Genetic Testing and Newborn Screening

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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 ... 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

2. (2012, 02). Phenylketonuria. Your Guide to Understanding Genetic Conditions. Retrieved 04, 2014, from


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