In 1872, George Huntington wrote about a disease that he and his family was suffering from. Symptoms included slurred speech, involuntary or slowed movement, and compulsive emotions and feelings. Today, it is known that this disease is a genetic disease affecting the brain, caused by the mutation of chromosome number 4, in which the codon CAG repeats over 40 times, contrary to the normal 10 to 26 times. Though it is unknown as to why this repetition causes such effect on the brain, scientists have devised methods in which it would be possible for individuals to test for the disease through genetic screening.
Though genetic screening could have its side effects, it is currently the best way to take preventive measures for individuals carrying the mutation to not pass on to future generations as well as provide other personal aspects that would benefit the individual the most. Huntington’s disease is a familial disease that is passed down through generations. Out of all cases of HD, 97% of the disease is contracted from parents, and only the small 3% show independent mutation. Moreover, HD is inherited as a dominant trait, meaning a single copy of the mutation is enough to affect offspring.
It is therefore vital that couples on high risk of carrying the disease take preventive measures to ascertain the existence of the mutation in their genes for future generations to not pass down the disease further. Methods of genetic screening is largely divided into three – prenatal, predictive and carrier testing. Prenatal testing is done on the fetus in the early stages of pregnancy, whereas predictive and carrier testing is performed on any individual at high risk for having HD. Prenatal testing is usually not recommended for most pregnant mothers, as it carries a high risk of damaging the fetus.
Predictive and carrier testing, on the other hand, are harmless methods that determine the existence of the mutation, and thus shows its effectiveness. If couples and individuals at high risk of being carriers of the disease were to be screened for the disease, they could take steps to prepare for when symptoms begin showing or reduce the chances of the disease being passed onto further generations. Either way, it is beneficial for both the individual and the future of the individual’s family.
Furthermore, screening for the disease could help provide information in future medical studies. Huntington’s disease is not known very much in terms of how the CAG repetition is the exact cause for the symptoms, as well as what sorts of treatments can be used to counter the mutation. Thus, if genetic mutation is conducted, scientists can collect more information on the disease. If through this an effective treatment was found, it would not only be a breakthrough in genetic sciences but also be a great relief for patients suffering from or at high risk of the disease.
There are indeed reasons as to why individuals should be concerned for the ethics of genetic screening. In the case of prenatal testing, as mentioned before, the fetus can be severely damaged by the testing process, to the extent of killing a healthy fetus. Furthermore, positive results of the testing has shown the increase of depression and stress in individuals, mainly caused by the knowledge that the disease would show symptoms later in the individual’s life.
However, such reasons are not enough to counter the numerous benefits that come with the disease. For one, genetic screening will remain as a choice for an individual—nothing will be forced onto those that are not willing to test for the disease. Second, if the test does show a positive result, the individual can at least take preventive measures such as therapy to lessen the stress that comes with the contraction of the disease as much as possible.
In the end, genetic screening can only be beneficial for individuals. There are various benefits that come with genetic screening. While it is true that some risks follow, genetic screening for Huntington’s disease will only bring about positive conclusions in the end. Thus, ethical problems concerning Huntington’s disease can be stated as temporary and short-term negativities, and in the long run, everyone benefits from screening for the disease.