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Genetic Testing Save Life

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Testing to Save a Life Genomic testing is a way of studying an individual's genes for complications that could lead to health problems like diseases or cancers. Tests became more popular in the 1990’s when they were available directly to the customer rather than from a health professional (Goldsmith). Testing is used for more than just screening for potential complications. They can also be used to help determine why pre diagnosed diseases occurred and determine the best treatment option to pursue. The testing can help individuals become educated about their own body while determining solutions to health issues. Genomic testing has very few physical health risks. The main struggles people face are financial, emotional, or social stress. …show more content…
Genetic tests are not only used for diagnostic testing, but also newborn screening, carrier testing, prenatal testing, preimplantation testing, predictive and presymptomatic testing, and forensic testing. Each of these types of genetic testing has a unique way of looking at human chromosomes to identify the needed information. Newborn screening is used to identify potential issues when a baby is born. This is already used in nearly every state in the United States to test for phenylketonuria and hypothyroidism. Carrier testing is used to see if a person is carrying a gene that could lead to a gene mutation. This provides valuable information for parents wishing to have a child because they are able to test their genes to see if they both had mutated genes and what the possible combinations could lead to. Prenatal testing is used to test genes in a fetus before birth, identifying the changes for an infant to have a chromosomal disorder. Preimplantation testing is used to help lower the chances of having a child with health issues. Predictive and presymptomatic testing is used to help find a disorder that usually occurs later in life. This is beneficial to people who have a family history of chromosomal disorders. With this testing, doctors can see if individuals are more likely to get a disorder than the everyday person, allowing them to start thinking about medical options. …show more content…
A medical geneticist, primary care doctor, specialist, or nurse practitioner can order the test. It is a simple test that only requires a sample of the patient's blood, hair, or skin. The sample can be harvested in different ways, but a popular technique is a buccal smear. This is performed by inserting a cotton swab into the mouth to collect tissue from the inside cheek. The sample is then sent to a laboratory where scientists analyze it for changes in chromosomes, proteins, or DNA. From here, the laboratory can then send the results to a patient's doctor or genetic counselor. Another option is to get the results straight from the lab if the person is using direct-to-consumer genetic testing. It is vital that patients know the procedure of the test before proceeding with the test (What are the types”).
With the expansion of genomic testing, many clinically validated genetic tests are becoming more popular. Due to the developing technology and the lowering cost, it is predicted that clinical laboratories will start using more than just one gene tester and turn to multigene panels (Faruki). This will speed up the result time as well as enhance the information the tests

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