Genetic testing is basically the analysis of an individual’s DNA to determine if they are susceptible to certain diseases or are carriers which can lead to their offspring suffering from a genetic disorder. Genetic testing is able to do so by indicating if there are any abnormalities or mutations in a person’s chromosomes, genes, or proteins. According to the Genetics Home Reference which is a service of the U.S. National Library of Medicine, “more than 1,000 genetic tests are currently in use, and more are being developed (Genetics Home Reference, 2014).”
There are three different categories of genetic testing which include gene tests, chromosomal tests, and biochemical tests. Gene tests, or molecular genetic tests, pinpoint any deviations or mutations in individual genes or short lengths of DNA and RNA that can lead to a genetic disorder. Chromosomal tests check for a genetic disorder by checking for larger genetic variations in whole chromosomes and long lengths of DNA. Biochemical tests focus more on proteins and enzyme activity (FAQ About Genetic Testing, 2014).
Different genetic testing techniques are available to both adults and embryos. Testing done on adults usually occurs in order to find out whether or not they are a carrier and can pass a genetic disorder onto their offspring. Conversely, testing executed on embryos reveals if they are a victim of a particular genetic disease.
The type of genetic testing that adults undergo in order to determine if they are carriers is called preconception or carrier testing. According to NYU Langone Medical Center “There are two ways that carrier testing is done. One way is by direct analysis of the genes. The genes are extracted from blood cells. The genes are tested for mutations. The second way is to test for the amount or activity of a gene product that normally prevents disease. Affected individuals have little, if any, of the gene product. Carriers have a 50% reduction in the gene product (NYU Langone, 2013).”
Embryo testing, or preimplantation genetic diagnosis, is a type of genetic testing that occurs before a pregnancy even starts. It is done through in vitro fertilization which will result in an embryo that divides into eight cells. One or two of the cells are then extracted from the embryo and tested for any deformities or abnormalities in its genetic makeup. This type of testing is usually done after it is determined that the parents are carriers for a genetic disease. Only normal genes are implanted into the mother.
Other common techniques for genetic testing include newborn screening, diagnostic testing, predictive testing, presymptomatic testing, and prenatal testing.
The issue with the accuracy of genetic testing is that companies, like the ones shown in our in class video, only analyze parts of an individual’s genome sequence. This is called genotyping. Therefore, each company was getting different results. This information is more of a probability that we will be...