Genetic testing is a scientific process in which an individual’s DNA can be screened for mutations or variations that may cause certain diseases or dysfunctions. It is my opinion that standard genetic testing for disease or the predisposition to disease is purely beneficial. Having clear answers as to whether or not a person may carry a higher risk for some diseases may in fact save their life, or the lives of their current or future children. However, over the years of development of the science, more and more controversial types of testing have developed. In this paper, the science of genetic testing will be introduced by going through a brief history, the different types of genetic ...view middle of the document...
In 1972, Richard Nixon signed the National Sickle Cell Anemia Act, the chief provisions of which were to provide funds for screening and counseling programs, information and education activities, and research. After the act was signed, a significant amount of the prior issues faded. By the 1980’s, sickle cell anemia was treatable with antibiotics and bone marrow transplants. (Lewis)
As for testing for Tay-Sachs, there were even worse results initially. Even though prenatal testing was available, the disease was so severe that no cure or treatment could be found, and all children diagnosed with Tay-Sachs died at a young age. At the time, Tay-Sachs was considered a “Jewish” disorder. And so, a group named Dor Yeshorim took matters into their own hands. “Today they test young people for several “Jewish” genetic disorders and help determine potential marital compatibility for couples, identifying carriers for the same diseases. The process is anonymous, using numbers to identify people tested, and carriers are not told what they carry. Call it eugenics or artificial selection, but the diseases have disappeared from this population” (Lewis).
Since then, genetic testing has made significant improvement, and is now quite common
in the field of science. Some tests and screens are now used regularly. Pregnant women are offered the option to screen their fetus for a higher risk of trisomy 21, or Down Syndrome. Cystic Fibrosis is also commonly screened for in pregnancy. Huntington’s disease is also testable
for families with a history of the disease, but results are said to be “chilling in its accuracy” (Lewis) because of the implications that diagnosis carries. Today, there are these and many other forms of genetic testing available for personal health and information.
Types of Genetic Testing
There are several different types, or purposes for genetic testing, a few of which will be further developed in the following paragraph. Some of these forms of testing are much more developed than others. In addition, some forms of testing are much more complicated than others in their process and what they testing for.
Diagnostic testing is testing which confirms or refutes a diagnosis based on symptoms of a genetic or chromosomal condition. Persons of every age can be tested, but not all genes or diseases can be tested. This type of test commonly detects a specific gene alteration but is often not able to determine disease severity or age of onset.
Newborn screening is a test performed just after birth to diagnose genetic diseases that areable to be treated at the earliest possible time. This is the most common type of testing in today’s age, since almost all infants are now screened. Now, all states test for PKU in infants as well as congenital hypothyroidism.
Carrier testing identifies individuals who are carriers of diseases. This means the individual has a copy of a gene mutation that becomes a genetic disorder only when paired...