Convent of the Sacred Heart
Teacher: Dr. Kristina Gremski
Huntington’s disease (HD), an autosomal dominant disorder, has a fifty percent chance of being passed down from parent to child. Therefore, Jonathan’s decision to conceal his diagnosis from his daughter, Sarah, poses an ethical dilemma for his genetic counselor, Karen. In HD, the mutant huntingtin allele on chromosome 4 produces excess glutamine, due to a repeat expansion mutation of the CAG region in the gene. The CAG codon is normally repeated from 9 to 35 times, however, in someone with HD, it is repeated from 36 to 121 times. Due to these repeats, the mutant huntingtin protein takes on an abnormal shape and breaks in half. The smaller piece of the protein then penetrates a neuron’s nucleus and kills the cell. Because only one mutant allele is needed to produce excess glutamine, the mutant allele is dominant for the huntingtin gene, causing the high possibility of inheritance. The early symptoms of HD often include depression, mood swings, memory loss, and uncontrollable movements. As the disease progresses, sufferers experience difficulties walking and speaking, further memory and intellectual complications and, eventually, death. Unfortunately, there is no cure for Huntington’s disease, making Jonathan’s situation very dire (“Huntington Disease”).
First and foremost, Jonathan has a legal right to his privacy according to HIPAA laws, meaning a healthcare provider cannot disclose his information to anyone against his will. Karen is obliged to abide by HIPAA laws by respecting Jonathan’s right to confidentiality (Office for Civil Rights). Jonathan’s main goal is to maintain his dignity. Yet, he also has a duty to protect the health of future generations of his family to the best of his ability. Karen has a duty to Jonathan to offer her genuine and unbiased advice, making sure to provide him with the facts about HD and the implications for both his life and the lives of his family members. One of her goals is to inform Jonathan of the best course of action given his diagnosis. Similarly, her goal as a healthcare provider is to ensure the health of as many people as possible, which may include Sarah and her possible future children. This makes Jonathan’s situation particularly challenging.
Although not legally protected, Jonathan’s daughter Sarah has a right to know her options in terms of genetic testing. Unfortunately, if Sarah knows that she has HD, there is nothing she can do to hinder its onset because the disease has no cure. However, if she is unaware of her likelihood of having HD, Sarah could unwillingly continue the inheritance of HD in her family, if she is planning to have children. Consequently, Sarah will be unable to fulfill her goal of planning effectively for her future. In this sense, Jonathan’s decision to keep his diagnosis from Sarah could impact the future health of his family because his grandchildren have a twenty-five percent chance of inheriting HD. However, by exploring other options for growing her family, Sarah can potentially eliminate HD from her family, as an autosomal dominant mutation cannot skip generations. In all, the implications that Jonathan’s diagnosis will have on Sarah’s future must be taken into account.
Although Karen does not have the right to make an ultimate judgment call for Jonathan, she could propose that Jonathan encourage Sarah to see a genetic counselor, if she is indeed starting a family. One of Sarah’s options for having unaffected children is a preimplantation genetic diagnosis. In this procedure, cells are extracted from early embryos conceived by in vitro fertilization and their DNA is tested for the number of CAG repeats using polymerase chain reaction. Only the embryos without the mutant huntingtin allele are implanted, ensuring that the children are unaffected (Blancato). Maintaining Jonathan’s privacy remains an ethical concern. This could be compromised because if Sarah will discover her father’s diagnosis if she herself has HD. By this time though, Jonathan may already have symptoms, because they can occur before cell death, and Sarah learning of Jonathan’s condition is eventually inevitable (“Huntington Disease”). By encouraging Sarah to be tested, Jonathan fulfills his duty of securing a healthy future for his family, while staying in control of his diagnosis. Karen achieves her goal of providing apt guidance to her client and Sarah can plan effectively for her future. Most importantly, each person is able to have autonomy, providing for an ethical solution to Jonathan’s dilemma.
Biological Sciences Curriculum Studies. "Thinking about Ethical Questions." ESSAYS: Hard Choices. Basic Genetics: A Human Approach Student Edition, 3rd ed., Dubuque, Kendall Hunt Publishing, 1999, pp. 46-48
Blancato, Jan K et al. "Preimplantation genetics and other reproductive options in Huntington disease" Handbook of Clinical Neurology, vol. 144, 2017, pp. 107-111, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837037. Accessed 7 Feb. 2019.
"Huntington Disease." Your Genes Your Health, DNA Learning Center, yourgenesyourhealth.org/hd. Accessed 1 Feb. 2019.
Office for Civil Rights. Summary of the HIPAA Privacy Rule. 26 July 2013. U.S. Department of Health & Human Services, www.hhs.gov/hipaa/
for-professionals/privacy/laws-regulations/index.html#. Accessed 1 Mar.