Convent of the Sacred Heart
Teacher: Dr. Kristina Gremski
In a fictional scenario, Jonathan, age 50, was recently diagnosed with Huntington’s disease (HD) and will not allow his genetic counselor Karen to disclose this diagnosis to his 25-year-old daughter, Sarah. Karen should strongly encourage Jonathan to share his diagnosis with Sarah, but, if he continues to refuse, she has the moral duty to tell Sarah herself.
Ideally, Jonathan would fulfill his parental duty to care for Sarah’s health and needs by disclosing his diagnosis to Sarah. HD is a an untreatable, progressive genetic disease caused by a dominant mutation in the huntingtin gene. Sarah has a 50% chance of inheriting the mutant allele, and, if she does have it, her own children will have a 50% chance of inheriting it. HD is caused by extra repeats of the nucleotides C, A, and G on the huntingtin gene, which normally has 9 to 35 CAG repeats. Known as an insertion mutation, it can change the shape and, consequently, the function of the huntingtin protein, thus determining the severity of an individual’s symptoms. The abnormally-shaped huntingtin interacts with proteins that cut it in two, allowing a portion of huntingtin to enter the nucleus of the neuron. Researchers believe that these huntingtin proteins destroy the brain cells, which leads to a range of symptoms including involuntary movements, depression, and memory loss (“Huntington Disease”). The number of CAG repeats in the mutant huntingtin allele tends to increase with each generation, so, if Sarah does have HD, she is likely to suffer from more severe symptoms than Jonathan will. It will change the course of her life, and she has the right to know her medical condition.
Jonathan, however, may have specific goals in mind in keeping his medical information private. His right to parent as he sees fit might include the goal of protecting Sarah from conditions such as depression and allowing Sarah to live her life without fear. Furthermore, he may wish to keep his information private to prevent his friends, family, and coworkers from viewing him differently. In addition to these personal goals, Jonathan has the legal right to privacy under the HIPAA Privacy Rule. This law protects Jonathan’s privacy and states that Karen, too, has the legal duty to keep his information confidential (“Summary of the HIPAA”). Although Karen’s duty as a healthcare provider is to keep the medical information of her patients private, her overall goal is to protect as many people as she can while improving people’s health and quality of life. As Jonathan’s genetic counselor, Karen’s duty is to guide him to share his diagnosis with Sarah (McCabe et al.), hopefully leading to an outcome that aligns with Karen’s goals without requiring her to break the law.
Furthermore, Sarah has the right to know her medical information to make educated personal decisions. One of Sarah’s goals may be trying to start a family, and she has the right to know the medical consequences of reproduction. This knowledge could change Sarah’s decision to have children or lead her to look into in vitro fertilization and preimplantation genetic diagnosis options to avoid passing down HD to future generations. Furthermore, Sarah’s career path could be completely reshaped by a HD diagnosis. If, for example, Sarah wants to become a surgeon, her undiagnosed symptoms could put her patients’ lives at risk.
Thus, the moral duty to protect Sarah’s future children overrides Jonathan’s right to confidentiality. Although Karen has a legal duty to protect Jonathan’s confidentiality, there is a precedent for breaking patient confidentiality. Patient confidentiality is not an absolute right, and public health laws “require the breaking of [medical] confidentiality to prevent an individual from harming [. . .] a third party” (Zalot and Guevin). Likewise, law requires that confidentiality be broken in court cases (Peel). This right generally applies to patients who are suicidal, have contagious diseases, or are directly threatening harm to others. While HD is not contagious, Sarah’s future children would be members of an endangered third party, thus justifying Karen’s disclosure of Jonathan’s medical information to Sarah. Truly, it is Jonathan’s duty to inform Sarah of his condition, but, if he continually refuses to do so, Karen becomes responsible for the disclosure. Morally, it is necessary for Sarah to know of Jonathan’s diagnosis as she has the right to know the details of her own medical situation, to make responsible life and career decisions, to protect her future children, and to prepare to care for Jonathan in the years to come.
"Huntington Disease." Your Genes Your Health, Cold Spring Harbor Laboratory, www.ygyh.org/hd/whatisit.htm. Accessed 11 Feb. 2019.
McCabe, Mary S., RN, MA, et al. "When the Family Requests Withholding the Diagnosis: Who Owns the Truth?" Journal of Oncology Practice, Mar. 2010, doi:10.1200/JOP.091086. Accessed 11 Feb. 2019.
Peel, Michael, MBBS DMJ. "Human Rights and Medical Ethics." Journal of the Royal Society of Medicine, Apr. 2005, doi:10.1258/jrsm.98.4.171. Accessed 11 Feb. 2019.
"Summary of the HIPAA Privacy Rule." U.S. Department of Health & Human Services, May 03, www.hhs.gov/hipaa/for-professionals/privacy/laws-regulations/index.html. Accessed 11 Feb. 2019.
Zalot, Josef D., and Benedict Guevin, OSB. Catholic Ethics in Today's World. Rev. ed., Saint Mary's Press, 2008.
"Thinking about Ethical Questions." Essays: Hard Choices. Basic Genetics: A Human Approach
Student Edition, 3rd ed., Kendall Hunt Publishing, 1998, pp. 46-48. Biological Sciences Curriculum Studies.