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Honorable Mention

Katherine Lei

Montgomery Blair HS
Teacher: Ms. Darcy Sloe

With the modern innovations in technology, genetic testing is becoming increasingly powerful. But intricate ethical dilemmas arise from its rapidly expanding capabilities, especially in the case of incurable diseases like the fatal neurodegenerative Huntington’s disease (Coppen, 2017). Huntington’s disease presents with slight mood changes and mental problems, but later progresses to movement disorders and more pronounced cognitive decline. Typical symptoms include difficulty talking and involuntary jerking movements known as chorea. Patients lack awareness, have difficulty planning, and have impaired memory (Dayalu, 2015). Additionally, its peripheral complications include reduced strength and increased kynurenine to tryptophan ratio, which is associated with aging and is also seen in patients with major depression (Carroll, 2015). Huntington’s disease will ultimately lead to dementia and death.

In the presented situation, Jonathan wishes to prevent his daughter Sarah from hearing about his diagnosis; he forbids Karen, his genetic counselor, to reveal the information. Conflicting goals, rights, and duties of the three parties add subtlety to this dilemma. Jonathan’s goal is shielding Sarah from knowing that he has Huntington’s so she can live without the burden of seeking treatment and caring for him. Furthermore, by suppressing the knowledge from Sarah, she will not be plagued with the worry that she may have Huntington’s disease. Jonathan also has the right to keep his personal information private. Arguably, Jonathan has the obligation to inform his daughter; however, he believes his duty is protecting Sarah from knowing about his condition.

Many of Karen’s considerations directly contradict Jonathan’s. As a genetic counselor, her goal is ensuring that Jonathan’s daughter has adequate information so Sarah can live the best possible life, but she must weigh Jonathan’s right to privacy and Sarah’s right to know. Karen may believe that her duty is serving her client by complying with his choice, or she may want to ensure Sarah’s welfare by informing her.

Taking all these factors into account, Karen should let Sarah know about Jonathan’s diagnosis as the potential benefits exceed the costs. The few benefits Jonathan derives from withholding the information include personal privacy and the wish to protect his daughter, which do not outweigh Sarah’s right to know and the possible tremendous effect on her life. Because the inheritance pattern of Huntington’s is autosomal dominant, there is a 50% chance that Sarah will have the disease later in life. This could greatly impact her future plans, as she will be starting a family soon. The earlier Sarah knows about her father’s diagnosis, the earlier she can be tested, enabling her to make informed choices about her future. Additionally, Jonathan is her father: because of their interactions, Sarah will find out about his illness, regardless of whether he tells her. Disclosing the information as soon as possible will make things easier for both of them in the long run.

Moreover, Huntington’s disease has an interesting mechanism of action. It is caused by a trinucleotide expansion of CAG in the huntingtin gene on chromosome 4—normally, there are fewer than 26 repeats, but in patients with Huntington’s, this number increases to more than 40, leading to deleterious effects on neuron stability. Huntington’s disease exhibits a relevant phenomenon called anticipation, in which offspring who inherit Huntington’s have an earlier onset of the disease than the parent due to increased CAG repeats. Although the age of onset in offspring is about the same as affected mothers, offspring of affected fathers fall in two groups—one in which the age of onset is slightly younger than the father, and another in which the age of onset is, on average, 24 years younger (Ridley, 1988). This is a startling fact. Sarah could develop Huntington’s in just a few years if she falls in that unfortunate group. Because of this, it is even more critical that Jonathan informs her.

There are numerous questions to consider in the case of the incurable Huntington’s disease. In Karen’s situation, it is important to inform Sarah so she can be tested. If a doctor or counselor knows that someone is at reasonable risk for a disease, it is always the right of the person to know. Concealing information is comparable to harming a patient—maleficence—which is against a central tenet of medicine (Beauchamp, 2009). As a counselor, Karen should tell Sarah about the diagnosis if Jonathan refuses to. Jonathan can choose to withhold the information, possibly causing an unnecessary burden for Sarah, or he can reveal his condition and respect her right to know. Ultimately, the right choice is to tell.

Citations/references:

Beauchamp, T. L., & Childress, J. F. (2009). Principles of biomedical ethics. New York: Oxford University Press.

Carroll J. B., et al. Treating the whole body in Huntington's disease. Lancet Neurol. 2015 Nov;14(11):1135-42. doi: 10.1016/S1474-4422(15)00177-5.

Coppen E. M., Roos R. A. C. Current pharmacological approaches to reduce chorea in huntington’s disease. Drugs. 2017;77:29–46. doi: 10.1007/s40265-016-0670-4.

Dayalu P., Albin R. L. Huntington disease: Pathogenesis and treatment. Neurol. Clin. 2015;33:101–114. doi: 10.1016/j.ncl.2014.09.003.

Ridley R. M., Frith C. D., Crow T. J., Conneally P. M. Anticipation in Huntington's disease is inherited through the male line but may originate in the female. J Med Genet. 1988;25:589–595.