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Genetic Testing: Phenylketonuria (PKU)

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In the 20th century, genetic testing was initiated to determine whether an individual had a genetic disorder or not. Newborns were tested for a condition known Phenylketonuria (PKU). PKU is a condition where by a buildup of an amino acid known as phenylalanine in a baby’s body leads to intellectual impairment and possible brain damage. This amino acid is built up when a baby lacks an enzyme that converts phenylalanine into another amino acid called tyrosine. The screening tool used is known as the Guthrie test whereby blood is collected from the heel of a new born and tested for the presence of PKU. If the PKU content is above 1-2mg/dl, then the baby has PKU. Early detection of this condition has helped to preserve the brain function of the child. Also, the child is …show more content…

Furthermore, his family members undergo genetic testing to determine if their genes were also mutated. This genetic tests helps to provide affected individuals with the opportunity of reducing their risks of developing different types of cancers caused by LS. Since, they are much aware of their risk status, they utilize early cancer screening tests and other risk reduction strategies. Public health function known as assurance is manifested here, such that individuals who tested positive to LS genetic test are linked to personal health services. Likewise, the public health goal of informing the public about health issues and prevention strategies is achieved. Future application of genetic testing could be seen in the improvement of health outcomes in mental health. Genetic testing could be used to determine the appropriate drug for any mental health condition, for example depression, specific to an individual. Public health goal of research for new insights and innovative solutions, in this case, innovative solutions to mental health treatment and management will be

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