Genetic Testing and The Diagnosis of Genetic Diseases...

Genetic testing is used to determine the risk of a patient or patient’s offspring developing genetic diseases. This is done with DNA sequencing in adults and preimplantation genetic diagnosis (PDG) on embryos. These methods of genetic testing are effective means of determining the likelihood of developing diseases such as Huntington’s disease, a disease resulting from trinucleotide repeat on chromosome 4p16.3 that causes uncontrollable muscle movement and decrease in cognitive function. However, they only determine probability, which isn’t an entirely reliable means of knowing whether or not symptoms will arise. It is patients’ right to opt for genetic testing on their own DNA, although they are accepting a great risk by doing so.†¦show more content†¦These strands are separated by length using electrophoresis and detected automatically by computers to be analyzed (Lyons, 2004). Another method of genetic testing is extracting one cell from an 8-cell embryo and using preimplantation genetic diagnosis (PDG) to determine the presence of disorder-causing genes (Holt, 2012). These methods of genetic testing are accurate, as long as the genetic origin of the tested disease is known (Mahdieh Rabbani, 2013), but their reliability is harmed by the fact that the results determine probability of diseases occurring (Holt, 2012). Even though a test accurately determines the presence of a given mutation, that mutation may only indicate a patient’s predisposition to developing symptoms. Since other genes or environmental factors may play a part in the tested disease, the results of testing aren’t entirely reliable for a conclusion of whether or not a patient will develop the disease. One disease that can be tested for using these methods is Huntington’s disease, which causes involuntary spasms and contractions and a decline of coordination and cognitive ability (Online Mendelian Inheritance in Man [OMIM], 2014). These symptoms occur as a result of a trinucleotide repeat in the huntingtin gene on chromosome 4p16.3, also known as the HTT gene. The disease is autosomal dominant, with the completeness of itsShow MoreRelatedCracking Your Genetic Code: A Review of Genetic Testing1538 Words   |  7 PagesYour Genetic Code: A Review of Genetic Testing In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease to geneticRead More Embryo Diagnosis1699 Words   |  7 PagesEmbryo Diagnosis Karen and Roger have decided to start a family. Again. It has been nearly six years since their first and only child, Katie, was born, and just over two years since she died. In her four years of life, Katie was plagued with the fatal Tay-sachs disease. Because the enzyme needed to rid her brain of fatty materials was absent at birth, she lost her sight when she was only eighteen months old. Her ability to operate the left side of her body was gone several months later. Read MoreShould Scientists Be Allowed to Perform DNA Tests on Selecting Human Embryos?1206 Words   |  5 Pagesextracting several eggs from a woman’s body and then fertilizing them in a laboratory. A couple days after fertilization, genetic tests can be applied on a cell that is removed from the embryo. The DNA testing process is called preimplantation genetic diagnosis (PGD) and usually triggers the diagnosis of the embryos with genetic abnormalities but can also identify other genetic traits of the future progenitor such as sex, athletic ability, special talent, and certain physical appearance. The researchersRead MoreGenetic Testing or Genetic Screening1514 Words   |  7 PagesGenetic testing, also known as screening, is a rapidly advancing new scientific field that can potentially revolutionize not only the world of medicine, but many aspects of our lives. Genetic screening is the sequencing of human DNA in order to discover genetic differences, anomalies, or mutations that may prove pathological. As genetic screening becomes more advanced and easily accessible, it presents society with difficult questions that must be asked about the boundaries of science and to whatRead MoreGenetic Privacy And The Human Genome Project1480 Words   |  6 PagesWith bounding advances in the field of genetics, genetic privacy has sparked a controversy. In the 1980s, the Human Genome Project was formulated to sequence the entirety of the human genome. The first draft of this project was published in Nature in February, 2001, about 10 percent short of completion (National Institutes of He alth [NIH], 2015). Originally, scientists had hypothesized that there was anywhere from 50,000 to 140,000 genes, but after the release of this first draft and the later completionRead MoreThe Tay Sachs Disease: A Case Study1317 Words   |  5 PagesStudent School Interdisciplinary Team The members will be a physician, a geneticist, an ethicist, a lawyer and a nurse. The physician, who is a pediatrician, makes the diagnosis of Tay Sachs. The geneticist, another specialist, provides more specific and applicable information on Tay-Sachs, such as causes and risks, prevention, diagnosis and treatment. These two specialists formulate a plan of care, which a nurse will implement. The ethicist informs them about accepted moral values and the proper humanRead MoreArgumentative +/- Pre-Implantation Genetic Diagnosis1001 Words   |  5 Pagesthat you re having trouble conceiving because of a genetic abnormality you never even knew you had. Your mind races and your heart sinks. How is this possible? You never thought you would have to deal with not being able to have a baby one day. There are several options you have to try and conceive without passing on the genetic abnormalityÂ… the doctor continues to explain, but the one I would recommend first is Pre Implantation Gen etic Diagnosis. You and your wife finally decide on PGD, a typeRead MoreGenetic testing is a class of medical testing that recognize changes in chromosomes, gene or1300 Words   |  6 PagesGenetic testing is a class of medical testing that recognize changes in chromosomes, gene or proteins. This type of test look for abnormalities in DNA or RNA that is collected from a person’s blood, body fluids or tissues. Genetic testing scans the genes looking for large or small change that occur to gene. These changes to the genes could have missing or addition parts that could change the chemical base within the DNA strand. Abnormal genes could be the result of other mistakes like the genesRead MoreVitro Fertilisation ( Ivf ) Essay1402 Words   |  6 PagesPre-implantation genetic diagnosis (PGD) is a screening test used to determine if genetic or chromosomal disorders are present in embryos produced through in vitro fertilization (IVF). Preimplantation genetic diagnosis screens em bryos before they are transferred to the uterus so couples can make informed decisions about their next steps in the IVF process. Embryos unaffected by the genetic or chromosomal disorder can be selected for transfer to the uterus. Why is the use of pre-implantation genetic diagnosisRead MoreDiabetes Is A Rising Epidemic Essay756 Words   |  4 PagesC-peptide testing (National Institute of Diabetes and Digestive and Kidney Diseases [NIDDK], 2015). However, recent research (Oram et al., 2016) has proposed that genetic risk scoring may be effective in accurately classifying diabetes. Furthermore, proper identification would assist providers in predicting which young adults are likely to advance quickly to a state of insulin insufficiency. In this paper, we will review and discuss the research and clinical findings associated with genetic risk scoring