Edward Tucker Scott
Teacher: Ms. Leslie Patient
DNA Day: Huntington’s Disease and Genetic Testing
Knowledge is power! Knowledge about one’s medical prognosis can only lead to thoughtful and responsible choices. According to Stuttgen et al., “Huntington's disease (HD) is an autosomal dominant inherited condition that is caused by trinucleotide repeat (CAG) expansion on chromosome 4 (at locus 4p16.3). This progressive neurodegenerative condition is characterized by cognitive deterioration, involuntary movements, abnormal involuntary motor control, and affective symptoms. While some of the disease can be managed with medication, there is no cure” (1). Huntington's disease is the quintessential family disease, and genetic testing is available. This essay will examine the case of Jonathan, age 50, who has been diagnosed with Huntington's disease. His genetic counselor, Karen, seeks Jonathan’s consent to disclose this diagnosis to his daughter, Sarah, who is 25. Jonathan refuses to allow Karen or anyone else on the medical staff to reveal this diagnosis to Sarah. I believe Jonathan should tell his daughter of his Huntington's disease diagnosis.
Examining this case, one must consider Jonathan's rights, duties, and goals. According to U.S. Department of Health and Human Services, “...the individual (and not the family members included in the medical history) may exercise the rights under the HIPAA Privacy Rule to... the medical record, including ... the ability to authorize disclosure to others.” Legally Jonathan can withhold his diagnosis. Still, Jonathan must contemplate his duties and goals as a father. Klitzman et al. write about patients weighing their personal preferences and desires with their ethical obligations to others (362).
Karen’s role as genetic counselor must also be considered. As stated above, the U.S. Department of Health and Human Services dictates that Karen can not legally share Jonathan’s diagnosis. Her duties include helping Jonathan understand his family’s risk and impartially educating and counseling him. Jonathan must make his own decision, but perhaps Karen’s goal should be to lead Jonathan toward full disclosure. As a genetic counselor, Karen understands how Huntington's disease could impact Sarah.
To arm Sarah with the power of information, Jonathan should share his Huntington's diagnosis. Sarah has a fifty percent chance of inheriting Huntington's disease, and through genetic testing, she could prepare for her future. Klitzman et al. write about families like Jonathan’s, “At times, individuals decided to undergo testing to address adult offsprings’ worries or concerns about reproductive decision” (362). Sarah should make educated choices about how she builds her family. If Sarah has the huntingtin protein IT15, she may choose not to raise children or she may choose to use egg donation or adopt to end the HD cycle in her family. Sarah should know there are new ways to slow disease progress and in the future there could be a cure. “To Test or Not to Test?” reports, “A number of potential therapies have been developed that one day may allow Huntington's disease patients to live longer, more productive, and happier lives after initial symptoms appear… and there is little sign that the scientific activity will slow down” (Lawrence). Sarah should understand if she is positive for the HD gene there is hope.
However, to protect family, some HD patients keep their diagnosis secret; although some argue this is short sighted. If Jonathan tells Sarah, it may prevent her from obtaining insurance. Klitzman et al.’s research describes some patients,“...concerns about family members led some individuals to decide not to test because they felt the result, if mutation-positive, might upset their offspring and create problems when offspring tried to obtain insurance” (362). If Sarah does have Huntington's disease, she will need health insurance to combat the disease. Like insurance, Downing interviewed some families who feared an HD diagnosis could deny the individual a mortgage (228). Jonathan may choose to protect Sarah and allow her pre-symptomatic life to be lived without obstacles.
Jonathan must choose between the lesser of two evils, and I believe he should tell Sarah he has Huntington's disease. If Jonathan does not tell Sarah he has Huntington's disease, he is robbing her of choices. If Sarah does not have Huntington's disease, she can care for her father without concern for her medical future. But, if she does have Huntington's disease, she can prepare. If Sarah chooses genetic testing, she can plan for her future including housing, health care, spouse/partner, and raising children. Regardless of the testing outcome, she can make educated choices. Edward Abbey stated perfectly, “Better a cruel truth than a comfortable delusion,” and Sarah deserves to know of her father’s diagnosis.
Downing, Claudia. “Negotiating Responsibility: Case Studies of Reproductive Decision-Making and Prenatal Genetic Testing in Families Facing Huntington Disease.” SpringerLink, Springer, 3 Nov. 2005, link.springer.com/article/10.1007/s10897-005-0619-3.
HHS Office of the Secretary,Office for Civil Rights, and OCR. “Privacy.” HHS.gov, US Department of Health and Human Services, 16 Apr. 2015, www.hhs.gov/hipaa/for-professionals/privacy/index.html.
Klitzman, Robert, et al. “The Roles of Family Members, Health Care Workers, and Others in Decision-Making Processes about Genetic Testing among Individuals at Risk for Huntington's Disease.” Nature News, Nature Publishing Group, 1 June 2007, www.nature.com/articles/gim200759.
Lawrence, David. “To Test or Not to Test?” Huntington's Disease, Chelsea House, 2009. Health Reference Center, online.infobase.com/Auth/Index?aid=&itemid=WE48&articleId=396764. Accessed 15 Oct. 2018.
Stuttgen K, Dvoskin R, Bollinger J, et al. “Risk perception before and after presymptomatic genetic testing for Huntington’s disease: Not always what one might expect.” Mol Genet Genomic Med. 2018;00:1-8. https://doi.org/10.1002/mgg3.494.