Plymouth Whitemarsh High School
Teacher: Prof. Sabina McNally
Huntington’s disease (HD), a neurodegenerative genetic illness, not only impacts the individual diagnosed or at-risk with the disease but also the entire family of the affected individual. As an autosomal dominant condition, each child of an affected parent has a 50 percent chance of also inheriting HD, which typically manifests itself in someone’s 30s or 40s and currently has no cure (5). HD causes involuntary movements, behavioral symptoms, and a progressive decline in cognitive functions (5). Parents diagnosed with HD, such as Jonathan, have to face difficult decisions on when and how to inform their children of their diagnoses.
By withholding his diagnosis from Sarah, Jonathan’s probable goal is to protect his daughter from psychological distress resulting from his diagnosis and her discovery of her at-risk status. As her father, Jonathan believes that it is his duty to protect Sarah from harm. Furthermore, Jonathan may be struggling to accept and cope with his diagnosis. Jonathan may believe that he, rather than the genetic counselor, should be the one to deliver this personal information once he feels that he and his daughter are ready. Since HD is typically a late-onset disease, Jonathan may not want to burden Sarah with the thought of HD since she is only 25 years old and cannot prevent the illness if she tests positive for the mutation (5).
However, Jonathan is preventing his daughter from receiving valuable information by not allowing Karen to disclose his diagnosis. If Sarah were a young child, she may have greater difficulty processing the information presented to her, and it may be of less relevance. As an adult, however, Sarah may decide to receive genetic testing to resolve uncertainty about her future and to be able to plan for a family (1). Sarah may decide not to have children or may choose to adopt. She may consider other options such as preimplantation genetic diagnosis (PGD), prenatal testing, or ovum donation to prevent her child from inheriting the mutation (2). Furthermore, Sarah may decide to participate in HD research or raise awareness of HD to help find a cure.
As Jonathan’s genetic counselor, it is Karen’s duty to respect Jonathan's confidentiality and autonomy while at the same time ensuring nonmaleficence. Under the Privacy Rule of the Health Insurance Portability and Accountability Act (HIPAA), Karen must respect Jonathan's right to not disclose his diagnosis, as HD cannot be prevented and does not pose an immediate and serious threat to Sarah's health (4). It is Karen’s duty to inform Jonathan of the potential implications of his decision and explain HD’s pattern of inheritance. It is important for Jonathan to understand that it is Karen’s goal to support him and his family. Jonathan should ultimately allow Karen to disclose his diagnosis with Sarah.
Although Jonathan may be aiming to protect his daughter from the pain of discovering that he has HD, he may cause her more distress by withholding this information. HD can cause personality changes and severe emotional disturbances, including aggression, impulsivity, and depression (3). As Jonathan develops more severe symptoms, Sarah may not understand her father's unusual behavior, which may damage her relationship with him. If she discovers that he withheld information from her, she may also become resentful.
Additionally, without knowing that her father has HD, Sarah may not be able to help provide her father with the proper care and make appropriate decisions about his health when he begins to lose his ability to reason and speak (5).
Furthermore, Jonathan may not be able to discern the appropriate time in the future to tell Sarah of his diagnosis if he is planning on divulging this information himself since HD impairs an individual’s memory, judgment, and decision-making abilities (5). Genetic counselors are trained in both medical genetics and counseling (6). Therefore, Karen is able to provide Sarah with more information about the genetics of HD and access to additional support and resources as needed, such as genetic testing and family planning.
By providing Sarah with this information, Jonathan will allow Sarah to make informed decisions about her own health and future. Communication within families about genetic risks is necessary to allow for independent decision making. Although there are risks to disclosing his diagnosis with her, the benefits of being transparent with his daughter outweigh the potential costs.
(1) Baig, Sheharyar S et al. “22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium”European journal of human genetics : EJHG vol. 24,10 (2016): 1396-402., doi: 10.1038/ejhg.2016.36.
(2) “Having Children.” Huntington's Disease Youth Organization, Huntington's Disease Youth Organization, en.hdyo.org/you/articles/45#2.
(3) “Types of Dementia: Huntington's Disease.” Alzheimer's Association, Alzheimer's Association, www.alz.org/alzheimers-dementia/what-is-dementia/types-of-dementia/huntington-s-disease.
(4) Wendelsdorf , Katherine. “You Have a Genetic Disorder: Should Your Family Be Told They Might Carry the Mutation?” Genetic Literacy Project, Genetic Literacy Project, 1 Oct. 2013, geneticliteracyproject.org/2013/10/01/you-have-a-genetic-disorder-should-your-family-be-told-they-too-might-carry-the-harmful-mutation/.
(5) “What Is Huntington's Disease?” Huntington's Disease Society of America , Huntington's Disease Society of America , hdsa.org/what-is-hd/.
(6) “Who Are Genetic Counselors?” National Society of Genetic Counselors, National Society of Genetic Counselors , www.nsgc.org/page/whoaregcs.