The Ethical Dilemma of Inheritable Diseases: Huntington’s Disease and its Genetics

Meet Jonathan, the 50-year-old father of 25-year-old Sarah, who is diagnosed with Huntington’s Disease (HD). Jonathan is under the predicament of what abilities HD would deprive him of and of how HD could turn out to be a tragedy for his family tree. Witnessing Jonathan’s helplessness, Karen, Jonathan’s genetic counselor, is in an ethical debate whether to inform Sarah about Jonathan’s condition against his request. In my opinion, though Jonathan’s wish should be respected, more than one person’s life is at stake, which overcomes his wish. Karen should inform Sarah about Jonathan’s condition as this is a life-changing piece of information for Sarah.

HD is an inherited autosomal dominant disorder that causes certain nerve cells in the brain to deteriorate (“Huntington’s” [Mayo Clinic]). Autosomal dominant disorder means that if one of the parents has HD, the offspring has a 50% chance of inheriting it (“Huntington’s” [Medline]). If offsprings inherit the gene, they can potentially pass it to their children who also have a 50% chance of inheriting it. In this way, this disease continues to proliferate into the family tree. HD is caused by a genetic defect on chromosome 4 which causes parts of DNA, specifically a CAG codon, to repeat. (“Huntington” [Medline]). Normally, the DNA section is repeated 10 to 28 times, but for HD patients, it is repeated 36 to 120 times. As the gene is passed down through families, the number of repeats tend to get larger thus increasing a person’s chance of developing symptoms at earlier ages. In HD, jams in the cell’s control center kill brain cells, leading to loss of language, memory, movement coordination, thinking, and reasoning ability (“Huntington’s” [Medline]). Taking a blood test informs if the HD gene is present and the probability of developing the disease. Overall, HD is a life-debilitating disease, and becoming aware of the potential development of HD could make a huge difference.

If Karen supports Jonathan by not informing Sarah, Karen will preserve Jonathan’s individuality. Medical privacy directive and Karen’s duty to maintain confidentiality will be achieved. Jonathan has the right on what to inform his family and how to interact with them, in which Karen, a non-family member should not interfere. However, by not telling Sarah, Jonathan is keeping his daughter in the dark about her own future. Realistically, no parent would want to do that. Having the ability to be proactive and plan will be critical for Sarah.

Although supporting Jonathan in his wish may seem ethical but informing Sarah about her father’s medical condition brings welfare to the society. Epidemics and pandemics around the globe have been caused by many sorts of diseases. Identifying and informing the right people at the right time about the diseases they could be prone to is a vital aspect of disease control. Further, the rights of people, specifically Sarah, to be informed about her own health status must be valued as it will affect Sarah’s whole life, alongside Jonathan’s. Once Sarah learns about this issue, she will need to decide if she wants to take the blood test to know if she has the disease. An experiment conducted by Codori et al. shows that there was a consensus that knowledge of HD status is beneficial. Being aware of having the disease gives relief from uncertainty and anxiety. Based on the test results, Sarah will have to eventually decide whether she wants to pursue marriage and have children. She has a 50% chance to pass on the disease and her hypothetical condition could take a toll on her loved ones later in life as she deteriorates mentally and physically. Not only this, knowing about her presumably health condition will help Sarah take other important decisions like future financial investments, health care needs and career choices. She could set up the support structure of family and friends and join support groups in advance to gain knowledge on how to cope and manage her foreseeable health condition.

As the old saying goes, “Health is Wealth” — if one is not healthy, a lot needs to be done to even conduct the basic routine of life. Any advanced knowledge of upcoming tragedies, like HD, is a boon to help manage one’s life around it. So, Karen should apprise Sarah of the situation, after seeking appropriate medical approvals from the medical board to avoid any issues for Karen, individually, in the future. Further, Karen could present a proposal for updates to the medical privacy rules, so such situations could be dealt as a special case.

References

Codori, A M, and J Brandt. “Psychological Costs and Benefits of Predictive Testing for Huntington’s Disease.” Current Neurology and Neuroscience Reports., U.S. National Library of Medicine, 15 Sept. 1994, www.ncbi.nlm.nih.gov/pubmed/7810575.

“Huntington Disease: MedlinePlus Medical Encyclopedia.” MedlinePlus, U.S. National Library of Medicine, medlineplus.gov/ency/article/000770.htm.

“Huntington’s Disease | HD.” MedlinePlus, U.S. National Library of Medicine, 6 Sept. 2018, medlineplus.gov/huntingtonsdisease.html.

“Huntington’s Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 16 May 2018, www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117.

Snowden, J S. “The Neuropsychology of Huntington’s Disease.” Current Neurology and Neuroscience Reports., U.S. National Library of Medicine, 1 Nov. 2017, www.ncbi.nlm.nih.gov/pubmed/28961886.