For my topic, I am looking to pursue Genetic Testing for certain disorders (bottom right). I am pursuing this topic for its combination of ethics and legal rights as well as its importance to my future career in health care. Either way, this topic deals with taking DNA samples of adolescents or adults to see if they will develop a certain disorder or disease. Some professionals see it as a great idea to start treatments or prepare a patient for the future. Others argue that it could take lives away, and it is not right to change lives based off findings.
Although health care professionals may be able to detect diseases in the early stages of life, is it morally right to do so? Could we start treatments early to see if they work? What if the patient does not want to know? These are all questions that I must look to answer as I develop this topic. Also, as I look further into this idea, I wonder if genetic testing will actually be a huge part of my hopeful future career in health.
This is my tentative schedule for my plan as well. The paper is due March 23rd.
As an 18-year-old student from a small town in the northern state of Wisconsin, some may believe that I do not have the knowledge or capability to understand the health science field. Granted, I have only undergone two years of researching different aspects of the medical field through a Health Science Academy, a program that gives me experiences in different hospitals and clinics. Nonetheless, as an adolescent who has been enduring the age of evolution, technology, and studying medical technology, I still feel as though I do have the ability to understand the impact of new advancements in the health science field. This does include the legal and the ethical influence. Today, one of the most important advancements just is genetic testing for certain disorders or mutations. As some will look to focus on its benefits for lifestyle changes and medical growth, others will look at the ineffectiveness and the burdens it causes. Through research, I will objectively examine all physical and moral outcomes of this difficult and controversial process to arrive at an outcome that hopefully all can understand.
Genetic testing is a large and powerful subject that leaves many words undefined. Even the title leaves room for uncertainty. To break apart the title, genetics are inheritance patterns that develop over generations. With that, the testing of these genetics is the analysis of a person’s historical make-up to see if a person has a predisposition to a health condition. Of course, the question of predisposition will be brought to the table, which includes the genetic factors that make a person vulnerable to develop this condition in the future. To further explore into this title, I must separate genetics and testing once again. Genetics all starts with Deoxyribonucleic Acid (DNA). It is the chemical compound that makes up genes, the basic unit of heredity from past generations. The complete set of genes carried by an individual or specific cell is called a genome. Furthermore, this genome makes up the DNA of any living human. Overall, DNA is held in chromosomes, which the 23 chromosomes of the human body also hold proteins for that body. Basically, genetic testing is just the mapping out of all these chromosomes in DNA? Not quite. There are different things that everyone looks for in a test. For example, mutations are permanent changes in a gene that could harm bodily functions. Lab workers may also look for proteins, which are the main components of someone’s physical body structure. They may look for carriers of diseases. A carrier is anyone who has the trait, but it is not active within their body. Basically, they could pass a form of the disease down to one of their children. Finally, genetic testing may be used for forensic evidence, or deals with matching DNA of a crime. Now that genetic testing is understood, there are other words today that surround the topic that need to be defined as well. Many put it in the question of ethics. I see ethics as the moral principles that govern each person’s actions. In this situation, ethics would be deciding if it is right or not to complete the procedure on a patient and if it would be right to tell the patient in the situation. Within my definition of ethics is moral, which I see as the difference between right and wrong. The second and final part of genetic testing is questioning to see if something is lawful or not. Lawful is if an action is recognized or allowed by rules within the society (Health Center for Genetics Education). Hopefully these words help you as an audience better understand genetic testing, and come to your own position on the topic.
Literature Review: Opposing
Vandana Shiva, an Indian Scholar, once said, “Genetic engineering has never been about saving the world, it’s about controlling the world” (Gorman par. 1). Obviously, genetic testing is not accepted by everyone. Many feel it is more of a burden than a solution to disease mapping in today’s society. Many wonder what is done with their genetic information. Many wonder how their results will impact them in the future. Basically, opposing scientists have one important question: what would life be like if genetic testing was never discovered? In short time, it is predicted that each person will have their DNA tested in some way, and some fear the results. Genetic testing may not be the solution to the disease or cancer issue.
Inaccurate testing is still a popular topic in the health science field today. A study done by Brigham and Women’s Hospital in Boston showed that genetic testing results for breast cancer were flawed almost half of the time. The same thing happened with ovarian cancer. The same flaws reappeared with prostate cancer as well. Basically, some patients were wrongly told to worry about a disease risk while others were wrongly told that they can relax (“How Accurate” par. 1). Brian Winterhalter, a genetic attorney of Massachusetts, explains it best by saying, “The FDA warned that false positives—for example, being told that one has a high risk of breast cancer when really one doesn’t—might lead customers to seek expensive testing or medical treatment that they don’t really need. False negatives—which are just the opposite—might lead customers to ignore serious health problems or deviate from a prescribed treatment regimen” (par. 2). Basically, many are not able to trust their results and end up wondering what they should do anyways. Furthermore, mutations, the differences in genetic material that lab researchers look for, are not completely understood as well. Heidi Rehm, a genetic lab chief at Brigham and Women’s Hospital, declares, “Most [mutations] are of unknown significance – a quandary for doctors and patients alike. And most variants are uncommon, making it even tougher to figure out which ones matter and how much” (“How Accurate” par. 5). This is mainly due to the fact that only 172,000 variant mutations have been discovered, which is compared to the millions that are estimated to exist. Conclusively, the inaccuracy of these readings causes harm to too many patients. Rehm explains how she had one patient who could have had a preventative procedure done for breast cancer if the correct analyses were done on her tests (“How Accurate” par. 13-14). Without accurate tests, many are beginning to wonder the purpose of the evolutionary invention.
Genetic discrimination is naturally a concern for anyone looking to be tested for any disorder or disease. Simply stated, it is when someone is treated wrongly or denied from health insurance or employment due to positive future disorder results from a genetic test. Hundreds of cases of this apparent injustice have been documented over the past 20 years now, and as the field of testing grows, many fear that discrimination will increase. As medical information is confidential, these different situations must remain with only first names, but they do show the negative impact of genetic tests. For instance, a seven-year-old Danny in perfect health has a genetic test that supposedly predisposes him to a heart disorder in the future. Because any genetic test shows up on medical records, health insurance companies deny him coverage. On the other hand, Mary has a family history of breast cancer and chooses not to be genetically tested in case of a positive result (“Genetic Discrimination” par. 4 & 7). The Council for Responsible Genetics states it best, “Genetic testing is not only a medical procedure. It is also a way of creating social categories” (“Genetic Discrimination” par. 20). Basically, many have been denied basic benefits and are separated from the rest of the human race due to results. On another note, to correct the injustice, the government has put into place the Genetic Information Nondiscrimination Act to prevent companies and employers from denying clients benefits due to test results. Studies, such as MedSeq still sees the fear of discrimination. For a genetic study they ran, over 25% declined due to the fear. Plus, there have been more than 300 cases within the past six years still after the act (Green par. 15 & 17). Genetic testing poses problems within social injustice areas.
Ethics and beliefs are another reason for some to oppose different tests. To set the table, in a study done by Oxford Academics, only 24% actually endorse genetic testing for the use of preventing diseases (Vermeulen par. 17). According to many different professionals and human beings, there are some reasons for this disapproval. First, many are beginning to wonder about the privacy of their results. The Alliance of Genetic Support Groups, in Chevy Chase, MD says that, “Information learned about you or your family through your participation in genetic research can become known to persons other than the research team” (Friesen par. 15). In other words, information about anyone’s results are shared worldwide. Whether it’s other professionals, researchers, or advertisers, the information will be readily available to them. Many (90%) disagree with this as they want their information kept a secret between them and their provider. Secondly, consent, or telling individuals of their results, is another problem. Some of the population believes this places too much control into the hands of the people and takes away the work of God. For instance, for prenatal testing, the genetic makeup of a fetus can already be changed before it is born, which leads to a lot of controversy. Finally, many worry about the cost of such devices and processes. As of late, the genetic test has been costing a single patient almost $2000. Plus, without insurance covering all of the benefits, the out-of-pocket cost is expensive (Friesen par. 31-40). Basically, if it is not available to everyone, should it even be an option at all? This ethical question and more are leaving citizens to wonder its prevalence in today’s society.
There are specific and logical reasons why some are still holding out against these predictive tests, but what is the response today? Why are some still in favor of such an idea? Since genetic testing is involved in so many lives and will no doubt be an important part of the future, what differences will need to be made in the system so more accept the idea? All of these questions must lead to further research on the topic to truly come to a solid point on what is best for the country. Hopefully, the complexity of genetic testing will be simplified through this research to help us better understand what that worldwide decision actually is.
Friesen, Tim. “The Genetic Testing Controversy.” North Dakota State University. NDSU, 2017. Web. 02 Mar. 2017.
“How Accurate are Genetic Test Results?.” CBS News. CBS Interactive Incorporated, 2017. Web. 02 Mar. 2017.
“Genetic Discrimination.” Council for Responsible Genetics. CRG, 2017. Web. 02 Mar. 2017.
Green, Robert, et. al. “GINA.” The New England Journal of Medicine. Massachusetts Medical Society, 2017. Web. 02 Mar. 2017.
Vermeulen, Eric, et. al. “Public attitudes towards preventive genomics and personal interest in genetic testing to prevent disease: a survey study.” European Journal of Public Health. Oxford Academics, 2017. Web. 02 Mar. 2017.
Winterhalter, Benjamin. “Private DNA Tests Raise a Variety of Privacy Concerns.” Opposing Viewpoints. Gale, 2015. Web. 28 Feb. 2017.
Literature Review: Supporting
“Improve health and prevent harm through valid and useful genomic tools in clinical and public health practices” (Genomics par. 1). The office of Disease and Prevention and Health Promotion released this as their main goal for the year of 2020, released their hope for the genetic testing world to soon become the power of medicine. Either way, many are beginning to realize that genetic testing may just be the future for medicine. Medical professionals and other organizations are wondering how the evolutionary topic of genomics is supporting and advancing healthcare. By doing this, many study its uses in diagnosing, prediction, and its benefits in treatment plans. While many still wonder about the different ethics involved, our country is beginning to learn more about different diseases and disorders that can be detected using genetic testing. In the future, the mapping of our genes may be like death and taxes as its prominence is increasing.
Diagnostic genetic testing has recently become popular to detect certain mutations in the DNA of all ages today. In fact, physicians at the National Genome Research Institute state the function of these diagnostic tests as, “An emerging medical discipline that involves using genomic information about an individual as part of their clinical care. They can be used to either confirm or rule out presence of a disease” (“What is Genomic” par. 1). Simply stated, by mapping out one’s DNA information, doctors are able to find if a person has the mutation for a disease or if they are clear for development. Furthermore, Maureen Salamon, an expert in the field of genomics, is already seeing over 50 diseases and disorders that are detected with the use of these genomics, including popular cancers, mental diseases, and even degenerative diseases. First, an example of a unfortunate cancer is breast cancer, which is detected by a mutation in the BRCA gene. Each year, genetic testing is responsible 200,000 diagnoses to those that have had no family or medical history of the disease. Second, an example of a mental disorder is intriguingly bipolar disorder, which can be detected 93% of the time on the ANK3 gene. Finally, degenerative diseases, like Parkinson’s, is actually diagnosed by researchers looking at the variations of the LRRK2 gene, and is 99% accurate (Salamon par. 2, 5, 7). Beyond basic disorders, genetic testing may have another impact. The National Genome Research Institute again states, “Whole genome sequencing (studying all 23 chromosomes) has been used to help diagnose rare disease cases” (“What is Genomic” par. 16). For example, a young boy in Wisconsin was wrongly diagnosed and treated with colorectal cancer until his genome revealed an inflammatory bowel disease (“What is Genomic” par. 17). In some eyes, genetic testing is the future to diagnosing.
Beyond just diagnosing, researchers have also looked at human genomes in order to predict diseases. Many diseases are actually engrained in DNA from the creation of the fetus. According to the Office of Disease and Health Promotion, “Genomics plays a lessening role in 9 out of the 10 leading causes of death” (“Genomics” par. 4). Basically, by predicting diseases with genetic testing, treatment can be provided in order to help lower the risks of each of these mortality causing disorders, such as stroke, heart disease, and alzheimer’s. In 2016, the Kindstedt family became extremely happy, even with the situation they were in. The daughter of the family, Amy, hated one thing: her pleuropulmonary blastoma, a rare cancer caused by a gene mutation. On the other hand, she is extremely grateful for predictive genetic testing as it may have saved her brother from the same pain she experienced. While researchers looked at his genome, they were able to detect a mutation for the same cancer that had yet to develop. This way, Amy’s brother has already started treatments and should be cancer-free (“How Genetics” par. 1-3). Now, according to medical records, the Kindstedt’s are not the only ones that have benefitted from predictive tests leading to treatment. For those who were predicted to someday have ovarian cancer with testing, preliminary surgery has reduced the risk by 69%. For those who were predicted to someday have breast cancer, preliminary surgery has reduced the risk 85% (Genomics par. 2). Sara Witherington, a genetic counselor, exclaims her feelings by saying, “Genetic testing may save your life” (par. 11). With the use of these new predictive options, many believe the future of disease/disorder prevention is in the hands of genetic testing.
Genetic testing may be great to help patients predict and start treatment, but they may be even more revolutionary as they have assisted researchers and clinicians create a new therapy and personalized pharmaceuticals. First of all, gene therapy has been revolutionized by genetic testing. Brandi Rocholl, a genetic expert at Johns Hopkins, describes this therapy as, “The introduction of genes into existing cells to prevent or cure a wide range of diseases” (par. 2). In other words, genetic testing first finds mutations and ‘perfect’ DNA. Then, the mutation is replaced with this new DNA in order to better the health of the patient. Today, researchers are trying to move toward an ultimate solution. For example, a four-year-old girl had a genetic mutation that failed to produce a vital enzyme. Consequently, she developed a severe immune-deficiency disease. With the help of genetic testing, new genes were engineered, and the girl is now outgrowing the disease with only annual check-ups (Rocholl par. 2-3). Rocholl, along with many of her colleagues, are so confident in genetic testing’s new treatment that she said, “Gene therapy could be the last therapy that the human race ever needs” (par. 1). Whether she is right or not in the future, another drug therapy, called pharmacogenomics, is now in the making with the assistance of genetic testing. To be exact, researchers label pharmacogenomics as the testing of genes to find a person’s response to different drugs. Why are they so important? Mark Dunnenberger, the leader of the first pharmacogenomics clinic, explains, “99 percent of us may have small variations in our genes that can also impact how we react to common medications… Now, through a new kind of genetic testing in a field known as pharmacogenomics, some doctors are able to identify a number of these variations to help predict how their patients might respond to a new medication” (par. 2-3). In other words, by looking at genetic sequences, doctors are able to prescribe personalized medications in order to help treat specific disorders. He even continues on to describe, “Genetic tests help narrow down medication choices, especially when it comes to treatments for pain and psychiatric medications” (Dunnenberger par. 5). Without much knowledge, pharmacogenomics has yet to grow, but is seen by many professionals to once again be a future treatment, with the help of genetic testing. Treatments are evolving and benefitting from genomics.
From being able to diagnose, to predict, to even create new treatments, genetic testing is already seen to have a positive mark on healthcare right now. But the main question that many provoke is what is this testing going to do for the future? What are professionals and lawmakers going to do about the ethics of this situation? In the future, it is important to look at the overall benefit of genomics, and if these tests have actually helped the overall people. As of right now, professionals have shown an increase in genetics positive use for healthcare.
Dunnenberger, Mark. “7 Things to Know about Pharmacogenomics.” U.S. News. World Report, 2016. Web. 8 Mar. 2017.
“Genomics.” Healthy People. Office of Disease and Health Promotion, 2017. Web. 6 Mar. 2017.
“How Genetics Can Help Predict- and Sometimes Stop- Childhood Cancers.” Dana-Farber Cancer Institute. Dana-Farber, 2017. Web. 7 Mar. 2017.
Rocholl, Brandi. “Gene Therapy: Revolutionizing Medicine.” North Dakota State University. NDSU Publishing, 1996. Web. 8 Mar. 2017.
Salamon, Maureen. “7 Diseases you can Learn About from a Genetic Test.” LiveScience. Purch, 2010. Web. 7 Mar. 2017.
“What is Genomic Medicine.” National Human Genome Research Institute. NIH, 2016. Web. 5 Mar. 2017.
Witherington, Sarah. “Ten Reasons why Genetic Testing is Important.” I Have Lynch Syndrome. Chicago Genetic Consultants, 2014. Web. 6 Mar. 2017.
The Warning Label for Genetic Testing
A family of ten from Antoquia, Colombia is in an extremely rare situation. They are one of few families with a history of a genetic mutation that causes a deadly, early onset of Alzheimer’s disease. In fact, the father, Victor, is currently dying of this mental impairment at the young age of 51. Because of his development, all eight of his children have a 50-50 risk of contracting the disease (Stahl). However, using genetic testing, they all could discover their personal risk for this disease, which may lead to early treatment. But is genetic testing the right answer for this family?
As a student at a small high school in Wisconsin, some may believe that I do not have the knowledge or capability to grasp such high-intelligence concepts, such as the genetic testing of a Colombian family. Granted, I have only undergone two years of researching different aspects of the medical field through the Health Science Academy, a program that gives me experiences in different hospitals and clinics; nonetheless, as an adolescent who has thrived in the age of evolution and medical technology, I still feel as though I have the ability to understand the impact of new advancements in the health science field.
One of the most controversial advancements over the past twenty years is diagnostic and predictive genetic testing for certain disorders or mutations. There are great advancements and some experiments have been successful, but are too many people in today’s world ignoring the red flags testing raises? Are we allowing humankind to possess too much power?
According to the Health Center of Genetics Education, a genetic test is specifically the “Analysis of an individual’s genetic makeup to determine predisposition to a particular health condition or to confirm a diagnosis of a genetic condition” (“Genetic Fact Sheets”). In simpler words, a genetic test starts with the physician ordering a blood or saliva sample from a patient. Then, a lab will will look for any mutations, or strange differences, within the results to see if a patient has a disease or is predisposed to one. Finally, the geneticists will tell the ordering physician the results for the patient. In reality, the physical process of this test is shockingly simple. The process seemed so easy that in 1996, the Office of Disease and Health Promotion promised us as a country one thing: genetic tests will be the future of healthcare in twenty years as they will help in almost every single patient case (“Genomics”).
Twenty-one years later, the children of the Colombian family are in the process of realizing how far genetic testing has actually come from 1996 as they have been given option to be tested. In fact, if they test positively, they could begin a first-time treatment that may just be the cure for Alzheimer’s. So, why are these children choosing not to be tested? Each and every one of them has their own reason for this decision. While genetic testing does offer some potential solutions, there are still imperfections, discrimination, and ethical issues that still need to be addressed.
I cannot argue that in the 21st century, genetic testing has advanced to where genetic tests can now accurately diagnose disorders and diseases. In fact, physicians at the National Genome Research Institute state the function of these diagnostic tests as, “An emerging medical discipline that involves using genomic information about an individual as part of their clinical care… They can be used to either confirm or rule out presence of a disease” (“What is Genomic”). Maureen Salamon, an expert in the field of genomics, has already seen over 50 diseases and disorders detected with the use of these genomics, including popular cancers, mental disorders, and even degenerative diseases. First, breast cancer can now be detected by a mutation in the BRCA gene. Each year, genetic testing is responsible for 200,000 diagnoses to those that have had no family or medical history of the disease. Second, bipolar disorder, a mental impairment, has a 93 percent detection rate. Finally, Parkinson’s disease, a degenerative malfunction, is actually 90 percent accurate (Salamon). At the age of 51, Jean (a pseudonym) believed in one of these tests. In 2016, her physician ordered a genetic test to see if she had the mutation for breast cancer. When the test came back, the DNA showed that Jean’s cancer was still in stage I. Without the test, the physician worried that Jean’s symptoms may have gone unnoticed until stage III or IV. With this detection, she has now been able to plan tests for her and for her children (“Genomics”). In the eyes of some, a diagnosis for a disease may just be one drop of blood away.
In eyes of others, this is not the case. Cecilia, a daughter from the Colombian family, disagrees with this view. She questions, “What if the test results are wrong? How will I know if they screwed up? Why would I want to change my life based off a false test result?” (Stahl). Many patients like Cecilia are worried about possible inaccurate results from genetic testing, and they have every right to be skeptical. A study done by Brigham and Women’s Hospital in Boston showed that genetic testing results for breast cancer were flawed almost 25 percent of the time (Winterhalter). The same flaws reappeared with prostate cancer as well. For tests such as ovarian cancer, doctors can only detect the actual mutation half of the time. And what about Cecilia’s chance for being identified for Alzheimer’s disease? She is down to only an 80 percent chance of actually being diagnosed correctly (Stahl). No wonder why she is so worried that her results may be flawed.
Many, including myself. question what it means to possess a certain chance of having their mutations detected when in healthcare everything should be 100 percent correct. Basically, some patients are incorrectly told to worry about a disease risk while others are incorrectly told to relax. (“How Accurate”). Brian Winterhalter, a genetic attorney of Massachusetts, explains it best by saying, “The FDA warned that false positives—for example, being told that one has a high risk of breast cancer when really one doesn’t—might lead customers to seek expensive testing or medical treatment that they don’t really need. False negatives—which are just the opposite—might lead customers to ignore serious health problems or deviate from a prescribed treatment regimen”. Although there are many examples of this, one from 2010 really strikes me as fascinating. Larry (a pseudonym) was originally tested for prostate cancer. The test results were negative, but a year later, he was feeling extreme pain during urination. After further testing, he discovered he had already developed the rarest stage of prostate cancer because he was falsely told to relax, and failed to receive the treatment. Unfortunately, in 2012, Larry passed away from his prostate cancer (Winterhalter). To further exasperate the problem, geneticists still do not know if they have found all of those small mutations that cause deadly diseases. In other words, the human genome is so large that it has yet been fully uncovered and researched (“How Accurate”). Basically, many patients are unable to trust their results and end up turning to other diagnostic tools anyway.
For Cecilia’s early onset of Alzheimer’s, studies done by the National Institutes of Health have shown that there are other more accurate options for her. For instance, Cecilia could begin using Magnetic Resonance Imaging (MRI) in order to detect her chance of Alzheimer’s in the future. She could also have a neurological test done. In fact, it is not just Alzheimer’s that has other diagnostic options, but many other cancers and disorders are in the same situation. Breast cancer could use a mammography. A prostate exam by the doctor could be used to detect prostate cancer (“How Accurate”). With so many options that have been reliable for so many years, many wonder why we should just switch to the sometimes inaccurate genetic test.
Even though there are still notions that these tests are inaccurate, patients still try to use genetic tests to check for their disease risk in the future. In fact, geneticists call this predictive genetic testing. Researchers actually look at human genomes in order to predict diseases for the person and for future generations. Most diseases are actually engrained in DNA from the creation of the fetus (Green, et al.). According to the Office of Disease and Health Promotion (ODHP), “Genomics plays a role in [lessening the chance of death for] nine out of the top ten leading ways” (“Genomics”). The ODHP is trying to say that by predicting diseases with genetic testing, some treatments can be provided from birth in order to help lower the risks of each of these fatal disorders, such as stroke, heart disease, and breast cancer.
An example of an actual successful test happened in 2016 with the Kindstedt family. Their daughter, Amy, hated one thing: her pleuropulmonary blastoma, a rare cancer caused by a gene mutation. She used predictive genetic testing to save her brother from the same pain she experienced. While researchers looked at the child’s genome, they were able to detect a mutation for the same cancer that had yet to fully develop. Because of this, Amy’s two-year-old brother has already started treatments and should be cancer-free his entire life (“How Genetics”). According to medical records, the Kindstedt’s are not the only ones who have benefitted from predictive tests leading to treatment. For those who were predicted to someday have ovarian cancer with testing, preliminary surgery can reduce the risk by up to 69 percent. For those who potentially could develop breast cancer, preliminary surgery can help reduce the risk 85 percent (“Genomics”). Sara Witherington, a genetic counselor, states her feelings by saying, “Genetic testing may save your life.” With the use of these new predictive options, the world has the opportunity to be changed, but does it take advantage?
What interests me most is the harm these predictive tests may cause. Back in Colombia, Julio, Cecilia’s younger brother, still has his doubts about these tests beyond the typical inaccuracies. Basically, Julio fears genetic discrimination. Simply stated, genetic discrimination is when someone is treated wrongly or denied health insurance due to positive future disorder results from a predictive genetic test (Green, et al.). He worries, “I have heard stories of where people had a genetic test done, and because it showed they had some disease, insurance companies would not cover them” (Stahl). Julio is not the only one who questions this discriminatory action as other patients are worried as well. For instance, a seven-year-old named Danny, in perfect health, has a genetic test that supposedly predisposes him to a heart disorder in the future. Because any genetic test shows up on medical records, health insurance companies have denied him coverage. On the other hand, Mary has a family history of breast cancer and chooses not to be genetically tested in case of a positive result (“Genetic Discrimination”). Mary and Danny are two of more than thousands each year forced to worry about such factors like these.
Overall, many, including myself, disagree that predictive genetic testing is the only way to decrease the death rate. Dr. Bert Vogelstein, a doctor at the center for Cancer Genetics believes, “Prudent screening, early diagnosis and prevention strategies, such as not smoking and removing early cancers, will be the keys to cutting disease death rate [not genetic testing].” Vogelstein is asking why we need to focus on genetic testing to solve the mortality problems when there are other reliable options. The Council for Responsible Genetics brings in an interesting idea as they say, “Genetic testing is not only a medical procedure. It is also a way of creating social categories” (“Genetic Discrimination”). Basically, when people are genetically tested, they already are separated from the rest of the population as they will not be granted the same health insurance and employment opportunities. As Julio and many others fear, genetic testing can create discrimination in certain areas.
The last part that bothers me overall about these genetic tests are the ethical issues they raise. The other six children of the Colombian family, along with many others, are skeptical of this very thing: the overall ethics of genetic testing. In the times clear of Alzheimer’s confusion, their father, Victor, even claims that these tests are not right for mankind. He explained once, “This testing of genetics just sounds like we are trying to play the role of God. Why are we trying to decide the fates of specific children that are born of the Lord, when that is his job?” (Stahl). His children and millions of people around the world believe our hands are using too much genetical advancements to recreate the natural human body. For instance, for neonatal babies, geneticists can already change the genetic makeup of a fetus. For adults, patient drugs are being developed in order to destroy genetic mutations in the human body (Friesen). Michael Sandel, a professor of Bioethics at Harvard University, summarizes the point by arguing, “We should accept the ‘gifted’ character of existence and not try to control everything. The attempt at such control is an example of overreaching the bounds of the properly human” (Hinman 15). Even with medical gains within genetics, the rights of all humans are still not being respected.
Now that we are officially in the ‘future’, according to the Office of Disease and Health Promotion, let us overview how far we have actually come with genetic testing. Do we have answers for Cecilia who worries about inaccurate test results? Can we promise patients like Julio that they will not lose their entire health insurance plan? How are we going to reassure parents, such as Victor, family members, and friends who are afraid that genetic testing is overstepping its boundaries? The fact of the matter is, there are no answers.
With all of these unanswered questions, I do not believe that we can use this genetic testing in our healthcare system today. The inaccuracies, discrimination, and religious ethics of these tests provide many unknowns that do not protect the patient today. This is not solely my opinion either. A group of scientists studying genes at John Hopkins University say, “Genetic sequencing (testing) fails to provide informative guidance to most people about their risk for most common diseases, fails to provide privacy for discrimination, and fails to provide a resolution to the ethical issues” (Vogelstein). Since genetic testing creates so many problems within patients and healthcare in general, is there another use for this new phenomenon?
Surprisingly, in my mind, there is. As the Colombian family did not look to be tested for themselves, they did look to be tested for the rest of the world. In October of 2016, each member joined a $15 million program run by the National Institutes of Health. Here, the family, along with 200 others, were anonymously genetically tested for this disease. Then, the nameless sample each person entered was taken to a lab where researchers recognized one similar thing about each Alzheimer’s mutation: they all signaled towards amyloid plaque. Today, every member of this study is receiving some form of treatment; half with a harmless placebo (fake treatment) if they do not have the Alzheimer’s mutation and the other half with a treatment to rid of the plaque if they do have the disease. This way, no one knows their true results (Stahl). Unfortunately, the results will not be available for another twenty years, but I believe there is hope for this Colombian family.
I am not the only one who sees the light of research genetic testing. The National Institute of Health believes, “The goals of research testing include finding unknown genes, learning how genes work, developing tests for future clinical use, and advancing our understanding of genetic conditions” (“How does Genetic”). They predict that eventually there will be anonymous research studies like these for almost every other disease in order to one day find cures (“How does Genetic”). This is the future. This is where we start. This is the beginning.
Imagine that you were told that you have the possibility of a mutation in a gene that can cause Alzheimer’s. Your doctor comes to you and gives you the option of taking a genetic test to see if you are at risk for the disorder. What would you do? Looking at the Colombian family, I feel as though they have modeled the future for us. Cecelia has shown that we are not able to trust diagnostic genetic tests. Julio has shown that predictive tests cause genetic discrimination. The entire family has shown that we need to look out for our own human rights. That is the past. Instead, we need to look towards the future. We need to focus on gaining genetic knowledge. We need to focus on finding cures to diseases. It is time to switch our focus from diagnosing patients to researching for a difference in the care we provide to all patients. In the end, the Colombian family made their choice, I have made mine, but what are you going to do?
Friesen, Tim. “The Genetic Testing Controversy.” North Dakota State University, 1996, www.ndsu.edu/pubweb/~mcclean/plsc431/students/friesen.htm.
“Genetic Discrimination.” Council for Responsible Genetics, 2017, www.councilforresponsiblegenetics.org/ViewPage.aspx?pageId=85.
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Author: Isaac Trocinski