’ for the ‘fun factor,’ because they self-identify as early adopters of new technologies or because they want to contribute to genomics research” (Bunnik, Janssens, Schermer). This shift in attitudes towards the adoption of genetic testing shows that testing isn’t only for a patient’s use, but for an interested consumer to use as well. The consumer notion is that genetic testing has psychological, social, and emotional benefits.
Since there has been a tremendous consumer interest in genetic testing as a social and psychological trend, labs have started to offer direct-to-consumer (DTC) genetic testing. This at-home genetic test is a way for someone to find out their genetic information without a genetic counselor or a doctor involved. Typically, one who purchases the kit will either take a cotton swab sample from the inside of their cheek or collect their saliva in a test tube and send it to the lab. The consumer will be notified when their results are ready. The problem with this method is that the average consumer will not know how to read their results accurately. A person might, for example, assume they have a life threatening disease when they don’t. Also, at-home genetic testing does not look at environmental factors, lifestyle choices, or family medical history, all of which can play a large role in the probability of developing a disease. One study on DTC genetic testing has this to say: “the present findings suggest that general practitioners should have the ability to clarify for interested individuals the way in which different genetic mutations are characterized by different risk probabilities, and the meaning attributed to these risk probabilities” by showing the “inconsistencies in the extent and quality of information provided by DTC testing” (Sherman 712). What this means is that the DTC at- home genetic tests cannot provide information as accurate as lab performed tests, and thus it is important to contact a professional to go over the results if they are not clear.
In general, professionals who can evaluate genetic results value the life of the patient and want to provide them with the best healthcare possible. Doctors see value in genetic testing because it provides them with a greater understanding of an individual patient, and it can help them direct the patient down the appropriate path given the specific set of circumstances. In a study of 363 doctors, ninety-eight percent said they would refer their patients to a genetic counselor, and ninety-five percent believed that the doctor has the responsibility to counsel patients about genetic testing (Menasha, Schechter, Willned 144). This significant number shows the value healthcare providers see in genetic testing and how they want to support their patients throughout the genetic testing process. More specifically, Stephen Post and Peter Whitehouse argue that more government funding should be given to genetic testing research because it can be so beneficial for the patients (835). With more funding, geneticists would be able to do more research on other diseases which, in turn, could help more people detect such diseases, slow their progression, and possibly stop the disease completely.
Both patients and healthcare providers see value in genetic testing, but one of the main issues with genetic testing is the ethics surrounding it. In “Ethical Language and Themes in News Coverage of Genetic Testing,” David Craig breaks down the issues of genetic testing into four different categories: (1) whether you want to know your likely medical future, (2) what you would do with the information, (3) the complexity of the choices people face because of developments in genetic testing, and (4) the possibility of discrimination based on genetic information (165-166). It could be argued that whether or not you want to know your likely medical future is not related to ethics as closely as the other three categories. Whether or not a person wants to know what their medical future holds is a personal choice, and genetic testing is very black and white. It is what people choose to do with the information from genetic testing that brings ethics into question and causes genetic testing to enter a grey area.
As an example of the grey area of genetic testing, let’s look at a situation involving a pregnant woman. A pregnant woman can decide whether or not to find out if the fetus she is carrying has Down syndrome before a child is born. Ethics comes into play when a woman finds out that her fetus does have Down syndrome, and is deciding whether or not to terminate the pregnancy based on this new information. Another example of a genetic testing controversy would be undergoing genetic testing for a specific disease that does not have a cure. Knowing that you are a carrier of a disease and not being able to do anything about it except wait for it to worsen seems awful and could put the patient into a state of depression. A third ethical controversy surrounds genetic testing and stem cell research. Because of developments in genetic testing, scientists are able to alter embryonic stem cells, which can lead to the possibility that parents will someday be able to modify their children’s physical appearance and create what is called a “designer baby.” This example alone brings in a whole new level of ethics to the idea of genetic testing.
As for the ethics of non-patient choices regarding genetic screening, tests are added to one’s medical profile, and this can lead to the risk that genetic discrimination could increase dramatically. The National Human Genome Research Institute says that “Genetic discrimination occurs if people are treated unfairly because of differences in their DNA that increase their chances of getting a certain disease.” This includes a health insurer refusing to give coverage to a woman who has a DNA difference that raises her odds of getting breast cancer. Another example provided by The National Human Genome Research Institute is that employers could use DNA information to decide whether to hire or fire employees. In fact, the Genetic Information Nondiscrimination Act of 2008 (GINA) was passed to protect Americans from being treated unfairly. This law aims to prevent discrimination from both health insurers and employers. It was put in place to ease concerns about discrimination that might keep some people from getting genetic testing. It also enables people to take part in genetic research studies without fear that the information could later be used against them.
By looking at the many perspectives from geneticists, patients, consumers, doctors, and ethicists, I believe the major benefits of genetic testing outweigh the possible negatives. I’m especially persuaded by the fact that genetic testing is very important for those who have a family history of disease because the detection of predisposed diseases can help slow or prevent disease progression. In a beautiful conclusion to her article, Jane Neilson writes “genetic testing is more than genes. It tests personal beliefs about life, disease and healing. Use your gifts of knowledge, professionalism, and caring with patience.”
Essentially Neilson is saying that there is so much to be considered with genetic testing, and that genetic testing can lead a person to question their own personal beliefs. It also leads people to think about their finances and about how they want to spend the rest of their life. Knowing this information, do you think you would undergo genetic testing? In reality, there is no correct answer to the question, but I know that I would want to know what my medical future has in store for me. It wouldn’t matter whether or not it’s something detrimental. I believe the possibility of knowing ahead of time would only enhance the quality of my life.
Bunnik, Eline M, A Cecile J W Janssens, and Maartje H N Schermer. “Personal Utility In Genomic Testing: Is There Such A Thing?.” Journal of Medical Ethics 41.4 (2015): 322-326. Health Source:
Nursing/Academic Edition. Web. 19 Oct. 2015.
Chen, L.S., et al. “Autism Spectrum Disorders: A Qualitative Study of Attitudes toward Prenatal Genetic Testing and Termination Decisions Of Affected Pregnancies.” Clinical Genetics 88.2 (2015): 122-128. Health Source: Nursing/Academic Edition. Web. 12 Oct. 2015.
Craig, David A. “Ethical Language and Themes in News Coverage of Genetic Testing.” Journalism & Mass Communication Quarterly 77.1 (2000): 160-174. Humanities Full Text (H.W. Wilson). Web. 19 Oct. 2015.
Department of Health & Human Services 2010, Fact Sheet 1— Genetic Testing: How it is used for Health Care, viewed 2 Nov. 2015, http://report.nih.gov/nihfactsheets/Pdfs/GeneticTesting-How ItIsUsedForHealthcare(NHGRI).pdf
“Genetic Discrimination Fact Sheet.” Genetic Discrimination Fact Sheet. National Human Genome Research Institute. Web. 3 Nov. 2015.
“How Does Genetic Testing Work?” Iowa City: U of Iowa, 2013. Print.
Menasha, Joshua, Clyde Schechter, and Judith Willned. “Genetic Testing: A Physician’s Perspective.” Mount Sinai Journal of Medicine 67.2 (2000): 144-51. Bioethics Research Library. Georgetown University. Web. 2 Nov. 2015.
Neilson, Jane. “A Patient’s Perspective on Genetic Counseling and Predictive Testing for Alzheimer’s Disease.” Journal of Genetic Counseling 8.1 (1999): 37-46. Springer Link. Web. 13 Oct. 2015.
This paper is Maddy’s response to a “contextual analysis” assignment—a longer paper requiring students to unpack a culturally relevant topic from different perspectives. Students contextualized the topic of their choice through the lenses provided by various stakeholders. Maddy wanted to tackle a controversial issue in order to understand more fully why it sparks such fiery debate. While she eventually changed her topic from reproductive health to genetic testing, she maintained her attention on a controversial topic that she wanted to understand better.
I like the way that Maddy uses this paper to weave together an opening background on genetic testing in general with a more substantial consideration of multiple different perspectives on this issue. She writes about genetic testing’s influence on patients and patients’ families, the manner in which it’s approached by the consumer genetic testing market, some doctors’ opinion on this issue, and what ethicists have said about it as well. There is a lot of ground to cover across all these perspectives, and Maddy’s careful organization makes it all clear. One of my favorite parts is when she dives into the ethical considerations of genetic testing and uses the David Craig piece to divide these arguments into different categories that she then connects with specific examples. In so doing, she provides an excellent example of merging outside sources with original content in order to make sense of a very complex issue.
— Matthew Fledderjohann
This paper is a response to a contextual analysis assignment. We were asked to pick a culturally relevant theme and evaluate the topic through at least three different perspectives. Originally, I planned to write about Planned Parenthood and reproductive health. I wanted to work with a topic that was controversial and would challenge me to learn about multiple sides of the debate. After completing some preliminary research, my interests evolved from reproductive rights to learning more about genetic testing.
I had very little knowledge on the subject prior to this project, but I liked that it was a relatively new field of medicine. Before looking into scholarly sources, I spent time reading relevant opinion editorial articles published on the New York Times website. I was able to learn about what genetic testing specifically entails from the perspective of patients and patients’ families, doctors, ethicists, and the consumer genetic testing market. My next step was finding scholarly articles to support the opinions through the specified UW- Madison databases. Although genetic testing is a relatively new science there was a lot of helpful information from a variety of perspectives. After completing my research and crafting a thesis statement that would allow me to incorporate multiple perspectives, I created an outline for the paper and started writing and then rewriting based on the feedback I received from my peers and instructor to create my final piece. I’ve had time to revisit my work on this project and have not identified any significant changes, although I will continue to monitor new research on this very interesting topic.
— Madeline Longo
Student Writing Award: Critical/Analytical Essay