Newport High School
Teacher: Ms. Margaret Will
A Physician’s Ethical Dilemma in Disclosing Familial Genetic Risks
Huntington’s Disease (HD) is an inherited and incurable disease that causes progressive degeneration of the brain’s nerve cells. It is caused by an HTT gene mutation which involves a DNA segment known as CAG (cytosine, adenine, and guanine) trinucleotide. While a normal HTT gene contains ten to thirty-five repeats of CAG trinucleotide, a defective gene contains forty or more repeats (National Institute of Health). Since a patient only needs one copy of the defective gene from either parent to develop HD, each child in the family has a fifty percent chance of inheriting the disease. HD has a prominent impact on the patient’s functional abilities, resulting in the motor, behavioral, and cognitive disorders. While medications help with the symptoms, especially with an early diagnosis, the progressive nature of the disease usually results in death within twenty years after signs and symptoms begin (Mayo Clinic). As HD can be diagnosed by genetic testing before the advent of symptoms, physicians face an ethical dilemma in the disclosure of testing results to the patient and family. In this particular dilemma where a father (Jonathan, age: 50), with just diagnosed HD, refuses to inform his daughter (Sarah, age: 25) of his condition, the physician must carefully balance the goals, rights, and duties of both the father and the daughter, as well as his professional and legal responsibilities, before deciding to honor Jonathan’s requests and maintain the confidentiality of his diagnosis.
Jonathan’s refusal to disclose his diagnosis to his daughter is based on his goals of retaining his autonomy and protecting his daughter. To achieve his goals, Jonathan is exercising his rights of confidentiality from his physician. Jonathan has a clear right to choose whether to share his diagnosis with Sarah and the extent he would like her involved in the matter. Finally, he must decide between his conflicting duties of full disclosure to Sarah to allow her to make her personal health decisions with his paternalistic duties of protecting her from the negative consequences of potential diagnosis at a young age, which may include anxiety, depression, and even suicide attempts.
Since Sarah is a silent party in this dilemma, the physician must decipher and safeguard her goals, rights, and duties. As ruled by the United Kingdom’s Court of Appeal in ABC v St George’s Healthcare (Chico), the physician could argue that Sarah’s primary goal is to exercise self-determination in making health decisions. As such, she has the right to know her own risks of HD which could affect her plans of starting a family. If diagnosed with the disease, she may choose not to have children of her own or do so only after prenatal diagnosis. Her primary duty, hence, is to ensure that her future family is not burdened with HD and appropriate protective measures are in place in case she carries the disease.
The physician’s goals in this dilemma include keeping Jonathan’s trust and the request for confidentiality as well as ensuring that Sarah is fully informed in her health decisions. He must adhere to his professional duties, as governed by the American Medical Association’s policies on disclosure of familial risk in genetic testing (Schleiter), and his legal duties, as governed by the Health Insurance Portability and Accountability Act (Black, Simard and Knoppers). Both organizations advocate strict non-disclosure policies unless a serious and imminent threat can be averted by breaking physician-patient confidentiality.
Before deciding on the presented ethical dilemma, the physician should choose to obtain Jonathan’s informed consent by discussing the benefits of giving Sarah full information and a possible earlier diagnosis. If Jonathan still chooses to pursue his goals of ensuring that Sarah leads a normal life for as long as possible, the physician must weigh the possible consequences of the disease on Sarah’s life. Since HD cannot be prevented or cured, an earlier diagnosis does not avoid any imminent threat to Sarah’s life. She may prefer not to be diagnosed clinically with little or no impact on her daily life for years to come. She may easily choose to live the prime of her life without associated anxiety and distress. Hence, without any serious threats to Sarah’s life, as outlined by the physician’s professional and legal duties, the physician must honor his duties to Jonathan by respecting physician-patient confidentiality. While he is failing to safeguard Sarah’s goals and his duties of disclosure with this decision, he is upholding his ethical responsibilities and reinforcing his physician-patient relationships with both Jonathan and Sarah.
Black, L, J Simard and BM Knoppers. "Genetic testing, physicians and the law: will the tortoise ever catch up with the hare?" PubMed (2010): 115-120. Electronic.
Chico, Victoria. ABC v St George’s Healthcare NHS Trust: an arguable duty to disclose familial genetic risks. 10 July 2017. Electronic. 2 January 2019.
Mayo Clinic. Huntington's Disease. 16 May 2018. Electronic. 2 January 2019.
National Institute of Health. Genetics Home Reference. 8 January 2018. Electronic. 2 January 2019.
Schleiter, Kristin E. "A Physician’s Duty to Warn Third Parties of Hereditary Risk." American Medical Association Journal of Ethics (2009): 697-700. Electronic.