Tay-Sachs Disease: A Genetic Analysis

Sir Francis Bacon once said: “Knowledge is power.” In our present day society, we are fortunate to have developed resources that greatly improve the quality of our lives. For example, technology has advanced to the point where we are able to perform genetic assays. These tests detect changes in chromosomes, genes, and proteins to help identify the likelihood of a child being born with different genetic conditions. Personally, I believe this test proves to be highly beneficial because it educates couples who plan to have a family on whether or not there are genetic risks that could ultimately have a negative effect on their future children. For example, here in Eastern Quebec a disease that is quite prevalent is Tay-Sachs disease. This
It is a neurodegenerative disorder affecting the central nervous system. Signs of the disease often appear when the babies are within the three to six month old range and symptoms include: deafness, progressive blindness, delayed social development, intellectual disability, seizures, increased startle response, spasticity, and paralysis. The progression of the disease is rapid and unfortunately children usually do not live past their fourth or fifth birthday. One source of detection of the disease is a red spot on the macula which is located near the center of the retina of the eye. Sadly, there is currently no known treatment or cure for the disease. Children may receive palliative care where they could be given pain killers to manage the pain, anti-epileptics to control seizures, feeding tubes, and respiratory care until
Genetic tests are a viable method of detecting specific mutations or changes in the gene that codes for Hex-A; whereas, blood tests measures the level of Hex-A in a person's blood. Blood tests occur postnatally and have a 98 percent accuracy of detecting the disease in individuals; whereas genetic tests can be performed during the family planning stages and have a 50 to 60 percent accuracy of detecting mutations in carriers. Genetic tests are generally not too expensive and ensures couples are aware of possible conditions their children could develop. It allows them to decide if they should reproduce or seek out other options like adoption. However, there are some downfalls associated with these tests. The test accuracy is limited because it is impossible to screen for all the mutations that could cause the onset of this disease. For example, JScreen, a genetic assay company, claims a negative test result for Tay-Sachs disease “reduces one’s likelihood of being a carrier; however, it does not eliminate it.” This results in uncertainty in whether or not someone has a mutation for the disease because not all of the possible mutations were screened and this person could be given an inaccurate