After experiencing the death of two grandparents to cancer and having my remaining grandparent in remission from a colon cancer tumor, I have gained a greater interest in the medical science that is being performed to try to cure and prevent future suffering with different disorders. Having the ability to find out a persons chance of acquiring a certain type of a disease could be useful in their future plans in life. One of the most modern applications that relates to biotechnology in the medical field is gene testing.
Gene testing is a complicated process in which DNA is examined in order to test for genetic disorders. Gene testing is now being used for the examination and discovery of genes that could possibly lead to disorders or cancers. Additional uses of this technology are cancer risk estimation, identity testing, newborn screening, and testing for adult- onset disorders. Scientists are able to perform various tests on DNA by the collection of anything on a person’s body such as blood or any tissue. With this collection, various tests can be performed to isolate specific information that is important to the health of the individual. The basic process of gene testing is a comparison of a patient’s genome to a control genome that would be considered normal for that person (“Gene Testing”). With the completion of the Human Genome Project; which sequenced the complete set of human genes in an individual, scientists can locate mutations (“Understanding Cancer Series: Gene Testing”). A common misconception of gene testing is that it finds diseases, when it really only find the mutations that can possibly lead to disease. For these reasons gene testing on humans should be further funded and researched because how it can increase a person’s quality of life.
There have been many viewpoints expressed on the subject of genetic testing since its creation because of how it analyzes a person’s genetic information. Skeptics of genetic testing have used the Alzheimer's disease genetic test to try to disprove the concept of genetic testing because of how it gives a patient a percentage of having that disease. The point being made is that even with the possibility of potentially having Alzheimer's, there will be other factors; such as the environment that will also affect the onset of this disease. In addition, skeptics of genetic testing believe that not having complete certainty of actually acquiring a certain disease would also lead to increased anxiety, when there could be a possibility that the person may never actually acquire it (“Gene Testing”).
However, gene testing can be very beneficial for people who want to find out what their chances are of acquiring a specific disease. The gene tests at this point in time may not offer 100% percent certainty if a person will acquire the disease, but having this information could help with a person future plans and lifestyle (“Gene Testing”). People with genetic disorders in their family history can be relieved with a positive or a negative result because it could help a person make decisions, for how to live their life (“Understanding Cancer Series: Gene Testing”). With a positive test, a person could then plan on having frequent doctors appointment early on, and with a negative test, a person would have less uncertainty and or anxiety and not have to check with a doctor as often (“Understanding Cancer Series: Gene Testing”). Having knowledge on whether or not a person should have additional doctors appointments could be a major impact financially, especially if the person’s insurance company doesn’t cover the visit. There are approximately 900 genetic tests available through scientific laboratories and other companies (“Gene Testing”). Examples of these include tests for Sickle cell disease, Cystic fibrosis, Hereditary nonpolyposis colon cancer, and Amyotrophic lateral sclerosis, also known as Lou Gehrig's Disease (“Gene Testing”). Diseases such as these have had identifiable mutations found to be linked with acquiring them through projects such as the Human Genome Project (“Gene Testing”).
One of the most successful gene tests that are being performed is the Tay-Sachs test. “Now 30 years old, carrier screening for Tay-Sachs is the longest running, population based program designed to prevent a lethal disease” (Buckles). “Tay-Sachs is caused by the absence of a digestive enzyme called hexosaminidase A (hex A), which breaks down lipids found in brain cells” (Buckles). This disease can be found every type of person, but is most found in people Jewish people. Without having a hex A enzyme the body central nervous system of the person will slowly be destroyed. The test is used to determine if parents have the potential to have a child that would express the mutated A hex gene, which would be defective. With a positive test, couples who both are carriers have a 25% chance of having a child with Tays-Sachs. Gene testing for Tay-Sachs first started in 1970, and before then physicians diagnosed more than 60 cases of the disease per year. Since testing began there are now less than 5 cases a year. Telling people if they are carriers of Tay-Sachs gives the couple the ability to plan there future. It can give them option such as adoption, which has many good consequences, because they are not even taking a chance of reintroducing a child that would eventually die or carry on the disease, and take an initiative and help someone who is already alive and in need of a family (Buckles).
There have been many breakthroughs in research of gene tests many of which are making scientist very excited because results from them have the ability to save lives. Research shown in the August 10th issue of the New England Journal of Medicine address genetic tests which may help in predicting lung cancer outcomes. Research done by Dr. Anil Potti, and assistant Professor at Duke Institute for Genome Sciences, and Dr. Len Horovitz, a pulmonary specialist at Lenox Hill Hospital in New York, are enthused by the results they found on tests with patients with early stage lung cancer. The experiment tested the risk of lung cancer reoccurring later in life. The test, called “Lung Metagene Predictor,” tested 134 patients for risk of reoccurrence of lung cancer. The results of the test were 90% percent accurate. With a test that could provide 90% accuracy for the relapse of a disease doctors when diagnosing a patient with first stage lung cancer can decide if chemotherapy, which is usually used for later stages of the cancer, should be used earlier instead of later. This can be very important being that 30 to 35 percent of diagnosed and treated patients with early stage lung do end up with cancer again die. Potti now say that a larger trial on over 1,200 patients is beginning and doctors and scientist hope that this test can be used in January of this upcoming year (“Gene Test Predicts Lung Cancer Outcome”).
Gene testing is a technology which can aid people in acquiring information about their potential for disease and increase their quality of life in the future. Although gene testing does not provide a 100% assurance of the onset of a disease, the more information they have, the better informed decisions they can make in regards to having children and other lifestyle choices. The potential for anxiety does not compare to the benefits this genetic knowledge could provide an individual. With this technology life is being valued for more, and can help lead people to having better lives.
Buckles, Julie. "The Sucess Story of Gene Tests." Genome News Network. 20 Aug. 2001. J. Craig Venter Institute. 16 Oct. 2006 .
"Gene Testing." Human Genome Project Information. 29 Aug. 2006. U.S. Department of Energy. 15 Oct. 2006 .
"Gene Test Predicts Lung Cancer Outcome." Medline Plus. 9 Aug. 2006. U.S. National Library of Medicine and the National Institutes of Health. 14 Oct. 2006 .
"Understanding Cancer Series: Gene Testing." National Cancer Institute. 1 Sept. 2006. U.S. National Institutes of Health. 12 Oct. 2006 .