1st Place
Sophia Chen
Lakeside School
Teacher: Dr. Devin Parry
Location: Seattle, Washington
The familial nature of genetic information causes an ethical dilemma regarding the disclosure of such knowledge to biological relatives when a family member is diagnosed with a hereditary disease. One typical example is Huntington’s disease (HD), an autosomal dominant neurodegenerative disorder caused by expansion of the CAG trinucleotide in the huntingtin (HTT) gene(1,2). The mutant HTT gene encodes an abnormal protein which causes the disruption and eventual death of neurons in the brain, leading to movement disorders, psychiatric disturbances, and early death(1). The patient’s decision regarding disclosure may have profound implications for other family members and future generations. Here, I present opposing arguments as to whether the father, Jonathan, should disclose the diagnosis of HD to his daughter, Sarah.
Against Disclosure
For Jonathan, the diagnosis of HD is undoubtedly devastating. As a father, Jonathan may immediately feel a sense of duty to protect Sarah’s right to enjoy her life in “blissful ignorance,” knowing the lack of effective therapy. It is well-documented that predictive genetic testing can cause emotional distress(3). As a patient, Jonathon’s right to privacy regarding his medical information(4) allows him to decide to what extent he would like his family informed. By withholding the information, he realizes his goal to prevent emotional distress among loved ones resulting from knowledge of the dreadful diagnosis.
Sometimes ignorance is preferable to the burden of knowledge, especially in the case of incurable genetic diseases. As someone potentially at risk for HD, Sarah has a right to not know her genetic status and live unencumbered by undesired knowledge. This right is recognized by major international conventions such as UNESCO(5).
As Jonathon’s genetic counselor, Karen has the duty to honor the patient’s right to privacy. According to American Medical Association guidelines, physicians are obliged to hold patient’s medical information strictly confidential, unless consented by the patient or required by law.
Favoring Disclosure
Because of the autosomal dominant inheritance of HD, Sarah has a 50% chance of inheriting the mutation that is almost fully penetrant(1,2). Therefore, it can be argued that Jonathan has the duty to share the information, as it may be of enormous importance for Sarah in deciding major life events in the future. For instance, if Sarah chooses to have children, it would allow her to ensure their health and safety by performing prenatal testing or preimplantation genetic diagnosis. By informing Sarah, Jonathan would accomplish his goal to protect her long-term interests.
Sarah’s risk of disease onset could potentially be as soon as within a few years, depending on a number of factors, particularly the size of the CAG repeat expansion in the mutant allele(6). Sarah has the right to decide whether to pursue genetic testing so that she can make decisions about her future accordingly. However, she can only exercise her autonomy to make such choices if she is informed. Disclosing the information to Sarah would also allow her to better support her father throughout his disease process, which will be especially important due to HD patients’ higher risk of developing severe psychiatric issues(2).
Karen, as a genetic counselor, has a goal to prevent unnecessary harm. While she is bound by provider-patient confidentiality, she has a duty to educate Jonathon about the reason for disclosure, develop strategies to help overcome communication issues, and encourage him to disclose.
Defense for Disclosure
Research shows that a common motivation behind nondisclosure to family members is to prevent emotional suffering and avoid receiving blame(7). This is especially true for patients with HD, for which there has been no curative but rather only symptomatic treatment thus far. However, with the landscape of treatment for HD rapidly changing, the balance between harm and benefit associated with disclosure is also evolving. Several new advances have offered bright hope in the world of HD. For example, a drug in late-stage clinical development called RG6042 has shown the most promise(8), achieving up to 60% decrease of mutant huntingtin protein(8,9). Many others are also encouraging, such as precision targeting of the mutant HTT, RNA interference (AMT-130), VX15 antibody, and novel small molecule (Risdplam)(9,10) . Additionally, the advent of CRISPR gene editing technology offers possibility to permanently inactivate the mutant HTT gene(9-11).
The promising new treatments that may soon become available for HD would greatly help Jonathan to overcome major barriers in disclosing the familial genetic information. Moreover, the accessibility to disease-modifying therapeutics would vastly increase Sarah’s potential benefit from early diagnosis and intervention. Thus, the balance of benefit vs. risk has increasingly shifted in favor of disclosure.
References/citations
- McColgan, P., Tabrizi, S. J. (2018). Huntington’s disease: a clinical review. European Journal of Neurology, 25(1), 24-34.
- Ghosh, R., Tabrizi. S. J. (2018). Clinical Features of Huntington’s Disease. Advances in Experimental Medicine and Biology, 1049,1-28. doi: 10.1007/978-3-319-71779-1
- Codori, A. M., Brandt, J. (1994). Psychological costs and benefits of predictive testing for Huntington’s disease. American Journal of Medical Genetics, 54(3), 174-84.
- Health Insurance Portability and Accountability Act of 1996, Public Law 104-191.
- Andorno, R. (2004). The right not to know: an autonomy based approach. Journal of Medical Ethics, 35(4), 435-440.
- Ahmad Aziz, N., van der Burg, J. M. M., Tabrizi, S. J., Bernhard Landwehrmeyer, G. (2018). Overlap between age-at-onset and disease-progression determinants in Huntington disease. Neurology, 90(24): e2099–e2106. doi: 10.1212/WNL.0000000000005690
- Vavolizza, R. D., Kalia, I., Aaron, K. E., Silverstein, L. B., Barlevy, D., Wasserman, D., Walsh, C., Marion, R. W., and Dolan, S. M. (2015). Disclosing Genetic Information to Family Members about Inherited Cardiac Arrhythmias: An Obligation or a Choice? Journal of Genetic Counseling, 24 (4), 608–615.
- Wild, E. J,, Tabrizi, S. J. (2017). Therapies targeting DNA and RNA in Huntington’s disease. Lancet Neurolology, 16(10), 837-847. doi: 10.1016/S1474-4422(17)30280-6.
- Liam, D. (2018). The big hope for Huntington’s. Nature, 557, S39-S41.
- Kieburtz, K., Reilmann, R., Olanow, C. W. (2018). Huntington’s disease: Current and future therapeutic prospects. Movement Disorders, 33(7), 1033-1041. doi: 10.1002/mds.27363. Epub 2018 May 8.
- Eisensten, M. (2018). To cut is to cure. Nature, 557, S42-S43.
2nd Place
Yanna Bravewolf
The Potomac School
Teacher: Dr. Isabelle Cohen
Location: McLean, Virginia
Huntington’s Disease (HD) is a fatal, autosomal dominant, neurodegenerative disease with no cure. HD is characterized by progressive motor-skill degradation, cognitive impairment, and psychiatric disorders1. The disease is caused by a mutation of the huntingtin (HTT) gene which codes for the huntingtin (HTT) protein1. The mutation is defined by an expansion of a CAG repeat chain in the exon-1 region of the gene1. The symptoms of HD arise due to the toxic effect of the mutated HTT protein on neurons in the basal ganglia, which are brain cells participating in the control of motor functions, cognition and emotion1. Having the faulty gene guarantees the development of HD symptoms on average between the ages of 30 and 502. The children of an afflicted person have a 50% chance of inheriting the mutation from that person1.
A dilemma for a newly-diagnosed individual with children, is whether to inform them of the possibility that they may have inherited the faulty gene. This is the situation facing Jonathan who has decided not to tell his daughter Sarah about his HD.
The difficulty in assessing Jonathan’s decision arises from the conflict between Jonathan’s rights and Sarah’s rights. Jonathan is entitled to keep information about himself secret and may choose to withhold the truth out of a desire to protect Sarah. A parent’s natural duty is to ensure their child’s well-being. Thus, Jonathan may think it his duty to shield Sarah from knowing that she is at risk and from the corresponding emotions of anxiety for the future, feeling overwhelmed by caregiving duties and uncertainty about family planning decisions3,4. Jonathan may wish to attempt to let Sarah live a life unaffected by the reality of HD. He may be worried that Sarah would limit herself from possible opportunities to start a family, or pursue a career in fear that HD would compromise her future.
On the other hand, Sarah has the right to know her own genetic information, because regardless of Jonathan’s wishes, this information will affect her life. In this sense, Jonathan’s parental duty to Sarah dictates that he should empower her by giving her the opportunity to make informed decisions about her future life and family.
Such are the arguments that the genetic counselor Karen may discuss with Jonathan as she attempts to guide his thinking, but ultimately disclosure can and should only happen with Jonathan’s consent. This would be consistent with guidance from both the American Medical Association and The American Society of Human Genetics5.
Telling Sarah about Jonathan’s diagnosis, empowers her by giving her choices. She would be in a position to exercise control over some outcomes of her life, instead of blindly following her fate. One of the most significant issues to people at risk of HD, is the question of having children. Knowing her status, Sarah can choose to utilize preimplantation genetic diagnosis with IVF to ensure that her future children are free from the HD mutation6. Taking advantage of such a technique would effectively end HD in future generations of Jonathan’s family. Also, awareness of being at-risk may give Sarah the incentive to make appropriate financial and healthcare decisions. Finally, Sarah has the option to undergo predictive genetic testing to discover if she carries the mutated HTT gene. This choice is intensely personal and is entirely dependant on her individual psychology.
In addition, there is active ongoing research on ways to slow down or even prevent the onset of HD symptoms. Zinc finger proteins and RNA interference are two methods which aim to reduce the production of the mutated HTT protein at the transcriptional and the translational level, respectively7. Another proposed technique attempts to use the gene editing tool CRISPR to deactivate the mutated HTT gene8. These approaches are still in early experimental stages and are not available to afflicted individuals. However, given Sarah’s relatively young age and the possibility that she may not exhibit symptoms for many years, there is a chance, albeit small, that some technique may become available to her in time. Being aware that she is at risk may ensure that she is informed and could take advantage of such advances in the field of HD.
Jonathan faces a complex personal decision with high stakes. The difficulty of coming to terms with the reality of a devastating disease like HD can be overwhelming. But, ultimately the ability to empower his daughter to make the most of the hand she is dealt should be the definitive factor in deciding to inform Sarah of the truth.
References
Venkateswara, Rao P., et al. “Huntington’s Disease – A Review”, Theranostics of Brain Disorders, 2.2 (2017): 555581-555586.
Roos, Raymond A., “Huntington’s Disease: A Clinical Review”, Orphanet Journal of Rare Diseases, 5 (2010): 40-47.
Williams, Janet K., et al. “The Emotional Experiences of Family Carers in Huntington’s Disease”, Journal of Advanced Nursing, 65.4 (2009): 789-798.
Quaid, Kimberly, A., et al. “What Were You Thinking?: Individuals At Risk for Huntington’s Disease Talk About Having Children”, Journal of Genetic Counseling, 19.6 (2010): 606-617.
Laberge, Anne-Marie and Wylie Burke, “Duty to Warn At-Risk Family Members of Genetic Disease”, American Medical Association Journal of Ethics, 11.9 (2009): 656-660.
Blancato, Jan, K., et al. “Preimplantation Genetics and Other Reproductive Options in Huntington’s Disease”, Handbook of Clinical Neurology, 144 (2017): 107-111.
Huang, Wen-Juan, et al. “Huntington’s Disease: Molecular Basis of Pathology and Status of Current Therapeutic Approaches (Review)”, Experimental and Therapeutic Medicine, 12 (2016): 1951-1956.
Monteys, A.M., et al. “CRISPR/Cas9 Editing of the Mutant Huntingtin Allele In Vitro and In Vivo”, Molecular Therapy, 25.1 (2017): 12-23.
3rd Place
Irene Calderon
The Summit Country Day
Teacher: Mrs. Karen Suder
Location: Cincinnati, Ohio
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.
Citations/References:
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
Honorable Mentions
Emma Gurcan
Partnership for Scientific Inquiry
Teacher: Dr. Tammy Martin
Ethical Issues in Disclosing Huntington’s Disease to Family
Huntington’s disease (HD) is a dominant autosomal disease that manifests with a genetic mutation on the tip of human chromosome 4p (1). No cure currently exists for HD, and symptoms ranging from chorea, personality change, dementia, and caudate and putamen atrophy can severely decrease quality of life. The number of repetitions of trinucleotide CAG on the HTT allele determines the disease’s severity. Anticipation occurs if the paternal transmitter has more than 50 repetitions of CAG, resulting in juvenile-onset for his affected children (1). There are three major components of this ethical dilemma. The first is Sarah’s decisions regarding family planning, the second, the lack of knowledge of the severity of Jonathan’s HD and therefore if it affects his decision making, and finally, the conflict between Sarah’s right to know about her own body and Jonathan’s right to privacy.
Jonathan’s most prevalent right is his right to physician-patient privacy. Legally, Karen cannot disclose information to Sarah without Jonathan’s consent. As outlined in HIPAA guidelines: “if the patient is present and able to make decisions, the provider must (i) obtain the patient’s permission” (2) before disclosing information to family members. Jonathan’s consent to the disclosure of the diagnosis is required. As Dr. Nagaraja notes in her article on HD: “Issues of autonomy need to be addressed not only within the doctor-patient relationship, but also the individual’s social network. Legal issues about the right to information and disclosure are essential” (3). Although the patient’s social network might be impacted by the diagnosis, it is ultimately the patient’s decision whether or not to tell his family. Jonathan’s goal in this situation is not to disclose his diagnosis to Sarah. Therefore this wish must be respected by Karen.
Karen has a duty as a health care provider to respect privacy laws outlined in HIPAA. Karen additionally has a duty to do no harm, but also a duty of beneficence to Jonathan. “The right to know (autonomy), and alternatively not to know, must be judged against the ethical principles of ‘do no harm’ and ‘duty of care’ (beneficence)” (4). It is Karen’s duty to decide whether the potential harm of withholding information from Sarah is more important than respecting Jonathan’s wishes. Ultimately, Karen’s goal is for all parties to live a healthy life. Additionally, Karen must assess the possibility that “cognitive symptoms [are] present which can progress to dementia” (5) and affect Jonathan’s mental fitness and ability to make this decision. Karen must decide what kind of strategies she needs to use to ensure Jonathan’s understanding of the situation. Karen needs to balance her duty as Jonathan’s healthcare provider with her duty to do minimal harm.
Finally, Sarah’s duty is a mother’s duty: to raise healthy children. Her goal is to live a happy life. We don’t know how many CAG repetitions Jonathan has, so it is very possible for her to have juvenile-onset HD. If she becomes pregnant or has kids before she begins to experience symptoms, she could create a stressful and unhealthy environment for her child. Also, Sarah might not want her child to ever have HD. Because her father has HD, and due to the disease’s dominant nature, she has a 50% chance of having the mutation. If she has HD, her child also has a 50% of expressing the mutation (1). If Sarah is informed of the disease, she could choose to exert certain medical options such as Pre-Implantation Genetic Diagnostic with In Vitro Fertilization to ensure that the implanted egg does not carry the genetic mutation (6).
Although Sarah has a right to know about her body, Karen is Jonathan’s genetic counselor so she must respect privacy laws. However to ensure Jonathan understands the gravity of the decision he is making, Karen should use “Teach Back,” a strategy where the patient explains the diagnosis back to the physician. Because of the severity of the disease, and the possibility of more than 50 CAG repetitions resulting in a juvenile-onset for Sarah, Karen should encourage disclosure. However, under no circumstance should Karen disclose the diagnosis without Jonathan’s consent. When one seeks medical attention, privacy laws are crucial to establishing ethical standards for physicians to rely on. Current privacy laws prioritize privacy; however, for cases like these, updating these laws for cases of genetic diseases to warn family members in advance of pregnancy should absolutely be considered, as the consequences of nondisclosure can be calamitous.
Citations/references:
1 : Caron, Nicholas S. “Huntington Disease.” Current Neurology and Neuroscience Reports., U.S. National Library of Medicine, 5 July 2018, www.ncbi.nlm.nih.gov/books/NBK1305/
2 :“HIPAA and Disclosure to Family Members or Others Involved in the Patient’s Care.” Holland & Hart LLP, www.hollandhart.com/hipaa-and-disclosure-to-family-members.
3 : Nagaraja, S., et al. “Perspectives towards predictive testing in Huntington disease.” Neurology India, vol. 54, no. 4, 2006. Health Reference Center Academic, https://link.galegroup.com/apps/doc/A154772015/HRCA?u=
lincolnhs&sid=HRCA&xid=b13007e8
4: McCusker, E., and Loy, C. “Huntington Disease: The Complexities of Making and Disclosing a Clinical Diagnosis After Premanifest Genetic Testing”, U.S. National Library of Medicine, 6 Sept. 2017, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5623754/
5 : “Dementia in Huntington’s Disease – HOPES Huntington’s Disease Information.” HOPES Huntington’s Disease Information, 29 Oct. 2014, https://hopes.stanford.edu/dementia-in-huntingtons-disease/
6 : “Genetic Testing & Family Planning / Prenatal Testing.” Huntington’s Disease Society of America What Is HD Comments,
https://hdsa.org/living-with-hd/genetic-testing-family-planning-prenatal-testing/
Weston Hicks
The Potomac School
McLean, Virginia
Teacher: Dr. Isabelle Cohen
Huntington’s Disease (HD) is a rare, fatal autosomal genetic disorder that causes progressive degeneration of nerves in the brain, eventually killing the host due to complications with the disease.[1] The mutation that causes HD is found on chromosome 4 in the huntingtin gene. While healthy people carry two copies of the gene with 35 or less repetitions of the CAG triplet, Huntington’s disease carriers have 36 or more repetitions of this triplet.[2] Symptoms typically emerge between the ages of 30 and 50 often include mood swings, impaired judgement, slurred speech, deteriorating memory, and chorea, which is an involuntary unpredictable movement disorder. There is no cure for HD, and it is always inherited as the dominant gene from a parent. Offspring of HD patients have a 50% chance of contracting the disease as adults.[3] When a patient like Jonathan undertakes any form of genetic testing, informed consent must be obtained before moving forward with testing. Informed consent is defined as the assent of a competent patient given to a healthcare provider with the understanding of the consequences and/or possible complications in undergoing a procedure.[4] From a genetic standpoint, informed consent is obtained from a patient after a genetic counselor reviews several factors including: how the test will be administered, what the test results mean, whether the results might provide information about other family members’ health (including the risk of developing a particular condition or having affected children), how and to whom test results will be reported, and under what circumstances results can be disclosed. To move forward with testing, the genetic counselor must document the patient’s consent, usually through a signed consent form.[5]
In this case, Jonathan’s desire to conceal his diagnosis from his daughter raises important issues to consider in both support and in opposition of his decision. He can defend his desire to keep his diagnosis confidential under both moral and legal principles. First, he can defend his right to confidentiality by asserting his right to patient autonomy, which is the foundation for informed consent. While Jonathan’s genetic counselor may recommend disclosure to Sarah of his HD, his right to autonomy entitles him to make his own decision and does not morally require him to share the information with Sarah.[6] Jonathan’s decision is further supported by the Hippocratic Oath that provides ethical standards for the medical community, including that confidentiality must always be upheld between the patient and their physician.[7] Second, federal law protects Jonathan’s right to confidentiality in the United States through the Health Insurance Portability and Accountability Act of 1996, 42 U.S.C. § 1320d.-6 (HIPAA). HIPAA provides penalties against his health care providers if they disclose his diagnosis without his permission.[8] On the other hand, the ethical principles of nonmaleficence (“to do no harm”) and beneficence (“do as much good as you can”) may favor disclosure to Sarah.[9] Disclosure to Sarah may enhance Jonathan’s support system as his disease progresses and may improve his longevity and quality of life, upholding the principles of doing no harm and maximizing benefit. Additionally, Jonathan’s judgement may be impaired due to the disease, which may further support disclosure under the theories of nonmaleficence and beneficence as his own decisions may no longer be in his best interest. Finally, while Sarah does not have a direct relationship with her father’s healthcare providers, they may be compelled to disclose the information to her due to her own risks in developing the disease and her interests in planning for the future and possible implications on her children.
Jonathan’s decision to conceal his HD diagnosis from his daughter is supported by his rights to confidentiality, autonomy, the Hippocratic Oath, and HIPAA. These moral and legal principles outweigh his daughter’s right to know his diagnosis under the principles of nonmaleficence and beneficence. Specifically, Jonathan’s right to make his own quality of life decisions outweighs Sarah’s right to know the diagnosis since Sarah cannot use the information to prevent or alter the course of the disease if she is a carrier.[10] The Huntington’s Disease Society of America states that HD is incurable and any treatments are focused on treating the symptoms and not preventing or curing the disease.[11] Under these circumstances, Jonathan’s rights to confidentiality and autonomy cannot be sacrificed for the benefits of disclosing his diagnosis to Sarah because it jeopardizes Jonathan’s trust in the medical system and sacrifices the standard for confidentiality for cases similar to his in the future.
References/citations
[1] “What Is Huntington’s Disease?” Huntington’s Disease Society of America , 2019, www.hdsa.org/what-is-hd/.
[2] Wadman, Meredith. “’I Feel so Much Hope’-Is a New Drug Keeping This Woman’s Deadly Huntington Disease at Bay?” Science Magazine, American Association for the Advancement of Science, 27 Aug. 2018, 14:00,
www.sciencemag.org/news/2018/08/i-feel-so-much-hope-new-drug-keeping-woman-s-deadly-huntington-disease-bay.
[3] “What Is Huntington’s Disease?” Huntington’s Disease Society of America , 2019, www.hdsa.org/what-is-hd/.
[4] De Bord, Jessica. “Informed Consent.” Ethics in Medicine, University of Washington School of Medicine, 7 Mar. 2014, www.depts.washington.edu/bioethx/topics/consent.html#ref1
[5] Id.
[6] Sedig, Laura. “What’s the Role of Autonomy in Patient- and Family-Centered Care When Patients and Family Members Don’t Agree?” Journal of Ethics | American Medical Association, American Medical Association, 1 Jan. 2016, www.journalofethics.ama-assn.org/article/whats-role-autonomy-patient-and-family-centered-care-when-patients-and-family-members-dont.
[7] “From the Hippocratic Oath to HIPAA: A History of Patient Privacy.” Becker’s Health IT & CIO Report, ASC Communications, 19 Aug. 2016, www.beckershospitalreview.com/healthcare-information-technology/from-the-hippocratic-oath-to-hipaa-a-history-of-patient-privacy.html.
[8]Id.
[9] The Ethics Centre. “Big Thinkers: Thomas Beauchamp & James Childress on Medical Ethics.” The Ethics Centre, 15 Aug. 2017, www.ethics.org.au/on-ethics/blog/august-2017/thomas-beauchamp-james-childress-medical-ethics.
[10] “What Is Huntington’s Disease?” Huntington’s Disease Society of America , 2019, www.hdsa.org/what-is-hd/.
[11] Id.
Alex Hu
Darien High School
Darien, Connecticut
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.
Citations/references:
“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.
Sydney Kim
Convent of the Sacred Heart
Greenwich, Connecticut
Teacher: Dr. Kristina Gremski
In a fictional scenario, Jonathan, age 50, was recently diagnosed with Huntington’s disease (HD) and will not allow his genetic counselor Karen to disclose this diagnosis to his 25-year-old daughter, Sarah. Karen should strongly encourage Jonathan to share his diagnosis with Sarah, but, if he continues to refuse, she has the moral duty to tell Sarah herself.
Ideally, Jonathan would fulfill his parental duty to care for Sarah’s health and needs by disclosing his diagnosis to Sarah. HD is a an untreatable, progressive genetic disease caused by a dominant mutation in the huntingtin gene. Sarah has a 50% chance of inheriting the mutant allele, and, if she does have it, her own children will have a 50% chance of inheriting it. HD is caused by extra repeats of the nucleotides C, A, and G on the huntingtin gene, which normally has 9 to 35 CAG repeats. Known as an insertion mutation, it can change the shape and, consequently, the function of the huntingtin protein, thus determining the severity of an individual’s symptoms. The abnormally-shaped huntingtin interacts with proteins that cut it in two, allowing a portion of huntingtin to enter the nucleus of the neuron. Researchers believe that these huntingtin proteins destroy the brain cells, which leads to a range of symptoms including involuntary movements, depression, and memory loss (“Huntington Disease”). The number of CAG repeats in the mutant huntingtin allele tends to increase with each generation, so, if Sarah does have HD, she is likely to suffer from more severe symptoms than Jonathan will. It will change the course of her life, and she has the right to know her medical condition.
Jonathan, however, may have specific goals in mind in keeping his medical information private. His right to parent as he sees fit might include the goal of protecting Sarah from conditions such as depression and allowing Sarah to live her life without fear. Furthermore, he may wish to keep his information private to prevent his friends, family, and coworkers from viewing him differently. In addition to these personal goals, Jonathan has the legal right to privacy under the HIPAA Privacy Rule. This law protects Jonathan’s privacy and states that Karen, too, has the legal duty to keep his information confidential (“Summary of the HIPAA”). Although Karen’s duty as a healthcare provider is to keep the medical information of her patients private, her overall goal is to protect as many people as she can while improving people’s health and quality of life. As Jonathan’s genetic counselor, Karen’s duty is to guide him to share his diagnosis with Sarah (McCabe et al.), hopefully leading to an outcome that aligns with Karen’s goals without requiring her to break the law.
Furthermore, Sarah has the right to know her medical information to make educated personal decisions. One of Sarah’s goals may be trying to start a family, and she has the right to know the medical consequences of reproduction. This knowledge could change Sarah’s decision to have children or lead her to look into in vitro fertilization and preimplantation genetic diagnosis options to avoid passing down HD to future generations. Furthermore, Sarah’s career path could be completely reshaped by a HD diagnosis. If, for example, Sarah wants to become a surgeon, her undiagnosed symptoms could put her patients’ lives at risk.
Thus, the moral duty to protect Sarah’s future children overrides Jonathan’s right to confidentiality. Although Karen has a legal duty to protect Jonathan’s confidentiality, there is a precedent for breaking patient confidentiality. Patient confidentiality is not an absolute right, and public health laws “require the breaking of [medical] confidentiality to prevent an individual from harming [. . .] a third party” (Zalot and Guevin). Likewise, law requires that confidentiality be broken in court cases (Peel). This right generally applies to patients who are suicidal, have contagious diseases, or are directly threatening harm to others. While HD is not contagious, Sarah’s future children would be members of an endangered third party, thus justifying Karen’s disclosure of Jonathan’s medical information to Sarah. Truly, it is Jonathan’s duty to inform Sarah of his condition, but, if he continually refuses to do so, Karen becomes responsible for the disclosure. Morally, it is necessary for Sarah to know of Jonathan’s diagnosis as she has the right to know the details of her own medical situation, to make responsible life and career decisions, to protect her future children, and to prepare to care for Jonathan in the years to come.
Citations/references:
“Huntington Disease.” Your Genes Your Health, Cold Spring Harbor Laboratory, www.ygyh.org/hd/whatisit.htm. Accessed 11 Feb. 2019.
McCabe, Mary S., RN, MA, et al. “When the Family Requests Withholding the Diagnosis: Who Owns the Truth?” Journal of Oncology Practice, Mar. 2010, doi:10.1200/JOP.091086. Accessed 11 Feb. 2019.
Peel, Michael, MBBS DMJ. “Human Rights and Medical Ethics.” Journal of the Royal Society of Medicine, Apr. 2005, doi:10.1258/jrsm.98.4.171. Accessed 11 Feb. 2019.
“Summary of the HIPAA Privacy Rule.” U.S. Department of Health & Human Services, May 03, www.hhs.gov/hipaa/for-professionals/privacy/laws-regulations/index.html. Accessed 11 Feb. 2019.
Zalot, Josef D., and Benedict Guevin, OSB. Catholic Ethics in Today’s World. Rev. ed., Saint Mary’s Press, 2008.
Work Consulted
“Thinking about Ethical Questions.” Essays: Hard Choices. Basic Genetics: A Human Approach
Student Edition, 3rd ed., Kendall Hunt Publishing, 1998, pp. 46-48. Biological Sciences Curriculum Studies.
Katherine Lei
Montgomery Blair HS
Silver Spring, Maryland
Teacher: Ms. Darcy Sloe
With the modern innovations in technology, genetic testing is becoming increasingly powerful. But intricate ethical dilemmas arise from its rapidly expanding capabilities, especially in the case of incurable diseases like the fatal neurodegenerative Huntington’s disease (Coppen, 2017). Huntington’s disease presents with slight mood changes and mental problems, but later progresses to movement disorders and more pronounced cognitive decline. Typical symptoms include difficulty talking and involuntary jerking movements known as chorea. Patients lack awareness, have difficulty planning, and have impaired memory (Dayalu, 2015). Additionally, its peripheral complications include reduced strength and increased kynurenine to tryptophan ratio, which is associated with aging and is also seen in patients with major depression (Carroll, 2015). Huntington’s disease will ultimately lead to dementia and death.
In the presented situation, Jonathan wishes to prevent his daughter Sarah from hearing about his diagnosis; he forbids Karen, his genetic counselor, to reveal the information. Conflicting goals, rights, and duties of the three parties add subtlety to this dilemma. Jonathan’s goal is shielding Sarah from knowing that he has Huntington’s so she can live without the burden of seeking treatment and caring for him. Furthermore, by suppressing the knowledge from Sarah, she will not be plagued with the worry that she may have Huntington’s disease. Jonathan also has the right to keep his personal information private. Arguably, Jonathan has the obligation to inform his daughter; however, he believes his duty is protecting Sarah from knowing about his condition.
Many of Karen’s considerations directly contradict Jonathan’s. As a genetic counselor, her goal is ensuring that Jonathan’s daughter has adequate information so Sarah can live the best possible life, but she must weigh Jonathan’s right to privacy and Sarah’s right to know. Karen may believe that her duty is serving her client by complying with his choice, or she may want to ensure Sarah’s welfare by informing her.
Taking all these factors into account, Karen should let Sarah know about Jonathan’s diagnosis as the potential benefits exceed the costs. The few benefits Jonathan derives from withholding the information include personal privacy and the wish to protect his daughter, which do not outweigh Sarah’s right to know and the possible tremendous effect on her life. Because the inheritance pattern of Huntington’s is autosomal dominant, there is a 50% chance that Sarah will have the disease later in life. This could greatly impact her future plans, as she will be starting a family soon. The earlier Sarah knows about her father’s diagnosis, the earlier she can be tested, enabling her to make informed choices about her future. Additionally, Jonathan is her father: because of their interactions, Sarah will find out about his illness, regardless of whether he tells her. Disclosing the information as soon as possible will make things easier for both of them in the long run.
Moreover, Huntington’s disease has an interesting mechanism of action. It is caused by a trinucleotide expansion of CAG in the huntingtin gene on chromosome 4—normally, there are fewer than 26 repeats, but in patients with Huntington’s, this number increases to more than 40, leading to deleterious effects on neuron stability. Huntington’s disease exhibits a relevant phenomenon called anticipation, in which offspring who inherit Huntington’s have an earlier onset of the disease than the parent due to increased CAG repeats. Although the age of onset in offspring is about the same as affected mothers, offspring of affected fathers fall in two groups—one in which the age of onset is slightly younger than the father, and another in which the age of onset is, on average, 24 years younger (Ridley, 1988). This is a startling fact. Sarah could develop Huntington’s in just a few years if she falls in that unfortunate group. Because of this, it is even more critical that Jonathan informs her.
There are numerous questions to consider in the case of the incurable Huntington’s disease. In Karen’s situation, it is important to inform Sarah so she can be tested. If a doctor or counselor knows that someone is at reasonable risk for a disease, it is always the right of the person to know. Concealing information is comparable to harming a patient—maleficence—which is against a central tenet of medicine (Beauchamp, 2009). As a counselor, Karen should tell Sarah about the diagnosis if Jonathan refuses to. Jonathan can choose to withhold the information, possibly causing an unnecessary burden for Sarah, or he can reveal his condition and respect her right to know. Ultimately, the right choice is to tell.
Citations/references:
Beauchamp, T. L., & Childress, J. F. (2009). Principles of biomedical ethics. New York: Oxford University Press.
Carroll J. B., et al. Treating the whole body in Huntington’s disease. Lancet Neurol. 2015 Nov;14(11):1135-42. doi: 10.1016/S1474-4422(15)00177-5.
Coppen E. M., Roos R. A. C. Current pharmacological approaches to reduce chorea in huntington’s disease. Drugs. 2017;77:29–46. doi: 10.1007/s40265-016-0670-4.
Dayalu P., Albin R. L. Huntington disease: Pathogenesis and treatment. Neurol. Clin. 2015;33:101–114. doi: 10.1016/j.ncl.2014.09.003.
Ridley R. M., Frith C. D., Crow T. J., Conneally P. M. Anticipation in Huntington’s disease is inherited through the male line but may originate in the female. J Med Genet. 1988;25:589–595.
Shelli Lewis
Los Altos High School
Los Altos, California
Teacher: Mrs. Lisa Cardellini
Recently, a lawsuit in London was filed involving the genetic disclosure of Huntington’s disease (HD), a fatal, genetically inherited disorder that causes worsening breakdown of the nerve cells in the brain (What is HD?). In the progressive breakdown of these cells, patients experience many behavioral, cognitive and motor related symptoms such as anxiety, hallucinations, aggression, memory loss, and communication struggles (Liou, 2010). One of the most well-known symptoms is chorea, a disorder of the nervous system which brings uncontrolled, repetitive movements. The court case involved a man who was diagnosed as having HD, and his daughter, who he refused to inform, despite her risk of inheriting the gene. After eventually being told, the woman took the genetic test and learned that she will develop the condition, and that her newborn daughter has a fifty percent chance of inheriting the gene (Mackle, 2018). The case raised many ethical questions about the duties of clinicians to both patients and relatives. Does confidentiality outweigh the duty to warn? Do relatives have the right to be informed even against the patient’s wishes? These types of questions also need to be considered in the fictional case about Jonathan and Sarah, in which the father refuses to tell his children of his diagnosis.
Some argue against disclosing private information to the family citing respect for a patient’s autonomy and medical privacy. While HIPAA (Health Insurance Portability and Accountability Act) laws already protect the privacy of patients, in the Pate vs. Threlkel case, which was decided in 1995 by the Florida Supreme Court, the judges maintained that physicians have a duty to warn relatives but that “warning the patient will satisfy the duty to warn” (Pate vs. Threlkel). This means that the doctor has a duty to warn only the patient of their relatives’ risk. Some argue that many at risk individuals choose not to take the genetic test in order to avoid stress about the impending condition. Less than 20% of people who have a risk of inheriting HD choose to take predictive testing (Guidelines for Genetic Testing of Healthy Children). It is entirely possible that Jonathan, the fictional patient with HD, wanted to spare his daughter from this stress before she has her own family.
There are, however, many arguments that support the disclosure of this type of genetic information to the patient’s blood relatives. In the London case, her main justification for suing the medical staff was that in learning about this diagnosis after giving birth, she put even more people at risk of inheriting this disease. One study found that one third of HD carrier couples chose not to have children at all and one third chose to have prenatal diagnosis (Evers-Kiebooms, 1998). Also, by knowing about their diagnosis, people could consider participating in research studies. In 2017, Sarah Tabrizi presented the first human trial of a drug that silences the HD gene (Porter, 2017). Notifying Jonathan’s daughter could allow her to participate in research and, should a cure be developed, receive earlier treatment. According to the American Society of Human Genetics, although the general rule of confidentiality applies to all medical cases, one of the few exceptions states that disclosure is permitted when “the harm that may result from failure to disclose should outweigh the harm that may result from disclosure” (1998). This idea ties into the ethical principle of maximizing beneficence or minimizing harms. While some argue that knowledge of a risk of such a detrimental disease could cause unnecessary anxiety, one study found that 78% of people believed that they should be informed and 22% did not have a particular opinion (Porteous et al, 2003). In other words, most people would rather be informed.
In my opinion, the genetic counselor in this fictional case should tell Sarah about her father’s diagnosis. Research shows that often times, a patient’s decision to hide the diagnosis from their relatives is partially due to their HD stage. In one study, people in the preclinical stage said their greatest concerns were how their diagnosis would affect relationships with and support from family (Ho, Hocaoglu, 2011). It is possible that Jonathan is afraid or has “not yet fully accepted the implications of the diagnosis” (Wusthoff, 2003). Providing him more time, information, and counseling to help him process the diagnosis could result in his agreeing to inform his family. Given medical developments are constantly being made, the benefits to Sarah of being informed outweigh concerns about confidentiality.
Citations/references:
Evers-Kiebooms, Gerry, and Marleen Decruyenaere. “Predictive Testing for Huntington’s Disease: a Challenge for Persons at Risk and for Professionals.” Patient Education and Counseling, vol. 35, no. 1, Sept. 1998, pp. 15–26., doi:10.1016/s0738-3991(98)00086-x
Florida., C o. Pate v. Threlkel. U.S. National Library of Medicine, 20 July 1995, www.ncbi.nlm.nih.gov/pubmed/12041297.
Godard, Béatrice, et al. “Guidelines for Disclosing Genetic Information to Family Members: From Development to Use.” Familial Cancer, vol. 5, no. 1, Feb. 2006, pp. 103–116., doi:10.1007/s10689-005-2581-5.
“Guidelines for genetic testing of healthy children” Paediatrics & Child Health vol. 8,1 (2003): 42-52.
Ho AK, Hocaoglu MB; for the European Huntington’s Disease Network Quality of Life Working Group. Impact of Huntington Disease across the entire disease spectrum: The phases and stages of disease from the patient perspective. Clin Genet. 2011 Jul 8.
Liou, Stephanie. “Symptoms Archives – HOPES Huntington’s Disease Information.” HOPES Huntington’s Disease Information, Huntington’s Outreach Project For Education at Stanford, 2010, hopes.stanford.edu/category/science-of-hd/hd-basics/symptoms/.
Mackle, Eleanor. “Woman Sues UK Hospital Over Huntington’s Inheritance.” RNA Editing Tools Could Create New Disease Therapies – BioNews, BioNews, 3 Dec. 2018, www.bionews.org.uk/page_140188
Porteous, M, et al. “Is It Acceptable to Approach Colorectal Cancer Patients at Diagnosis to Discuss Genetic Testing? A Pilot Study.” British Journal of Cancer, vol. 89, no. 8, 20 Oct. 2003, pp. 1400–1402., doi:10.1038/sj.bjc.6601332
Porter, Julie. “Biggest News in Huntington’s Disease Research since the Identification of the HD Gene!” Hereditary Disease Foundation, Hereditary Disease Foundation, 12 Dec. 2017, www.hdfoundation.org/research-news/2017/12/12/biggest-news-in-huntingtons-disease-research-since-the-identification-of-the-hd-gene.
Professional Disclosure of Familial Genetic Information. American Society of Human Genetics, 1998, new.ashg.org/pdf/policy/ashg_ps_february1998.pdf
“What Is Huntington’s Disease?” Huntingtons Disease Society of America What Is HD , Huntingtons Disease Society of America, hdsa.org/what-is-hd/.
Wusthoff, Courtney. The Dilemma of Confidentiality in Huntington Disease. University of California, San Francisco, School of Medicine, 3 Sept. 2003, web.mit.edu/7.72/restricted/readings/EthicsHuntington.pdf
Grace McDevitt
Convent of the Sacred Heart
Greenwich, Connecticut
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.
Citations/references:
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.
2019.
Edward Tucker Scott
Ranney School
Tinton Falls, New Jersey
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.
Works Cited
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.
Sarina Smith
Plymouth Whitemarsh High School
Plymouth Meeting, Pennsylvania
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.
Works Cited
(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.
Shifa Somji
Newport High School
Bellevue, Washington
Teacher: Ms. Margaret Will
A Physician’s Ethical Dilemma in Disclosing Familial Genetic Risks
Huntington’s Disease (HD) is an inherited and incurable disease that causes progressive degeneration of the brain’s nerve cells. It is caused by an HTT gene mutation which involves a DNA segment known as CAG (cytosine, adenine, and guanine) trinucleotide. While a normal HTT gene contains ten to thirty-five repeats of CAG trinucleotide, a defective gene contains forty or more repeats (National Institute of Health). Since a patient only needs one copy of the defective gene from either parent to develop HD, each child in the family has a fifty percent chance of inheriting the disease. HD has a prominent impact on the patient’s functional abilities, resulting in the motor, behavioral, and cognitive disorders. While medications help with the symptoms, especially with an early diagnosis, the progressive nature of the disease usually results in death within twenty years after signs and symptoms begin (Mayo Clinic). As HD can be diagnosed by genetic testing before the advent of symptoms, physicians face an ethical dilemma in the disclosure of testing results to the patient and family. In this particular dilemma where a father (Jonathan, age: 50), with just diagnosed HD, refuses to inform his daughter (Sarah, age: 25) of his condition, the physician must carefully balance the goals, rights, and duties of both the father and the daughter, as well as his professional and legal responsibilities, before deciding to honor Jonathan’s requests and maintain the confidentiality of his diagnosis.
Jonathan’s refusal to disclose his diagnosis to his daughter is based on his goals of retaining his autonomy and protecting his daughter. To achieve his goals, Jonathan is exercising his rights of confidentiality from his physician. Jonathan has a clear right to choose whether to share his diagnosis with Sarah and the extent he would like her involved in the matter. Finally, he must decide between his conflicting duties of full disclosure to Sarah to allow her to make her personal health decisions with his paternalistic duties of protecting her from the negative consequences of potential diagnosis at a young age, which may include anxiety, depression, and even suicide attempts.
Since Sarah is a silent party in this dilemma, the physician must decipher and safeguard her goals, rights, and duties. As ruled by the United Kingdom’s Court of Appeal in ABC v St George’s Healthcare (Chico), the physician could argue that Sarah’s primary goal is to exercise self-determination in making health decisions. As such, she has the right to know her own risks of HD which could affect her plans of starting a family. If diagnosed with the disease, she may choose not to have children of her own or do so only after prenatal diagnosis. Her primary duty, hence, is to ensure that her future family is not burdened with HD and appropriate protective measures are in place in case she carries the disease.
The physician’s goals in this dilemma include keeping Jonathan’s trust and the request for confidentiality as well as ensuring that Sarah is fully informed in her health decisions. He must adhere to his professional duties, as governed by the American Medical Association’s policies on disclosure of familial risk in genetic testing (Schleiter), and his legal duties, as governed by the Health Insurance Portability and Accountability Act (Black, Simard and Knoppers). Both organizations advocate strict non-disclosure policies unless a serious and imminent threat can be averted by breaking physician-patient confidentiality.
Before deciding on the presented ethical dilemma, the physician should choose to obtain Jonathan’s informed consent by discussing the benefits of giving Sarah full information and a possible earlier diagnosis. If Jonathan still chooses to pursue his goals of ensuring that Sarah leads a normal life for as long as possible, the physician must weigh the possible consequences of the disease on Sarah’s life. Since HD cannot be prevented or cured, an earlier diagnosis does not avoid any imminent threat to Sarah’s life. She may prefer not to be diagnosed clinically with little or no impact on her daily life for years to come. She may easily choose to live the prime of her life without associated anxiety and distress. Hence, without any serious threats to Sarah’s life, as outlined by the physician’s professional and legal duties, the physician must honor his duties to Jonathan by respecting physician-patient confidentiality. While he is failing to safeguard Sarah’s goals and his duties of disclosure with this decision, he is upholding his ethical responsibilities and reinforcing his physician-patient relationships with both Jonathan and Sarah.
References
Black, L, J Simard and BM Knoppers. “Genetic testing, physicians and the law: will the tortoise ever catch up with the hare?” PubMed (2010): 115-120. Electronic.
Chico, Victoria. ABC v St George’s Healthcare NHS Trust: an arguable duty to disclose familial genetic risks. 10 July 2017. Electronic. 2 January 2019.
Mayo Clinic. Huntington’s Disease. 16 May 2018. Electronic. 2 January 2019.
National Institute of Health. Genetics Home Reference. 8 January 2018. Electronic. 2 January 2019.
Schleiter, Kristin E. “A Physician’s Duty to Warn Third Parties of Hereditary Risk.” American Medical Association Journal of Ethics (2009): 697-700. Electronic.
Manu Sundaresan
Winston Churchill High School
Potomac, Maryland
Teacher: Mr. Jonathan Lee
With the advancement of genetic testing and medical techniques, the ability to detect and diagnose neurodegenerative diseases has improved greatly. Huntington’s disease (HD) is one such chorea that is characterized by its autosomal dominance, lower age-of-death, and high suicide rate among those afflicted (1). Simultaneously, the ethical questions related to these debilitating diseases bring patients and genetic counselors into quandaries.
HD is genetic and fully penetrant with no therapeutic options available yet. Inheriting a single allele from an afflicted parent ensures development of HD in offspring. The onset of HD typically occurs between 30 to 50 years of age and shortens lifespan with variation in probability of age of death related to the CAG-repeat length mutations within the huntingtin (HTT) gene (2). Leading causes of death are pneumonia, followed by suicide (1).
The complexity of Jonathan’s case is threefold; the ethical considerations and rights of all three involved parties must be considered. Although Jonathan is legally entitled to the privacy of his medical information, his reasoning may be significantly more complex. Jonathan’s concerns are likely personal; refusing to inform his daughter (Sarah) would relieve any psychological trauma she may experience as a result of this knowledge. Huntington’s, as a neurodegenerative disease, comes with a financial as well as emotional toll. In a 1,272 patient study, mean total annualized cost under commercial insurance was $4947-$22,582 (early-late stage) and $3257-$37,495 (early-late stage) under Medicaid (4). Patients afflicted with HD require care and supervision due to loss of motor function, accompanying dementia, and increased risk of suicide (1). Conversely, there are compelling arguments to be made against Jonathan’s position. The risk of transmission of the HD allele, 50%, is sufficient to immediately presuppose genetic testing for Sarah to determine presence of Huntington’s, length of mutation, and proactively review options with a genetic counselor (1).
In order to follow the ethically justifiable option, Jonathan should act to share his diagnosis with Sarah. As a parent, Jonathan has an obligation to inform his daughter of the risks his genetic background has engendered against her health. The deontological background of this decision is readily and logically supported by the medical aspects of HD. Due to the severity of the condition, as well as the insights that genetic testing could provide (presence of the mutation and CAG-repeat extension status related disease severity), informing Sarah immediately would allow her to determine her own choices regarding her health. By depriving Sarah of the information of diagnosis, Jonathan is removing her autonomy and ability to execute more informed decisions. Due to the legal limitations of patient information security, the genetic counselor (Karen) would not be able to share the diagnosis with Sarah. The medical staff should instead seek to involve Sarah and explain to Jonathan on a patient-practitioner basis the value of informing Sarah. While it is the duty of the genetic counselors to respect the patient’s wishes, there is a simultaneous, implied onus upon them to carry out their duties as medical professionals and help mitigate the family risks and further suffering associated with the disease. In the familial aspect of the patient’s condition, common pressures that the medical staff feel to disclose information to family members include the “perceived need or obligation to disclose” and the “fear that the relative carries a reproductive risk” (3). Jonathan’s case includes both aspects, which would facilitate a response by the medical staff to disclose his condition to his daughter. Beyond that, the relevance of the diagnosis to any children Sarah may have (or decide to have) based on the information, as a potential carrier of the HD allele would outweigh Jonathan’s concern and expand the impact of Jonathan’s status as an HD carrier. The knowledge would also allow Sarah to consider potential clinical trials aimed at mitigating HD (6). In a small study, HD has been determined to have a “considerable impact… on the motor and psychological functions” and the clinical dimensions of “precise movement, depression/anxiety, and function were the most altered” (7). This negative impact on health could be avoided for future generations. According to the norms of parental obligation, the rights of Sarah, and the potential to reduce or prevent human suffering, Jonathan should disclose his diagnosis to his daughter and utilize the opportunity presented by modern genetic advancements to improve the lives of those around him.
Citations/references:
1) Harper, Ben. “Huntington disease” Journal of the Royal Society of Medicine vol. 98,12 (2005): 550. doi: 10.1258/jrsm.98.12.550.
2) Keum, Jae Whan et al. “The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease” American Journal of Human Genetics vol. 98,2 (2016): 287-98. doi: 10.1016/j.ajhg.2015.12.018.
3) Gallo, Agatha M et al. “Disclosure of genetic information within families” American Journal of Nursing vol. 109,4 (2009): 65-9. doi: 10.1097/01.NAJ.0000348607.31983.6e.
4) Divino, V. et al. “The direct medical costs of Huntington’s disease by stage. A retrospective commercial and Medicaid claims data analysis” Journal of Medical Economics vol. 16,8 (2013): 1043-50. doi: 10.3111/13696998.2013.818545.
5) Bertram, Lars and Rudolph E Tanzi. “The genetic epidemiology of neurodegenerative disease” Journal of Clinical Investigation vol. 115,6 (2005): 1449-57. doi: 10.1172/JCI24761.
6) Rodrigues, Filipe et al. “Huntington’s Disease Clinical Trials Corner: January 2019” Journal of Huntington’s Disease vol. 8,1 (2019): 115-25. doi:10.3233/JHD-190001.
7) Dorey, Julie et al. “The quality of life of Spanish patients with Huntington’s disease measured with H-QoL-I and EQ-5D” Journal of Market Access & Health Policy vol. 4,10 (2016). doi: 10.3402/jmahp.v4.27356.