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Genetic testing
Genetic testing biology
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Genetic testing is a voluntary type of medical test used to identify changes in chromosomes, genes, or proteins. This type of medical test checks for alterations in an individual's genes or changes in levels of gene products, proteins. Genetic testing could also be used to look for structure of certain proteins, and for levels of RNA that play a role in certain conditions. The purpose of the test is to indentify genetic problems or possible risk for developing genetic disease. What could genetic testing be used to identify? Molecular genetic tests (or gene tests) are designed to use single genes or short factions of DNA in order to identify changes or mutations that lead or may lead to a genetic disorder. Zooming out a little from the molecular level, a chromosomal genetic test is used to analyze whole chromosomes or long fragments of DNA, to check if there are big genetic changes, such as an extra copy of a chromosome. In case of studying gene products, the biochemical genetic test is done to study the amount of protein or activity level of a certain proteins that is known to be important in a genetic disorder.
Genetic testing may be used for many purposes. A reason for genetic testing is diagnostic testing, which is used to identify or rule out a specific genetic or chromosomal condition. This is used mainly with the purpose to confirm a diagnosis when a genetic condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed at any time in the lifespan, including before birth. Similar in purpose to the diagnostic testing is the carrier testing, mainly used to identify if a person is heterozygous for a mutation. This type of testing would be best fit for individuals who have a family history o...
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... Home Reference. Retrieved from http://ghr.nlm.nih.gov/gene/F8
Genetics Home Reference (2014, April 28). How can consumers be sure a genetic test is valid and useful? - Genetics Home Reference. Retrieved from http://ghr.nlm.nih.gov/handbook/testing/validtest
Genetics Home Reference (2014, April 28). What are the types of genetic tests? - Genetics Home Reference. Retrieved from http://ghr.nlm.nih.gov/handbook/testing/uses
Genetics Home Reference (2014, April 28). What is genetic testing? - Genetics Home Reference. Retrieved from http://ghr.nlm.nih.gov/handbook/testing/genetictesting
National Human Genome Research Institute (2014, March 11). FAQ About Genetic Testing. Retrieved from http://www.genome.gov/19516567#al-2
OMIM (2012, September 19). Online Mendalian Inheritance in Man. Retrieved from omim.org/entry/300841?search=hemophilia&highlight=hae ophilia%20hemophilia
"Learning About Duchenne Muscular Dystrophy." Learning About Duchenne Muscular Dystrophy. National Human Genome Research Institute, 18 Apr. 2013. Web. 15 May 2014.
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
Advantages of genetic testing may be helpful in determining whether or not you have a disease or are proba...
What is Myotonic Dystrophy?. Genetics Home Reference. November 2006. US National Library of Medicine. February 9, 2009. < http://ghr.nlm.nih.gov/condition=myotonicdystrophy>.
"Preimplantation Genetic Diagnosis: What Is PGD." Preimplantation Genetic Diagnosis: What Is PGD. Genoma Excellence in Genetic Testing, 2007. Web. 01 May 2014.
What are the risks and limitations of genetic testing?. (2014, April 21). Genetics Home Reference, Retrieved from http://ghr.nlm.nih.gov/handbook/testing/riskslimitations
National Library of Medicine. (2014, April 28). What are the risks and limitations of genetic testing? Genetics Home Reference. Retrieved April 24, 2014, http://ghr.nlm.nih.gov/handbook/testing/riskslimitations
When it comes to genetic diseases and conditions, testing can be very helpful and serve a good purpose. People with diseases that are inheritable to their children are encouraged to be tested. For example, in the article about Jewish testing, it says
The Human Genome Project is the largest scientific endeavor undertaken since the Manhattan Project, and, as with the Manhattan Project, the completion of the Human Genome Project has brought to surface many moral and ethical issues concerning the use of the knowledge gained from the project. Although genetic tests for certain diseases have been available for 15 years (Ridley, 1999), the completion of the Human Genome Project will certainly lead to an exponential increase in the number of genetic tests available. Therefore, before genetic testing becomes a routine part of a visit to a doctor's office, the two main questions at the heart of the controversy surrounding genetic testing must be addressed: When should genetic testing be used? And who should have access to the results of genetic tests? As I intend to show, genetic tests should only be used for treatable diseases, and individuals should have the freedom to decide who has access to their test results.
Before we start discussing how genetic tests are developed, let us discuss how genes can trigger disease. A sound body requires the action of many proteins working together. For a protein to function properly, an intact gene must encode for that specific protein. A mutation describes a gene which has been changed. The most common type of mutation is a single change of a nucleotide of DNA. Other types of mutations include the loss or gain of a nucleotide and the disappearance or multiplication of long segments of DNA. Mutations can have three effects: beneficial, harmful, or neutral. Mutations are beneficial if the fitness of an individual is enhanced. Harmful mutations can either slightly alter a protein, where the protein may still minimally function, or they may totally disable a protein. In this instance, the outcome is not only based on how a mutation alters a protein’s function, but on how important the protein is to the body (Understanding Gene Testing).
Murphy, Samantha. "Genetic Tests Debate: Is Too Much Info Bad for Your Health?"LiveScience. TechMedia Network, 19 Dec. 2010. Web. 24 Mar. 2014.
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.
Coughlin, S. S. (2002). Future challenges for research on diagnostic tests: genetic tests and disease prevention. Journal of Epidemiology & Community Health, 56(5), 335-336. doi:10.1136/jech.56.5.335
Genetic testing has become very popular as technology has improved, and has opened many doors in the scientific community. Genetic testing first started in 1866 by a scientist known as, Gregor Mendel, when he published his work on pea plants. The rest was history after his eyes opening experiments on pea plants. However, like any other scientific discovery, it bought conflicts which caused major controversies and a large population disagreed with the concept of playing with the genetic codes of human beings. Playing God was the main argument that people argument that people had against genetics. genetic testing became one of the major conflicts conflicts to talk about, due to the fact that parents could now have the option of deciding if they
Genetic testing can help people determine why they get cancer or other diseases. Genetic testing is recommended to people who have a family history of a genetic disease, have children who are born with genetic defects, and have gone through more than one miscarriage in the past. Though these te...