Winston Churchill High School
Teacher: Mr. Jonathan Lee
With the advancement of genetic testing and medical techniques, the ability to detect and diagnose neurodegenerative diseases has improved greatly. Huntington’s disease (HD) is one such chorea that is characterized by its autosomal dominance, lower age-of-death, and high suicide rate among those afflicted (1). Simultaneously, the ethical questions related to these debilitating diseases bring patients and genetic counselors into quandaries.
HD is genetic and fully penetrant with no therapeutic options available yet. Inheriting a single allele from an afflicted parent ensures development of HD in offspring. The onset of HD typically occurs between 30 to 50 years of age and shortens lifespan with variation in probability of age of death related to the CAG-repeat length mutations within the huntingtin (HTT) gene (2). Leading causes of death are pneumonia, followed by suicide (1).
The complexity of Jonathan’s case is threefold; the ethical considerations and rights of all three involved parties must be considered. Although Jonathan is legally entitled to the privacy of his medical information, his reasoning may be significantly more complex. Jonathan’s concerns are likely personal; refusing to inform his daughter (Sarah) would relieve any psychological trauma she may experience as a result of this knowledge. Huntington’s, as a neurodegenerative disease, comes with a financial as well as emotional toll. In a 1,272 patient study, mean total annualized cost under commercial insurance was $4947-$22,582 (early-late stage) and $3257-$37,495 (early-late stage) under Medicaid (4). Patients afflicted with HD require care and supervision due to loss of motor function, accompanying dementia, and increased risk of suicide (1). Conversely, there are compelling arguments to be made against Jonathan’s position. The risk of transmission of the HD allele, 50%, is sufficient to immediately presuppose genetic testing for Sarah to determine presence of Huntington’s, length of mutation, and proactively review options with a genetic counselor (1).
In order to follow the ethically justifiable option, Jonathan should act to share his diagnosis with Sarah. As a parent, Jonathan has an obligation to inform his daughter of the risks his genetic background has engendered against her health. The deontological background of this decision is readily and logically supported by the medical aspects of HD. Due to the severity of the condition, as well as the insights that genetic testing could provide (presence of the mutation and CAG-repeat extension status related disease severity), informing Sarah immediately would allow her to determine her own choices regarding her health. By depriving Sarah of the information of diagnosis, Jonathan is removing her autonomy and ability to execute more informed decisions. Due to the legal limitations of patient information security, the genetic counselor (Karen) would not be able to share the diagnosis with Sarah. The medical staff should instead seek to involve Sarah and explain to Jonathan on a patient-practitioner basis the value of informing Sarah. While it is the duty of the genetic counselors to respect the patient’s wishes, there is a simultaneous, implied onus upon them to carry out their duties as medical professionals and help mitigate the family risks and further suffering associated with the disease. In the familial aspect of the patient’s condition, common pressures that the medical staff feel to disclose information to family members include the “perceived need or obligation to disclose” and the “fear that the relative carries a reproductive risk” (3). Jonathan’s case includes both aspects, which would facilitate a response by the medical staff to disclose his condition to his daughter. Beyond that, the relevance of the diagnosis to any children Sarah may have (or decide to have) based on the information, as a potential carrier of the HD allele would outweigh Jonathan’s concern and expand the impact of Jonathan’s status as an HD carrier. The knowledge would also allow Sarah to consider potential clinical trials aimed at mitigating HD (6). In a small study, HD has been determined to have a “considerable impact... on the motor and psychological functions” and the clinical dimensions of “precise movement, depression/anxiety, and function were the most altered” (7). This negative impact on health could be avoided for future generations. According to the norms of parental obligation, the rights of Sarah, and the potential to reduce or prevent human suffering, Jonathan should disclose his diagnosis to his daughter and utilize the opportunity presented by modern genetic advancements to improve the lives of those around him.
1) Harper, Ben. “Huntington disease” Journal of the Royal Society of Medicine vol. 98,12 (2005): 550. doi: 10.1258/jrsm.98.12.550.
2) Keum, Jae Whan et al. “The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease” American Journal of Human Genetics vol. 98,2 (2016): 287-98. doi: 10.1016/j.ajhg.2015.12.018.
3) Gallo, Agatha M et al. “Disclosure of genetic information within families” American Journal of Nursing vol. 109,4 (2009): 65-9. doi: 10.1097/01.NAJ.0000348607.31983.6e.
4) Divino, V. et al. “The direct medical costs of Huntington's disease by stage. A retrospective commercial and Medicaid claims data analysis” Journal of Medical Economics vol. 16,8 (2013): 1043-50. doi: 10.3111/13696998.2013.818545.
5) Bertram, Lars and Rudolph E Tanzi. “The genetic epidemiology of neurodegenerative disease” Journal of Clinical Investigation vol. 115,6 (2005): 1449-57. doi: 10.1172/JCI24761.
6) Rodrigues, Filipe et al. “Huntington’s Disease Clinical Trials Corner: January 2019” Journal of Huntington’s Disease vol. 8,1 (2019): 115-25. doi:10.3233/JHD-190001.
7) Dorey, Julie et al. “The quality of life of Spanish patients with Huntington's disease measured with H-QoL-I and EQ-5D” Journal of Market Access & Health Policy vol. 4,10 (2016). doi: 10.3402/jmahp.v4.27356.