The Summit Country Day
Teacher: Mrs, Karen Suder
Huntington’s disease (HD) is a progressive, invariably fatal neurodegenerative disease characterized by the triad of cognitive decline, involuntary movements, and behavioral changes. Transmit-ted as an autosomal dominant disease, HD is caused by expansion of the cytosine-adenine-guanine (CAG) trinucleotide repeats in the huntingtin gene located on chromosome 4p16.3 (Caron, Dorsey, & Hayden, 2018). CAG repeat length is positively correlated with neuronal loss and rate of clinical disease progression, and has been shown to be expanded between successive generations. Genetic testing is highly sensitive and specific, approaching 100% (Zhao et al., 2017).
In the case presented, it is helpful to know the rights, goals, and duties of the parties involved. Jonathan has the right to the privacy of his health information. Confidentiality is fundamental to the relationship between patients and health providers, and is guaranteed by laws such as the Health Insurance Portability and Accountability Act (Office for Civil Rights, 2015). Jonathan’s goal as a patient is to ensure that he gets the care that will allow him to have the best quality of life possible, which includes avoiding stressful situations that may cause him further psychological burden. This may partly explain his reluctance for disclosing his disease to Sarah, and thus avoid events that his disclosure might trigger, such as depression, family conflicts, and financial difficulties. As Sarah’s father, Jonathan may also feel duty-bound to protect and ensure her welfare. Currently, there is no known cure for HD, and no standard intervention that effectively modifies a patient’s risk and disease course. Jonathan may assume that since HD is not preventable and treatable, then it is futile for Sarah to know; it might be best for her to remain in blissful ignorance until she manifests with the symptoms. Sarah, herself, may not want to know that she is at risk. The probability of suicide, attempted suicide, and psychiatric hospitalization after predictive testing for HD is approximately 1%, with appropriate support (Stuttgen et al., 2018). If Sarah finds out that she has the HD gene, life insurance and long-term care companies will deem her too risky for coverage, which she might need for stability and support.
As a daughter, Sarah has the filial duty to help care for her father. Knowing that she carries the gene herself may make this experience more challenging for her. On the other hand, if she tests negatively, then she may develop survivor’s guilt, which may also cause relational conflicts in the family.
As the genetic counselor, Karen is faced with the dilemma of ensuring the confidentiality of Jonathan’s health information and informing Sarah of the possibility of sharing her father’s medical disease. In this scenario, Jonathan is clearly Karen’s patient. Karen might consider Jonathan’s family to be her patients as well since they share his genetic risks. Unauthorized disclosure of genetic risk to a patient’s relative has been described in cases where the disease is serious, imminent, preventable, and treatable (Stuttgen et al., 2018). Early monitoring and intervention would not reduce Sarah’s genetic potential given current standards of care, but disclosure may allow her to prevent transmission to her future children.
Ultimately, Sarah should be informed of her father’s diagnosis. She has the right to self-determination, to understand risks in her health, and to make reproductive choices that are consistent with her belief system. Knowing her potential of inheriting HD and getting tested for it may provide her with clearer information in deciding if she would like to have children at all, or to consider options for preimplantation genetic diagnosis in order to avoid transmitting the gene to her future children (Caron et al., 2018). By knowing, she will have ample time for advance care planning and to position herself so that she can potentially receive the best care possible. She may choose to access centers of excellence in HD. This will allow her to participate in clinical trials for supportive management and possible disease-modifying treatments, which would help her care and also further the science in HD. Although there is no known cure for HD, there are ongoing phase 1/2 clinical trials that test gene silencing through antisense oligonucleotide techniques and RNA interference, with the goal of reducing mutant human huntingtin expression, and eventually improving neuropathological phenotypic expression (Drew, 2018). As a young adult, it is safe to assume that Sarah’s goal is to achieve a productive and happy life. Knowledge, alongside optimal multi-disciplinary support, will help empower Sarah in achieving this goal.
Caron, N. S., Dorsey, E. R., & Hayden, M. R. (2018). Therapeutic approaches to Huntington dis-ease: From the bench to the clinic. Nature Reviews Drug Discovery, 17(10), 729-750. doi:10.1038/nrd.2018.133
Drew, L. (2018). How the gene behind Huntington’s disease could be neutralized. Nature, 557(7707). doi:10.1038/d41586-018-05176-z
Office for Civil Rights. (2015, December 18). 354-Does the HIPAA Privacy Rule protect genetic information. Retrieved from https://www.hhs.gov/hipaa/for-professionals/faq/354/does-hipaa-protect-genetic-information/index.html
Stuttgen, K., Dvoskin, R., Bollinger, J., Mccague, A., Shpritz, B., Brandt, J., & Mathews, D. (2018). Risk perception before and after presymptomatic genetic testing for Huntingtons disease: Not always what one might expect. Molecular Genetics & Genomic Medicine, 6(6), 1140-1147. doi:10.1002/mgg3.494
Zhao, M., Cheah, F. S., Chen, M., Lee, C. G., Law, H., & Chong, S. S. (2017). Improved high sensitivity screen for Huntington disease using a one-step triplet-primed PCR and melting curve assay. Plos One, 12(7). doi:10.1371/journal.pone.0180984