Genetic testing is the process of sequencing six billion letters of a human genome to possibly discover genetic differences, such as how cells carry the same genome but at the same time look and function different. Genetic testing is also the process that can give foresight into pathological diseases such as different types of cancer.
Millions of babies are tested each year in the United States by a process known as newborn screening. Newborn screening can detect disorders that will occur later in life and try to treat them earlier in life. Disorders like phenylketonuria a genetic disorder that causes mental retardation in newborn babies as they get older if not treated early at birth and hypothyroidism a disorder of the thyroid gland. Phenylketonuria is defined as an inherited disorder that increases the levels of a substance called phenylalanine in the blood. When it comes to any protein phenylalanine is a basic building block of all protein so that would mean that it would be found in all types of meats as well in vegetables and even milk.1
The signs and symptoms of PKU always very from mild to severe most of the time the severe case is found in infants who the infant appears perfectly normal until four to eight months or more down the road. With treatment being ignored the patient would show signs and symptoms of seizures, delayed development, behavioral problems, and psychiatric disorders these are the most sign and symptoms that are seen. Patients that go untreated will develop a musty or mouse like odor which is noted as a side effect of phenylalanine. Children with PKU show lighter skin and hair than those children who are not affected with PKU. A mutation found in the PAH gene that leads to formation of a nonfunctional ph...
... middle of paper ...
...to get his entire genome mapped out and was prescribed a medicine that help him to live fifteen more months. The risk of genetic testing is the patient finds out when they are going to die and it is nothing that he or she can do. Taking into account a person who finds out that they will have pancreatic cancer, most of the time people with pancreatic cancer die.
Works Cited
(2013, 04). What are the types of genetic tests?. Your Guide to Understanding Genetic Conditions. Retrieved 04, 2014, from http://ghr.nlm.nih.gov/handbook/testing/uses
2. (2012, 02). Phenylketonuria. Your Guide to Understanding Genetic Conditions. Retrieved 04, 2014, from http://ghr.nlm.nih.gov/condition/phenylketonuria
3. McKusick, V. (1996, 06). PAH DEFICIENCY OLIGOPHRENIA PHENYLPYRUVICA FOLLING DISEASE. PHENYLKETONURIA; PKU. Retrieved 04, 2014, from http://omim.org/entry/261600
Tests to diagnose Cushing's syndrome and Cushing's disease. (n.d.). Cushing's Disease Tests. Retrieved May 18, 2014, from http://www.aboutcushings.com/diagnosing-cushings-disease/testing-methods.jsp
Human Genetic Screening and Discrimination in Gattaca. Works Cited Missing A few months ago I watched a movie called Gattaca, which dealt with the issue of genetic discrimination in the near future. In the movie, people were separated into two classes, those that were genetically screened and positively altered before birth and the class that was unaltered. The separate classes had stark divisions, from what jobs that you were able to apply for to where you could eat. Security was aimed at keeping unaltered people away from the enhanced people.
What is Myotonic Dystrophy?. Genetics Home Reference. November 2006. US National Library of Medicine. February 9, 2009. < http://ghr.nlm.nih.gov/condition=myotonicdystrophy>.
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 genetic testing, and the pros and cons of genetic testing.
Lesch Nyhan is associated with an almost complete absence of the enzyme HGPRTase (hypoxanthene guanine phosphoribosil transferase). This is the enzyme that recycles hypoxanthen and guanine, which are two of the genetic building blocks. When this enzyme is not present, the hypoxanthen and guanine are converted into excessive uric acid. Children around four to six months old are usually diagnosed with LND when orange, sand like uric acid crystals are observed in their diapers. These crystals cause painful urination, arthritis and kidney stones as they build up in various areas of the body.
Due to the human genome project and other genetic research, tests for mutation which cause diseases have been developed. The list of these illnesses include several types of cancer. Doctors have estimated that as many as 3,000 diseases are due to mutations in the genome. These diseases include several types of colon cancer in which three different genetic tests have been already developed. Debates have arisen on whether these tests should be used regularly or not. Questions including the patients= rights of privacy and the possibility of loss of health or life insurance have been argued over in both the media and political arena.
If two parents get tested and find out that their child could have the disease, they could choose to get an abortion, which would be abusing the benefits of genetic testing. In the Jewish testing article it says “or they may choose to end the pregnancy” (Goldschmidt). In this case, taking the life of an unborn child due to genetic testing is an example of how genetic testing can be morally unsound. Also, if a cure is found for genetic testing, the treatments can be very harsh. In the Patients in Limbo article is says “every month for the first two years of her life” (Marcus). Although a cure was found, this child had to undergo extreme treatment in order to have the chance of being cured for the condition. As just a young child, depending on the type of treatment it is, this can be too extreme for such a young patient and can deteriorate the young ones body. In this situation, although genetic testing led to results, it also led to things that can cause pain and suffering, which is not what genetic testing should be used to
First, let's consider the situations in which genetic testing would be beneficial to patients. Genetic testing for diseases that are preventable or treatable could allow individuals to alter their lifestyles so as to treat the disease or reduce their risk of developing the disease. For instance, the E2 version of the APOE gene, which is found on chromosome 19, has been linked to heart disease (Ridley, 1999). Individuals who have two copies of the E2 gene are particularly sensitive to high-fat and high-cholesterol diets. Therefore, a genetic test to determine whether a person has the high-risk version of the APOE gene could inform a person of future health risks, thereby allowing the person to change his diet to help prev...
Morris, D. T. (1993). Cost containment and reproductive autonomy: Prenatal genetic screening and the American health security act of 1993. American Journal of Law & Medicine, 20, 295-316.
The "Genetic Screening" Genetic Screening. NDSU,. Web. The Web. The Web.
After looking in to a few enzyme related human diseases. I selected "Congenital Adrenal Hyperplasia", (CAH). Congenital Adrenal Hyperplasia is said to be the most common inherited adrenal disorder in infants and children. This is caused by the lack of the enzyme that promotes the adrenal glands, a pair of walnut-sized organs above your kidneys, to produce adequate quantities of cortisol. Adrenal glands enlarge and produce more cortisol and hormones cause the body to reabsorb water and sodium, along with hormones that influence male sexual characteristics. Someone with this lacks the ability produce hormones that help regulate metabolism, the immune system, blood pressure and other basic functions of the body..
People with the less severe form of PKU aren’t required to have a low-phenylalanine diet. Regardless of the severity, phenylketonuria is a genetic condition that causes phenylalanine (essential amino acid) to build up. An essential amino acid is an amino acid that the body can’t produce; therefore, it the amino acid is only found in food. Phenylalanine is found in all proteins and uses “phenylalanine hydroxylase to convert phenylalanine into tyrosine” (Cabello J. 2014). Tyrosine is needed because it produces neurotransmitters such as epinephrine, dopamine, and norepinephrine (Cederbaum S. 2012). Phenylketonuria is caused by a deficiency of the gene that created phenylalanine hydroxylase. When there is a lack of phenylalanine hydroxylase, phenylalanine isn’t being broken down; therefore, it causes a buildup of the excess
Genetic 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 what degree we are allowed to tamper with the human genome. To better understand the potential impact of genetic screening on our society, we must examine the potential benefits in comparison to the possible negative impact it may cause. With this knowledge in hand, we can examine what the future holds for this field of study and the best possible direction to take.
(2) Even people that don 't have any disease could be more prepare, and prevent it from developing in the future by being more aware thanks to the genetic test provided. Genetic screening is another valuable technology that could help a parent keep track of their baby 's health by examining their chromosomes. Genetic testing and screening could impact the life all patients in a positive way, therefore the opposing side should be grateful, and take advantage of this opportunities provided. For example, a person goes to genetically test themselves in a clinic, and they come to find out that they could potentially develop heart problems in the future. Now they can be more aware, and prepared. They could in many different ways like changing their diet or exercising more so they could better protect their heart, and decrease the chances of having the heart problems, like they where presented in the genetic test. What if the person didn 't know they had a chance to have problems? and start eating unhealthy foods that could likely speed up their changes of developing a heart disease. My point is that the same thing goes to those parent who want to get a update of their unborn child 's health. Many healthy mother don 't really expect that their pregnancy will bring some implications, but in
The evolution of studying and documenting genetic diseases in the scientific community has been one of exponential growth, this is important because it helps communities