Part IV: Isaac Trocinski

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.

Works Cited
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.


3 Comments Add yours

  1. butada17 says:

    I really like how you integrated personal stories of people who’ve benefited from this for of testing. My main question is how is this testing going to be funded and should everyone be tested? If these genetic tests have found traces of diseases in people with no family history of the disease, when should people first get tested and how often? You could also tie in a personal experience of someone you’ve known who’s went through this testing–if you happen to know anyone.


  2. lasand17 says:

    For centuries humans have been searching for the cure to all disease. You definitely sell genomics and its counterpart pharmacogenomics as effective solutions. The way you wrote the piece made it sound very educated, and it was consistent in tone throughout. I enjoyed all of the data you provided to back up your arguments. Very effective.


  3. mariaekern says:

    Very interesting to hear about false positives and false negatives
    You do a good job of proving your credibility.
    Looking forward to hearing about compromises so genetic discrimination doesn’t happen


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