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Honorable Mention

Shelli Lewis

Los Altos High School
Teacher: Mrs. Lisa Cardellini

Recently, a lawsuit in London was filed involving the genetic disclosure of Huntington’s disease (HD), a fatal, genetically inherited disorder that causes worsening breakdown of the nerve cells in the brain (What is HD?). In the progressive breakdown of these cells, patients experience many behavioral, cognitive and motor related symptoms such as anxiety, hallucinations, aggression, memory loss, and communication struggles (Liou, 2010). One of the most well-known symptoms is chorea, a disorder of the nervous system which brings uncontrolled, repetitive movements. The court case involved a man who was diagnosed as having HD, and his daughter, who he refused to inform, despite her risk of inheriting the gene. After eventually being told, the woman took the genetic test and learned that she will develop the condition, and that her newborn daughter has a fifty percent chance of inheriting the gene (Mackle, 2018). The case raised many ethical questions about the duties of clinicians to both patients and relatives. Does confidentiality outweigh the duty to warn? Do relatives have the right to be informed even against the patient’s wishes? These types of questions also need to be considered in the fictional case about Jonathan and Sarah, in which the father refuses to tell his children of his diagnosis. 

Some argue against disclosing private information to the family citing respect for a patient’s autonomy and medical privacy. While HIPAA (Health Insurance Portability and Accountability Act) laws already protect the privacy of patients, in the Pate vs. Threlkel case, which was decided in 1995 by the Florida Supreme Court, the judges maintained that physicians have a duty to warn relatives but that “warning the patient will satisfy the duty to warn” (Pate vs. Threlkel). This means that the doctor has a duty to warn only the patient of their relatives’ risk. Some argue that many at risk individuals choose not to take the genetic test in order to avoid stress about the impending condition. Less than 20% of people who have a risk of inheriting HD choose to take predictive testing (Guidelines for Genetic Testing of Healthy Children). It is entirely possible that Jonathan, the fictional patient with HD, wanted to spare his daughter from this stress before she has her own family. 

There are, however, many arguments that support the disclosure of this type of genetic information to the patient’s blood relatives. In the London case, her main justification for suing the medical staff was that in learning about this diagnosis after giving birth, she put even more people at risk of inheriting this disease. One study found that one third of HD carrier couples chose not to have children at all and one third chose to have prenatal diagnosis (Evers-Kiebooms, 1998). Also, by knowing about their diagnosis, people could consider participating in research studies. In 2017, Sarah Tabrizi presented the first human trial of a drug that silences the HD gene (Porter, 2017). Notifying Jonathan’s daughter could allow her to participate in research and, should a cure be developed, receive earlier treatment. According to the American Society of Human Genetics, although the general rule of confidentiality applies to all medical cases, one of the few exceptions states that disclosure is permitted when “the harm that may result from failure to disclose should outweigh the harm that may result from disclosure” (1998). This idea ties into the ethical principle of maximizing beneficence or minimizing harms. While some argue that knowledge of a risk of such a detrimental disease could cause unnecessary anxiety, one study found that 78% of people believed that they should be informed and 22% did not have a particular opinion (Porteous et al, 2003). In other words, most people would rather be informed. 

In my opinion, the genetic counselor in this fictional case should tell Sarah about her father’s diagnosis. Research shows that often times, a patient’s decision to hide the diagnosis from their relatives is partially due to their HD stage. In one study, people in the preclinical stage said their greatest concerns were how their diagnosis would affect relationships with and support from family (Ho, Hocaoglu, 2011). It is possible that Jonathan is afraid or has “not yet fully accepted the implications of the diagnosis” (Wusthoff, 2003). Providing him more time, information, and counseling to help him process the diagnosis could result in his agreeing to inform his family. Given medical developments are constantly being made, the benefits to Sarah of being informed outweigh concerns about confidentiality.

Citations/references:

Evers-Kiebooms, Gerry, and Marleen Decruyenaere. “Predictive Testing for Huntington's Disease: a Challenge for Persons at Risk and for Professionals.” Patient Education and Counseling, vol. 35, no. 1, Sept. 1998, pp. 15–26., doi:10.1016/s0738-3991(98)00086-x

Florida., C o. Pate v. Threlkel. U.S. National Library of Medicine, 20 July 1995, www.ncbi.nlm.nih.gov/pubmed/12041297.

Godard, Béatrice, et al. “Guidelines for Disclosing Genetic Information to Family Members: From Development to Use.” Familial Cancer, vol. 5, no. 1, Feb. 2006, pp. 103–116., doi:10.1007/s10689-005-2581-5. 

“Guidelines for genetic testing of healthy children” Paediatrics & Child Health vol. 8,1 (2003): 42-52.
Ho AK, Hocaoglu MB; for the European Huntington’s Disease Network Quality of Life Working Group. Impact of Huntington Disease across the entire disease spectrum: The phases and stages of disease from the patient perspective. Clin Genet. 2011 Jul 8.

Liou, Stephanie. “Symptoms Archives – HOPES Huntington's Disease Information.” HOPES Huntington's Disease Information, Huntington's Outreach Project For Education at Stanford, 2010, hopes.stanford.edu/category/science-of-hd/hd-basics/symptoms/. 

Mackle, Eleanor. “Woman Sues UK Hospital Over Huntington's Inheritance.” RNA Editing Tools Could Create New Disease Therapies - BioNews, BioNews, 3 Dec. 2018, www.bionews.org.uk/page_140188

Porteous, M, et al. “Is It Acceptable to Approach Colorectal Cancer Patients at Diagnosis to Discuss Genetic Testing? A Pilot Study.” British Journal of Cancer, vol. 89, no. 8, 20 Oct. 2003, pp. 1400–1402., doi:10.1038/sj.bjc.6601332 

Porter, Julie. “Biggest News in Huntington's Disease Research since the Identification of the HD Gene!” Hereditary Disease Foundation, Hereditary Disease Foundation, 12 Dec. 2017, www.hdfoundation.org/research-news/2017/12/12/biggest-news-in-huntingtons-disease-research-since-the-identification-of-the-hd-gene.

Professional Disclosure of Familial Genetic Information. American Society of Human Genetics, 1998, www.ashg.org/pdf/policy/ashg_ps_february1998.pdf

“What Is Huntington's Disease?” Huntingtons Disease Society of America What Is HD , Huntingtons Disease Society of America, hdsa.org/what-is-hd/.

Wusthoff, Courtney. The Dilemma of Confidentiality in Huntington Disease. University of California, San Francisco, School of Medicine, 3 Sept. 2003, web.mit.edu/7.72/restricted/readings/EthicsHuntington.pdf