Partnership for Scientific Inquiry
Teacher: Dr. Tammy Martin
Ethical Issues in Disclosing Huntington's Disease to Family
Huntington’s disease (HD) is a dominant autosomal disease that manifests with a genetic mutation on the tip of human chromosome 4p (1). No cure currently exists for HD, and symptoms ranging from chorea, personality change, dementia, and caudate and putamen atrophy can severely decrease quality of life. The number of repetitions of trinucleotide CAG on the HTT allele determines the disease’s severity. Anticipation occurs if the paternal transmitter has more than 50 repetitions of CAG, resulting in juvenile-onset for his affected children (1). There are three major components of this ethical dilemma. The first is Sarah’s decisions regarding family planning, the second, the lack of knowledge of the severity of Jonathan’s HD and therefore if it affects his decision making, and finally, the conflict between Sarah’s right to know about her own body and Jonathan’s right to privacy.
Jonathan’s most prevalent right is his right to physician-patient privacy. Legally, Karen cannot disclose information to Sarah without Jonathan’s consent. As outlined in HIPAA guidelines: “if the patient is present and able to make decisions, the provider must (i) obtain the patient’s permission” (2) before disclosing information to family members. Jonathan’s consent to the disclosure of the diagnosis is required. As Dr. Nagaraja notes in her article on HD: “Issues of autonomy need to be addressed not only within the doctor-patient relationship, but also the individual’s social network. Legal issues about the right to information and disclosure are essential” (3). Although the patient’s social network might be impacted by the diagnosis, it is ultimately the patient’s decision whether or not to tell his family. Jonathan’s goal in this situation is not to disclose his diagnosis to Sarah. Therefore this wish must be respected by Karen.
Karen has a duty as a health care provider to respect privacy laws outlined in HIPAA. Karen additionally has a duty to do no harm, but also a duty of beneficence to Jonathan. “The right to know (autonomy), and alternatively not to know, must be judged against the ethical principles of ‘do no harm’ and ‘duty of care’ (beneficence)” (4). It is Karen’s duty to decide whether the potential harm of withholding information from Sarah is more important than respecting Jonathan’s wishes. Ultimately, Karen’s goal is for all parties to live a healthy life. Additionally, Karen must assess the possibility that “cognitive symptoms [are] present which can progress to dementia” (5) and affect Jonathan’s mental fitness and ability to make this decision. Karen must decide what kind of strategies she needs to use to ensure Jonathan’s understanding of the situation. Karen needs to balance her duty as Jonathan’s healthcare provider with her duty to do minimal harm.
Finally, Sarah’s duty is a mother’s duty: to raise healthy children. Her goal is to live a happy life. We don’t know how many CAG repetitions Jonathan has, so it is very possible for her to have juvenile-onset HD. If she becomes pregnant or has kids before she begins to experience symptoms, she could create a stressful and unhealthy environment for her child. Also, Sarah might not want her child to ever have HD. Because her father has HD, and due to the disease’s dominant nature, she has a 50% chance of having the mutation. If she has HD, her child also has a 50% of expressing the mutation (1). If Sarah is informed of the disease, she could choose to exert certain medical options such as Pre-Implantation Genetic Diagnostic with In Vitro Fertilization to ensure that the implanted egg does not carry the genetic mutation (6).
Although Sarah has a right to know about her body, Karen is Jonathan’s genetic counselor so she must respect privacy laws. However to ensure Jonathan understands the gravity of the decision he is making, Karen should use “Teach Back,” a strategy where the patient explains the diagnosis back to the physician. Because of the severity of the disease, and the possibility of more than 50 CAG repetitions resulting in a juvenile-onset for Sarah, Karen should encourage disclosure. However, under no circumstance should Karen disclose the diagnosis without Jonathan’s consent. When one seeks medical attention, privacy laws are crucial to establishing ethical standards for physicians to rely on. Current privacy laws prioritize privacy; however, for cases like these, updating these laws for cases of genetic diseases to warn family members in advance of pregnancy should absolutely be considered, as the consequences of nondisclosure can be calamitous.
1 : Caron, Nicholas S. “Huntington Disease.” Current Neurology and Neuroscience Reports., U.S. National Library of Medicine, 5 July 2018, www.ncbi.nlm.nih.gov/books/NBK1305/
2 :“HIPAA and Disclosure to Family Members or Others Involved in the Patient's Care.” Holland & Hart LLP, www.hollandhart.com/hipaa-and-disclosure-to-family-members.
3 : Nagaraja, S., et al. "Perspectives towards predictive testing in Huntington disease." Neurology India, vol. 54, no. 4, 2006. Health Reference Center Academic, https://link.galegroup.com/apps/doc/A154772015/HRCA?u=
4: McCusker, E., and Loy, C. “Huntington Disease: The Complexities of Making and Disclosing a Clinical Diagnosis After Premanifest Genetic Testing”, U.S. National Library of Medicine, 6 Sept. 2017, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5623754/
5 : “Dementia in Huntington's Disease – HOPES Huntington's Disease Information.” HOPES Huntington's Disease Information, 29 Oct. 2014, https://hopes.stanford.edu/dementia-in-huntingtons-disease/
6 : “Genetic Testing & Family Planning / Prenatal Testing.” Huntington's Disease Society of America What Is HD Comments,