Genetic Testing Dilemma: To Test or Not to Test

Categories: GeneticsTesting

To test or not to test. That is the question. Well, Shakespeare’s Hamlet never had to answer the complex questions regarding genetic testing. But in our modern society we do have to answer these complex questions. Since the development of the Human Genome Project and genetic testing, we have had to answer the difficult question of whether or not genetic testing is the right thing to do. First we have to determine if the cost effectiveness of said testing is a factor in determining whether or not genetic testing is performed.

Secondly, we have to examine the other options that can be used instead of genetic testing. This only reviews what genetic testing is and other options. But genetic testing is a more effective method of finding and treating catastrophic illness. It is also the best way to determine if someone is a carrier of a genetic mutation that causes a catastrophic illness. With one blood test, a person can be put at ease or given insight into their genetic code that will allow them to make informed decisions in regards to their health care.

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Genetic testing is the best way to determine if a person is predisposed to breast cancer, pancreatic cancer, or any other serious diseases. Genetic testing can also determine links between certain diseases and determine the best treatments for said disease or diseases. In order to determine that genetic testing is the best choice in all people that have or have a genetic predisposition for disease, we need to review the available literature on the subject.

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According to Shi et al (2009), there is a genetic link between familial pancreatic cancer and those that carry the gene for breast cancer.

While they advocate the collection of a careful family history, this researcher feels that the collection of genetic data is a better indicator in terms of making sure there is a complete picture of the patient’s health and future health. Memories are fallible. We are hard pressed to remember the diseases of our grandparents or even parents. Genetic testing is the best way to give the ultimate family history. Shi et al (2009) found genetic links between the breast cancer gene one and two and the pancreatic cancer gene. Ozanne et al found genetic links between breast and ovarian cancer (2009).

Additionally, a study conducted by the American Cancer Society and printed in USA today indicates that genetic testing “boosts efficacy in cancer care” (Szabo, 2009). According to the report, “testing tumor tissue for the mutations “saves tons of money, and makes medical care better at the same time,” (Ibid. ). Genetic testing can keep doctors from placing patients on unnecessary drugs that have unwanted side affects (Ibid. ). Shi et al. have determined that genetic testing is the best way to determine what they refer to as “germline mutations” (2009). They even recognize the genetic link between breast and ovarian cancer.

With this linkage, why would there even be a question as to whether there would be genetic testing? The answer should be a resounding “YES”. Genetic testing should not even be a question. With the genetic links that are getting discovered nearly every day, we should have genetic testing as a part of normal blood work when a person reaches a certain age, perhaps 35. Ozanne et al. even remark that in the advanced genomic age that we are in, the collection of a family history is simply not sufficient to define the risks that some women face for these potentially catastrophic illnesses (2009).

Genetic testing is the only way to definitively rule in or rule out the genetic markers and the predisposition for these illnesses. Genetic testing also makes sense from an insurance perspective. Insurance companies should not have to pay for potentially ineffective treatment plans. The American Cancer Society points out that with genetic testing, such things would not occur. In the example cited in the USA Today article, a typical colorectal cancer drug called Erbitux costs about $61,000 for a typical 24-dose treatment.

While it may have some improvement over some older drugs, it is still very expensive. However, over the past year, “several studies have shown neither Erbitux nor Vectibix works in patients with a certain genetic mutation, which occurs in 36% to 46% of all tumors (2009). These drugs have potentially unwanted side effects and can be potentially ineffective in one-third to one-half of all cases. Genetic testing would save both the patient unneeded discomfort and the insurance company thousands of dollars. Genetic testing is also cost effective. According to Holland et al.

, Genetic testing added to the QALY’s (Quality Adjusted Life Years) by . 2 and cost about $118,000 while the no-test strategy generated 22. 7 QALY’s and cost about $117,000. This may not seem statistically significant, but when the choice has to be made between not having a genetic test and having potentially devastating surgeries like mastectomies and oophorectomies (removal of the ovaries), genetic testing helps patients make more informed decisions. Guidelines are also in place as to when to genetically test a woman for these certain gene mutations.

To do so is a prudent treatment option and should be utilized in order to achieve the best possible end for the patient. With there being only a very small difference between the test and the no-test group, it is extremely cost effective for insurance companies to cover genetic testing for breast and ovarian cancer for certain at-risk groups. Again, by having the testing performed, ineffective treatments can be avoided and the patient is not subjected to unnecessary pain or side effects. Genetic testing can also be used to determine the efficacy of drugs.

Fleeman and Dickson noted in their article that genetic testing can determine how a patient will respond to certain drugs (2009). This is called pharmacogenetic testing. This is a highly efficacious way of determining if a person is a fast or a slow metabolizer. While there is not yet a way to determine clinical validity across the board, there are cases where clinical validity has been established. In this case, as in the previously stated cases, genetic testing does come through as a bastion of pharmacological truth.

It is a way to read a genetic code to determine the best pharmacological treatment for the patient. Genetic testing is all about making the best treatment choices for the patient. It is also all about determining the patient’s genetic predisposition for a certain disease. In both cases, knowledge is power. Doctors can use genetic information in order to make informed treatment options for a patient, while patients can use genetic information in order to make informed healthcare decisions. Treatment choices are probably the most important aspect of genetic testing.

In the American Cancer Society study, insurance payments are at issue, as well as the overall efficacy of the treatments available for colorectal cancer. With Fleeman and Dickman, there is only the consideration for the efficacy of the treatment. Efficacy of the treatment in this case involves the metabolization of the drugs to avoid unwanted side effects. Doctors need to have this test data available so they can make the best possible choices. In cases of cancer or other catastrophic illnesses, time wasted is time lost. Cancer can gain a lot of ground in the time a doctor is pursuing non-efficacious treatments.

With the advent of genetic testing, there should be no reason why it should not be used on a regular basis to determine the best and most efficacious treatment for the patient’s disease. In the cases cited by Fleeman and Dickson, pharmacogenetics can help doctors make the best choices for their patients in terms of other treatment options as well. Granted, pharmacogenetics has a long way to come, but its efficacy has been proven in a number of cases. The future of genetic testing could eventually mean routine genetic testing to assure the efficacy of everything from painkillers to antibiotics.

It can help doctors make correct dosage decisions for the betterment of the patient. It can also be used to assure that the correct medication is being used for the correct disease. Genetic testing has shown us that every tumor or mass is different and responds differently to treatment. Genetic testing can help pinpoint the best treatment choice for a particular person to avoid them going through any unnecessary treatment effects. Patients can also use genetic testing to make informed decisions about their health and their own treatment options.

Genetic testing has formed links between various types of cancers. Genetic testing can help a person make an informed decision regarding their medical future. For example, a woman that finds that she is positive for the breast cancer gene, plus has a family history of the disease, can choose a preventative treatment or can choose to have a mastectomy so she will not contract the disease. While having a mastectomy may seem extreme, women may prefer to make the decision when they don’t have the stress of breast cancer weighing on them. The same holds for oophorectomies as well.

This is a surgery to remove a woman’s ovaries. A woman who carries the ovarian cancer gene may decide to have an oophorectomy in order to avoid getting what is called “the silent killer”. Men and women both can benefit from the genetic markers found for colorectal and pancreatic cancer. They can use these markers to make informed decisions regarding preventative treatment options that may be available to them. There are choices such as drugs or surgery that are choices that a patient can make in order to assure their own personal health.

Genetic testing is the best possible choice that a patient and a doctor can make. It is accurate, efficacious and helps to open up more treatment options to both the patient and the doctor. To not test is to be foolish in the face of research that states that it is cost effective and medically effective. We also need to look at the drug options available and match genetic information to the drugs to assure maximum efficacy. Patients deserve the best from their doctors and doctors owe it to their patients to provide them with the best drugs for their condition.

We need to use genetic testing for everything, as there is a use for it in everyday life. We can also find new links between drugs and diseases and even between diseases. Genetic testing is the wave of the future. It is now, and it is here to stay, and we need to use it to maximum efficiency to assure maximum patient health and the ability to provide the doctor with maximum health information. Works Cited Fleeman N, Dickson R. 2009. Providing patients with information on pharmocogentic testing. Nursing Standard 23(21):46-8.

Holland ML, Huston A, Noyes K. 2009. Cost-effectiveness of testing for breast cancer suceptibility genes. Value in Health 12(2):207-16. Ozanne EM, Loberg A, Hughts S, Lawrence C. 2009. Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. Breast Journal 15(2):155-62. Shi C, Hruban RH, Klein AP. 2009. Familial pancreatic cancer. Archives of Pathology & Laboratory Medicine 133(3):365-74. Szabo L. 2009 January. Genetic testing boosts efficacy in cancer care. USA Tosay; Sect Life:7(col 1).

Updated: Apr 29, 2023
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Genetic Testing Dilemma: To Test or Not to Test. (2016, Sep 28). Retrieved from

Genetic Testing Dilemma: To Test or Not to Test essay
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