Benefits of Genetic Testing

Posted by alvina on February 28th, 2019

In 2009, my life was changed when I was suddenly induced to have my youngest son. It was not much of a surprise because my ob./gyn had discussed the possibility of this as certain organs were not forming as expected. Following his birth, the first several years of his life was full of endless tests as more and more issues presented themselves. We discovered he was born with a brain malformation and several other abnormalities. As a result, his doctor recommended genetic medical testing be performed to rule out possible genetic disorders. His father and I were tested as well to see if his abnormalities were inherited or randomly occurring. His results came back that the abnormalities were randomly occurring and at that time not related to any known genetic disorder. However, the tests were able to list a wide array of illnesses that all of us were predisposed to. This was my introduction to genetic testing and made me think how can this information be beneficial?

Genetic testing is a medical test that is used to identify changes in chromosomes, genes, or proteins of DNA molecules. Genetic testing begins when DNA is extracted via samples from hair, saliva, body fluids, skin and tissue. DNA tests performed break down these substances to the chromosome level to determine abnormalities that are present. Aside from identification of genetic abnormalities these tests can be used to diagnose thousands of currently existing and future conditions

Newborn screenings given directly following birth are types of DNA health tests. Certain conditions present at birth can be detrimental to the health of the newborn resulting in long lasting disorders. Currently all US hospitals test for phenylketonuria and hypothyroidism. Diagnostic DNA testing is utilized to diagnose or exclude chromosomal abnormalities and genetic disorders. These tests are performed following physical exams and x-rays as a means of confirmation of proposed disorders. Results often give physicians guidance on treatment plans. Carrier testing is similar to diagnostic testing as it can be used to determine hereditary predispositions to abnormalities and disorders. In cases such as my son were a disorder is suspected based offmultiple factors such as race, delays and gender carrier tests can show if the symptoms share a familial relation. This type of testing can also help with family planning decisions if both parents are tested uncovering certain genetic markers. Predictive also known as presumptive testing identifies illnesses and disorders that may occur at a later stage in life. This can be done when direct family members have an illness such as breast cancer to determine the likelihood of you contracting the same illness. This can give patients the opportunity to make life changes or take precautionary steps to avoid development of conditions. Forensic testing is done by law enforcement to determine DNA markers related to crime scenes. This can be used to exclude subjects or serve as confirmation of guilt.

Clinical tests performed in hospitals are subject to regulation by the Food and Drug Administration (FDA). The FDA puts in place standards to ensure the validity of testing information as well as ensuring that results are useful to patients.

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