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Honorable Mention

Weston Hicks

The Potomac School
Teacher: Dr. Isabelle Cohen

Huntington’s Disease (HD) is a rare, fatal autosomal genetic disorder that causes progressive degeneration of nerves in the brain, eventually killing the host due to complications with the disease.[1] The mutation that causes HD is found on chromosome 4 in the huntingtin gene. While healthy people carry two copies of the gene with 35 or less repetitions of the CAG triplet, Huntington’s disease carriers have 36 or more repetitions of this triplet.[2] Symptoms typically emerge between the ages of 30 and 50 often include mood swings, impaired judgement, slurred speech, deteriorating memory, and chorea, which is an involuntary unpredictable movement disorder. There is no cure for HD, and it is always inherited as the dominant gene from a parent. Offspring of HD patients have a 50% chance of contracting the disease as adults.[3] When a patient like Jonathan undertakes any form of genetic testing, informed consent must be obtained before moving forward with testing. Informed consent is defined as the assent of a competent patient given to a healthcare provider with the understanding of the consequences and/or possible complications in undergoing a procedure.[4] From a genetic standpoint, informed consent is obtained from a patient after a genetic counselor reviews several factors including: how the test will be administered, what the test results mean, whether the results might provide information about other family members' health (including the risk of developing a particular condition or having affected children), how and to whom test results will be reported, and under what circumstances results can be disclosed. To move forward with testing, the genetic counselor must document the patient’s consent, usually through a signed consent form.[5]

In this case, Jonathan’s desire to conceal his diagnosis from his daughter raises important issues to consider in both support and in opposition of his decision. He can defend his desire to keep his diagnosis confidential under both moral and legal principles. First, he can defend his right to confidentiality by asserting his right to patient autonomy, which is the foundation for informed consent. While Jonathan’s genetic counselor may recommend disclosure to Sarah of his HD, his right to autonomy entitles him to make his own decision and does not morally require him to share the information with Sarah.[6] Jonathan’s decision is further supported by the Hippocratic Oath that provides ethical standards for the medical community, including that confidentiality must always be upheld between the patient and their physician.[7] Second, federal law protects Jonathan’s right to confidentiality in the United States through the Health Insurance Portability and Accountability Act of 1996, 42 U.S.C. ยง 1320d.-6 (HIPAA). HIPAA provides penalties against his health care providers if they disclose his diagnosis without his permission.[8] On the other hand, the ethical principles of nonmaleficence (“to do no harm”) and beneficence (“do as much good as you can”) may favor disclosure to Sarah.[9] Disclosure to Sarah may enhance Jonathan’s support system as his disease progresses and may improve his longevity and quality of life, upholding the principles of doing no harm and maximizing benefit. Additionally, Jonathan’s judgement may be impaired due to the disease, which may further support disclosure under the theories of nonmaleficence and beneficence as his own decisions may no longer be in his best interest. Finally, while Sarah does not have a direct relationship with her father’s healthcare providers, they may be compelled to disclose the information to her due to her own risks in developing the disease and her interests in planning for the future and possible implications on her children.

Jonathan’s decision to conceal his HD diagnosis from his daughter is supported by his rights to confidentiality, autonomy, the Hippocratic Oath, and HIPAA. These moral and legal principles outweigh his daughter’s right to know his diagnosis under the principles of nonmaleficence and beneficence. Specifically, Jonathan’s right to make his own quality of life decisions outweighs Sarah’s right to know the diagnosis since Sarah cannot use the information to prevent or alter the course of the disease if she is a carrier.[10] The Huntington’s Disease Society of America states that HD is incurable and any treatments are focused on treating the symptoms and not preventing or curing the disease.[11] Under these circumstances, Jonathan’s rights to confidentiality and autonomy cannot be sacrificed for the benefits of disclosing his diagnosis to Sarah because it jeopardizes Jonathan’s trust in the medical system and sacrifices the standard for confidentiality for cases similar to his in the future.

References/citations

[1] “What Is Huntington's Disease?” Huntington's Disease Society of America , 2019, www.hdsa.org/what-is-hd/.
[2] Wadman, Meredith. “'I Feel so Much Hope'-Is a New Drug Keeping This Woman's Deadly Huntington Disease at Bay?” Science Magazine, American Association for the Advancement of Science, 27 Aug. 2018, 14:00,
www.sciencemag.org/news/2018/08/i-feel-so-much-hope-new-drug-keeping-woman-s-deadly-huntington-disease-bay.
[3] “What Is Huntington's Disease?” Huntington's Disease Society of America , 2019, www.hdsa.org/what-is-hd/.
[4] De Bord, Jessica. “Informed Consent.” Ethics in Medicine, University of Washington School of Medicine, 7 Mar. 2014, www.depts.washington.edu/bioethx/topics/consent.html#ref1
[5] Id.
[6] Sedig, Laura. “What's the Role of Autonomy in Patient- and Family-Centered Care When Patients and Family Members Don't Agree?” Journal of Ethics | American Medical Association, American Medical Association, 1 Jan. 2016, www.journalofethics.ama-assn.org/article/whats-role-autonomy-patient-and-family-centered-care-when-patients-and-family-members-dont.
[7] “From the Hippocratic Oath to HIPAA: A History of Patient Privacy.” Becker's Health IT & CIO Report, ASC Communications, 19 Aug. 2016, www.beckershospitalreview.com/healthcare-information-technology/from-the-hippocratic-oath-to-hipaa-a-history-of-patient-privacy.html.
[8]Id.
[9] The Ethics Centre. “Big Thinkers: Thomas Beauchamp & James Childress on Medical Ethics.” The Ethics Centre, 15 Aug. 2017, www.ethics.org.au/on-ethics/blog/august-2017/thomas-beauchamp-james-childress-medical-ethics.
[10] “What Is Huntington's Disease?” Huntington's Disease Society of America , 2019, www.hdsa.org/what-is-hd/.
[11] Id.