Genetic Testing: The Future of Healthcare?

Nicole Dalal

In an age of rapid technological development and innovation, genetic testing is one modern biomedical advancement that has incredible potential. Patients can opt to have genetic testing for late-onset diseases, including breast and ovarian cancer, familial adenomatous polyposis, and Huntington’s disease[i]. In these cases, genetic testing can be used to identify diseases before symptoms manifest themselves through the use of direct DNA analysis, biochemical tests for gene products as enzymes and proteins, and examination of fluorescently stained chromosomes.[ii] Access to genetic testing for late-onset diseases is increasing rapidly, which raises the question: how will patients and their families deal with such potentially unsettling information?

Huntington’s disease is one such late-onset, degenerative, and fatal genetic disorder. Most individuals develop Huntington’s disease in their late 30s or 40s, and symptoms include paranoia, excessive facial movements, quick, wild, or jerking movements of other body parts, lack of motor control, disorientation, dementia, and a plethora of other adverse effects.[iii] The nerve cells of Huntington’s disease patients degenerate due to excess CAG repeats on chromosome 4, which directly correlates with the development of the disease at an earlier age[iv]. While there is currently no cure for Huntington’s disease, treatment options mitigate the negative symptoms of the disease rather than preventing the disease in the first place. Upon diagnosis, families must deal with not only the degenerative symptoms, but also the frightening idea that children may inherit the harmful excessive CAG repeats.

Kristen Powers, Stanford Class of 2016, has had an experience with genetic testing that has irrevocably changed her life. After Powers’ mother passed away due to Huntington’s disease when Powers was 17, she was offered the opportunity to be genetically tested at the age of 18.  After careful consideration, she decided to go through with the testing process.  Powers has also created a documentary, Twitch, which aims to document the experience of families whose children have tested positive for Huntington’s disease.

“[The documentary captures] my entire journey and decision-making process behind getting [my] test results” Powers said.  Huntington’s disease is unique because there is no cure, but through her documentary Powers’ advocates genetic testing as an option for those who are at risk for Huntington’s disease. Powers’ documentary aims to increase awareness about the process of genetic testing and shed light upon the decisions involved in genetic testing.

Many people view the diagnosis of Huntington’s disease as a “death sentence”. However, having the “information [provided by genetic testing] was more empowering than not knowing,” explained Powers.  Access to this critical information allowed her to make life altering decisions based on her tests results. Indeed, genetic testing allows individuals to take control of their diagnosis. Regardless of her results, Powers wanted to know the timeline she had to accomplish her goals, and through the creation of Twitch, she wanted to add to resources available to help others through this undoubtedly challenging process. Powers’ ultimate goal is to foster effective communication and fruitful dialogue about the disease.

“[We need] a community of young people willing to speak up about their experiences in order to break down the stigma surrounding this disease and genetic testing” Powers said. Yet despite the benefits and advantages of the information provided by genetic testing, the process of being tested comes with complications. Genetic testing can be costly, ranging from hundreds to thousands of dollars for an individual test. Additionally, genetic testing brings up the ethical concern of whether such information would have a negative effect upon individuals who could not handle the psychological stress of the impending disease. Indeed, genetic testing informs individuals prematurely of the possibility of having a shortened lifespan, information to which individuals may respond unpredictably.

As the healthcare system incorporates technology to a greater extent, patients have gained access to their health information. However, it is still unclear whether increased knowledge causes more benefit or harm to the patients in the long term. Though testing for diseases with no known cure, such as Huntington’s disease may bring more uncertainties about the future, other late-onset diseases, such as breast or ovarian cancer, can be prevented or delayed with appropriate measures that are available with an early diagnosis.

Providing proper guidance and counseling may decrease the potential harm caused by genetic information. With the support of physicians, genetic counselors, and public health officials, this information will likely accrue a greater benefit than harm for with late-onset diseases. Careful assessment of a patient’s ability to react in a constructive and responsible manner to test results has become more critical than ever. However, Kristin Powers’s documentary, Twitch, highlights that when the decision is well thought out and careful, genetic testing can become a highly beneficial process.



[i] Web MD. Genetic Counseling. Available at: http://www.webmd.com/a-to-z-guides/genetics-genetic-counseling. Accessed on March 1, 2013.

[ii] DOE Microbial Genomics. Available at: http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtml. Gene Testing. (2010, September 17). Accessed on March 1, 2013

[iii]National Institutes of Health. Huntington’s disease. Accessed at: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001775/. Accessed on March 1, 2013.

[iv] National Institutes of Health. Huntington’s disease. Accessed at: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001775/. Accessed on March 1, 2013.