Motivation vs. Hopelessness: The Well-Being Following Predictive Testing for Huntington’s Disease

Authors

  • Ianna Lee Dominican Academy
  • Angela Bongiovanni University of Pennsylvania

DOI:

https://doi.org/10.47611/jsrhs.v12i4.5783

Keywords:

Huntington's Disease, Gene-positive, Predictive testing, Presymptomatic, Young adults, Motivation, Hopelessness, Genetic counseling, Decisional regret

Abstract

Predictive genetic testing for Huntington’s Disease, a fatal and progressive neurodegenerative disorder with no cure, can lead to a multitude of favorable and unfavorable responses, impacts, and experiences. Utilizing many qualitative studies, participants’ reactions to their gene-positive test results were categorized into the opposing psychological states of motivation vs. hopelessness. Key milestones of adulthood, such as education and career, romantic and familial relationships, reproductive choices, and financial investments, were used as metrics for the two categories. By studying the psychological well-being of at-risk individuals for Huntington’s, this literature review also argues for the use and improvement of long-term, tailored genetic counseling.

Downloads

Download data is not yet available.

Author Biography

Angela Bongiovanni, University of Pennsylvania

Ph.D. student in Neuroscience Graduate Group

References or Bibliography

Bailey, R., & Pico, J. (2023). Defense Mechanisms. In StatPearls. StatPearls Publishing. https://pubmed.ncbi.nlm.nih.gov/32644532/

Bernhardt, B. A., Biesecker, B. B., & Mastromarino, C. L. (2000). Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. American journal of medical genetics, 94(3), 189–197. https://pubmed.ncbi.nlm.nih.gov/10995504/

Bonham, V. L., Jr.. (2023). Genetic Discrimination. National Human Genome Research Institute. https://www.genome.gov/genetics-glossary/Genetic-Discrimination

Cofer, C. N., & Petri, H. L. (2023, April 27). Motivation. Encyclopedia Britannica. https://www.britannica.com/topic/motivation

Drinkwater, K., Denovan, A., Dagnall, N., & Williams, C. (2023). The General Hopelessness Scale: Development of a measure of hopelessness for non-clinical samples. PloS one, 18(6), e0287016. https://doi.org/10.1371/journal.pone.0287016

Dufrasne, S., Roy, M., Galvez, M., & Rosenblatt, D. S. (2011). Experience over fifteen years with a protocol for predictive testing for Huntington disease. Molecular genetics and metabolism, 102(4), 494–504. https://doi.org/10.1016/j.ymgme.2010.12.001

Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., Rogers, J. G., & Delatycki, M. B. (2007). "Holding your breath": interviews with young people who have undergone predictive genetic testing for Huntington disease. American journal of medical genetics. Part A, 143A(17), 1984–1989. https://doi.org/10.1002/ajmg.a.31720

Evans, J. P., Skrzynia, C., & Burke, W. (2001). The complexities of predictive genetic testing. BMJ (Clinical research ed.), 322(7293), 1052–1056. https://doi.org/10.1136/bmj.322.7293.1052

Gargiulo, M., Lejeune, S., Tanguy, M. L., Lahlou-Laforêt, K., Faudet, A., Cohen, D., Feingold, J., & Durr, A. (2009). Long-term outcome of presymptomatic testing in Huntington disease. European journal of human genetics : EJHG, 17(2), 165–171. https://doi.org/10.1038/ejhg.2008.146

Gong, P., Fanos, J. H., Korty, L., Siskind, C. E., & Hanson-Kahn, A. K. (2016). Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors. Journal of genetic counseling, 25(6), 1188–1197. https://doi.org/10.1007/s10897-016-9951-z

Hagberg, A., Bui, T. H., & Winnberg, E. (2011). More appreciation of life or regretting the test? Experiences of living as a mutation carrier of Huntington's disease. Journal of genetic counseling, 20(1), 70–79. https://doi.org/10.1007/s10897-010-9329-6

Huntington’s Disease Society of America. (2016). Genetic Testing Protocol For Huntington’s Disease. HDSA, 1-20. http://hdsa.org/wp-content/uploads/2015/02/HDSA-Gen-Testing-Protocol-for-HD.pdf

Huntington’s Disease Society of America. (2020, November 6). Overview of Huntington’s Disease. HDSA, https://hdsa.org/what-is-hd/overview-of-huntingtons-disease/

Keenan, F. K., McKee, L., & Miedzybrodzka, Z. (2015). Help or hindrance: young people's experiences of predictive testing for Huntington's disease. Clinical genetics, 87(6), 563–569. https://doi.org/10.1111/cge.12439

Lewis, R. G., & Simpson, B. (2023). Genetics, Autosomal Dominant. In StatPearls. StatPearls Publishing. https://pubmed.ncbi.nlm.nih.gov/32491444/

MacLeod, R., Beach, A., Henriques, S., Knopp, J., Nelson, K., & Kerzin-Storrar, L. (2014). Experiences of predictive testing in young people at risk of Huntington's disease, familial cardiomyopathy or hereditary breast and ovarian cancer. European journal of human genetics : EJHG, 22(3), 396–401. https://doi.org/10.1038/ejhg.2013.143

Mandal, Ananya. (2019, February 26). Huntington's Disease History. News-Medical, https://www.news-medical.net/health/Huntingtons-Disease-History.aspx

Marchetti, I., Alloy, L.B. & Koster, E.H.W. (2023). Breaking the Vise of Hopelessness: Targeting its Components, Antecedents, and Context. J Cogn Ther. https://doi.org/10.1007/s41811-023-00165-1

Massey, M., Orem, T., & Sung, V. (2021). Cost of Predictive Genetic Testing for Huntington’s Disease at Centers of Excellence in the US. MDS Abstracts, https://www.mdsabstracts.org/abstract/cost-of-predictive-genetic-testing-for-huntingtons-disease-at-centers-of-excellence-in-the-us/

Matz, O. C., & Spocter, M. (2022). The Effect of Huntington's Disease on the Basal Nuclei: A Review. Cureus, 14(4), e24473. https://doi.org/10.7759/cureus.24473

McColgan, P., & Tabrizi, S. J. (2018). Huntington's disease: a clinical review. European journal of neurology, 25(1), 24–34. https://doi.org/10.1111/ene.13413

MedlinePlus. (2021, July 28). What is genetic discrimination? MedlinePlus, National Library of Medicine. https://medlineplus.gov/genetics/understanding/testing/discrimination/#:~:text=Genetic%20discrimination%20occurs%20when%20people,among%20people%20considering%20genetic%20testing

MedlinePlus. (2021, July 28). What is genetic testing? MedlinePlus, National Library of Medicine. https://medlineplus.gov/genetics/understanding/testing/genetictesting/

Meiser, B., & Dunn, S. (2000). Psychological impact of genetic testing for Huntington's disease: an update of the literature. Journal of neurology, neurosurgery, and psychiatry, 69(5), 574–578. https://doi.org/10.1136/jnnp.69.5.574

National Institute of Neurological Disorders and Stroke. (2023). Huntington’s Disease. U.S. Department of Health and Human Services, https://www.ninds.nih.gov/health-information/disorders/huntingtons-disease

Novak, M. J. U., & Tabrizi, S. J. (2010). Huntington’s disease. BMJ: British Medical Journal, 341(7762), 34–40. http://www.jstor.org/stable/20734704

O’Connor, A. M. (1996). User Manual - Decision Regret Scale. Ottawa: Ottawa Hospital Research Institute, 3 p. https://decisionaid.ohri.ca/docs/develop/User_Manuals/UM_Regret_Scale.pdf

Pulst S. M. (1999). Genetic linkage analysis. Archives of neurology, 56(6), 667–672. https://doi.org/10.1001/archneur.56.6.667

Reiner, A., Dragatsis, I., & Dietrich, P. (2011). Genetics and neuropathology of Huntington's disease. International review of neurobiology, 98, 325–372. https://doi.org/10.1016/B978-0-12-381328-2.00014-6

Roos R. A. (2010). Huntington's disease: a clinical review. Orphanet journal of rare diseases, 5, 40. https://doi.org/10.1186/1750-1172-5-40

Simpson, E. H., & Balsam, P. D. (2016). The Behavioral Neuroscience of Motivation: An Overview of Concepts, Measures, and Translational Applications. Current topics in behavioral neurosciences, 27, 1–12. https://doi.org/10.1007/7854_2015_402

Tillerås, K. H., Kjoelaas, S. H., Dramstad, E., Feragen, K. B., & von der Lippe, C. (2020). Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study. Journal of genetic counseling, 29(6), 1093–1105. https://doi.org/10.1002/jgc4.1245

Torrico, T. J., & Munakomi, S. (2022). Neuroanatomy, Thalamus. In StatPearls. StatPearls Publishing. https://pubmed.ncbi.nlm.nih.gov/31194341/

Vale, T. C., & Cardoso, F. (2015). Chorea: A Journey through History. Tremor and other hyperkinetic movements (New York, N.Y.), 5, tre-5-296. https://doi.org/10.7916/D8WM1C98

Wexler, A., Wild, E. J., & Tabrizi, S. J. (2016). George Huntington: a legacy of inquiry, empathy and hope. Brain: a journal of neurology, 139(Pt 8), 2326–2333. https://doi.org/10.1093/brain/aww165

Xu, R. H., Zhou, L. M., & Wang, D. (2021). The Relationship Between Decisional Regret and Well-Being in Patients With and Without Depressive Disorders: Mediating Role of Shared Decision-Making. Frontiers in psychiatry, 12, 657224. https://doi.org/10.3389/fpsyt.2021.657224

Published

11-30-2023

How to Cite

Lee, I., & Bongiovanni, A. (2023). Motivation vs. Hopelessness: The Well-Being Following Predictive Testing for Huntington’s Disease. Journal of Student Research, 12(4). https://doi.org/10.47611/jsrhs.v12i4.5783

Issue

Section

HS Review Articles