Darien High School
Teacher: Ms. Christine Leventhal
In 1986, Richard Varney hurled himself off a bridge into the icy water below. He survived, but was never the same. “The once funny man who read the Encyclopedia Britannica for pleasure; the good dancer who loved ABBA… and AC/DC; the affable volunteer firefighter—that man was disappearing. He was being replaced by an erratic, raging misanthrope wedded to 40-ounce bottles of Bacardi” (Wadman). Richard Varney was diagnosed with Huntington’s disease in 1988—which explained his actions but offered no consolation. HD is a disease caused by a mutation in the HTT gene, which produces the protein huntingtin. A DNA segment of the nucleotides “CAG” is repeated 36 to more than 120 times in those with Huntington’s disease, much higher than the 10 to 35 repeats that those without the disease have (“Huntington Disease”). People who have HD have a 50% chance of passing on HD. They slowly lose control of their bodies and their minds, suffering involuntary jerks and twitches, mood swings and a slow deterioration of their mind. The usual survival time is 15-20 years after symptoms begin to show. There is no cure. HD tears its victim’s lives apart, with far reaching consequences for the 30,000 diagnosed Americans and the 200,000 more at risk who carry the mutation.
Jonathan, who has been diagnosed with HD, refuses to share this diagnosis with his daughter, who may be at risk for HD. His genetic counselor, Karen, has a duty to respect patient confidentiality. Jonathan has the right to privacy about his own medical condition. Furthermore, Jonathan also has the right to share or not share information. If Karen chooses not to disclose this information to Sarah, her goal will be to respect Jonathan’s rights as a patient and a person. In not disclosing his diagnosis, Jonathan does not want Sarah to worry about him, or worry about the possibility of having HD as well.
However, there are also reasons for revealing the diagnosis. Jonathan has a duty to take care of his daughter. Although HD cannot be currently be cured, symptoms can be treated. Knowing that she may have HD, Sarah could take measures to improve her health that can treat the symptoms of the disease. Sarah also has a right to know about her own medical condition, which Jonathan is withholding from her. The goal is to benefit Sarah’s health, and Karen has a duty to pursue said goal.
I disagree with Jonathan’s decision to not tell Sarah. He is preventing Sarah from learning about a potential medical issue that could affect her. Because Huntington’s disease is caused by an autosomal dominant gene, Sarah has a 50% chance of developing HD, since Jonathan was diagnosed with HD (“Huntington Disease”).
Jonathan may believe that the anxiety and feelings of hopelessness that Sarah may experience far outweigh the benefits of telling her, given that the disease is impossible to cure. Although Huntington’s disease does not have a cure yet, new research being conducted suggests that HD can be managed. Scientists have “identified HTT single-nucleotide polymorphisms tightly linked to the HD mutation and developed antisense oligonucleotides”, synthetic fragments of DNA that can bind to mRNAs, which can regulate protein expression. The antisense oligonucleotides suppressed the mutant HTT gene in a mouse model of HD, by targeting the single-nucleotide polymorphisms linked with the HTT gene. Both early and late treatments of HD were able to reduce mental impairments in mice by suppressing huntingtin expression. To determine effective in humans, antisense oligonucleotides usage on HTT brain expression in primates was examined. The treatment was successful, causing HTT suppression throughout the cortex and limbic system (Southwell, 2018). Using CRISPR/Cas9 in a separate trial, scientists were able to remove the CAG repeats from the HTT gene in HD patient-derived fibroblasts. The treatment suppressed HTT expression and stopped huntingtin synthesis (Dabrowska, 2018).
If Jonathan chooses to tell Sarah about his diagnosis, Sarah can make informed decisions. If she chooses to have children, she bears the risk of passing the mutation if she carries the HTT mutation. More importantly, Sarah can seek treatment if she does have HD. Some drugs to treat HD have already entered the trial phase, and Sarah can participate in those trials, which may improve her health, if she has HD. Recent scientific have shown success in reducing HTT expression, with applications for humans. Sarah can benefit greatly from new therapies, but will not be able to if she does not know that she is at risk of HD.
"Confidentiality, Patient/Physician." American Academy of Family Physicians, www.aafp.org/about/policies/all/patient-confidentiality.html. Accessed 8 Mar. 2019.
Dabrowska, Magdalena, et. al. "Precise Excision of the CAG Tract from the Huntingtin Gene by Cas9 Nickases." Frontiers in Neuroscience, 26 Feb. 2018, www.frontiersin.org/articles/10.3389/fnins.2018.00075/full. Accessed 8 Mar. 2019.
"Huntington Disease." U.S. National Library of Medicine, 5 Mar. 2019, ghr.nlm.nih.gov/condition/huntington-disease#genes. Accessed 8 Mar. 2019.
Myers, Richard H, et. al. "Huntington's Disease Genetics." National Center for Biotechnology Information, Apr. 2004, www.ncbi.nlm.nih.gov/pmc/articles/PMC534940/. Accessed 8 Mar. 2019.
Southwell, Amber L, et. al. "Huntingtin Suppression Restores Cognitive Function in a Mouse Model of Huntington's Disease." Science, 3 Oct. 2018, stm.sciencemag.org/content/10/461/eaar3959?sso=1&sso_redirect_count=1&oauth-code=3cb79603-ad34-4677-8036-03e23e504c8e. Accessed 8 Mar. 2019.
Wadman, Meredith. "Is a New Drug Keeping This Woman's Deadly Huntington Disease at Bay?" Science, 21 Aug. 2018, www.sciencemag.org/news/2018/08/i-feel-so-much-hope-new-drug-keeping-woman-s-deadly-huntington-disease-bay. Accessed 8 Mar. 2019.