Stakes Too High to Decline Testing for Diseases

Nadja Zakula, Contributing Writer

In a nation with such advanced medical infrastructure, there should be no fear of entities designed to alleviate pain. However, the prospect of taking tests for one’s predisposed illnesses faces resistance due to the possibility of their distressing results. Huntington’s disease is one of many diseases which has predictive testing available for those who are inclined to inherit the condition. Since it is an incurable disease, many find there are no preventative benefits to taking the test for Huntington’s. However, current research on inhibitory proteins that prevent the initial development of Huntington’s may hold the key to human treatments, or even a cure, and should therefore be enough to quell any fears. These scientific advancements, along with the emotional comfort entailed in knowing one’s fate and genetic susceptibility, should encourage one to get tested for adult-onset conditions.

Huntington’s is a disorder caused by mutations of a gene that encodes the huntingtin protein, which accumulates inside the mitochondria in brain neurons and causes the progressive degradation of nerve cells. Eventually, it results in motor dysfunction and premature death. There have been breakthroughs in Huntington’s research recently, including the discovery of a therapeutic protein which can stop the destruction of cells that Huntington’s causes. Although the cure may not be around now, there is hope for those affected.

These advancements are encouraging, but for the time being, pre-symptomatic testing is a vital resource for those at risk of developing HD. Science will always be coming up with innovative techniques to battle prevalent illnesses, like the newfound protein, and a cure for Huntington’s is feasible. It is not impossible that a drug could be produced in our generation to completely block the communication of the mutated proteins in the brain, rendering the disease and other neurological ailments completely extinct.

Predictive testing, in addition to scientific novelties, should be encouraged to confront Huntington’s and discuss possible treatments. Any individual with a parent possessing the mutation has a 50 percent likelihood of inheriting Huntington’s — refusing a test is the equivalent of betting one’s life on the flip of a coin. And this is still just one of many conditions, from cancer to Alzheimer’s, which millions of Americans can get tested for to receive an early diagnosis and develop an appropriate course of action. Whether the result is positive or negative, those tested can obtain genetic counseling, screenings and provide themselves and their families time to process. Even a slight increase in the chance of saving their life should attract people to predictive testing. Combined with the guaranteed reduction in stress, there is no contest — get tested.


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Email Nadja Zakula-Kostadinova at [email protected]



  1. I agree with your arguments here, and would like to add that there are at least three gene therapy programs under testing right now in which the Huntington gene is either turned down or off (look for Ionis, Voyageur, and Uniqure), and I suspect there are dozens of Crispr programs being developed for this as it’s an ideal monogenic target. I am thus fairly confident we will see a real treatment — maybe even cure — within the next ten years. This means that it really makes sense for people to get tested so that they can get treated as soon as possible if they have the HD mutation.

    On a related note, right now it’s not easy to get tested — the protocols for multiple counseling meetings, etc. are burdensome and expensive. That needs to change — and that’s something that could be changed quickly.


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