The lived experience of reconstructing identity in response to genetic risk of frontotemporal degeneration and amyotrophic lateral sclerosis.
amyotrophic lateral sclerosis
frontotemporal degeneration
genetic counseling
predictive genetic testing
risk perception
Journal
Journal of genetic counseling
ISSN: 1573-3599
Titre abrégé: J Genet Couns
Pays: United States
ID NLM: 9206865
Informations de publication
Date de publication:
10 Jul 2023
10 Jul 2023
Historique:
revised:
06
06
2023
received:
24
01
2023
accepted:
27
06
2023
medline:
10
7
2023
pubmed:
10
7
2023
entrez:
10
7
2023
Statut:
aheadofprint
Résumé
With the increasing availability of predictive genetic testing for adult-onset neurodegenerative conditions, it is imperative that we better understand the impact of learning one's risk status. Frontotemporal degeneration (FTD) is the second most prevalent cause of early-onset dementia. About one-third of patients have an identifiable genetic etiology, and some genetic variants that cause FTD can also cause amyotrophic lateral sclerosis (ALS). To understand individuals' risk perception and broader experience of living at risk, we completed semi-structured telephone interviews with 14 asymptomatic adults who tested positive for a variant known to cause risk for FTD and/or ALS. We conducted a thematic analysis, and within the core topic of identity, we derived three themes: conceptualization of FTD and ALS as a threat to identity, enduring uncertainty and dread, and varying centrality of risk status to identity. FTD and ALS risk raised fundamental issues for participants related to the essence of personhood, challenged them to confront Cartesian dualism (the philosophy of mind-body separation), and exposed how time, relationships, and social roles have affected their understanding of the nature of the self. Our findings provide important insight into how being at genetic risk shapes an individual's identity. We conclude that genetic counseling interventions that allow for identity exploration, anticipatory guidance, and uncertainty management should be utilized when supporting persons at risk.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NHGRI NIH HHS
Pays : United States
Organisme : NIA NIH HHS
ID : AG066597
Pays : United States
Informations de copyright
© 2023 National Society of Genetic Counselors.
Références
Benatar, M., Stanislaw, C., Reyes, E., Hussain, S., Cooley, A., Fernandez, M. C., Dauphin, D. D., Michon, S. C., Andersen, P. M., & Wuu, J. (2016). Presymptomatic ALS genetic counseling and testing experience and recommendations. Neurology, 86(24), 2295-2302. https://doi.org/10.1212/WNL.0000000000002773
Biesecker, B. B., & Erby, L. (2008). Adaptation to living with a genetic condition or risk: A mini-review. Clinical Genetics, 74(5), 401-407. https://doi.org/10.1111/j.1399-0004.2008.01088.x
Blesson, A., & Cohen, J. S. (2019). Genetic counseling in neurodevelopmental disorders. Cold Spring Harbor Perspectives in Medicine, 10(4), a036533. https://doi.org/10.1101/cshperspect.a036533
Boss, P. (1999). Ambiguous loss: Learning to live with unresolved grief. Harvard University Press.
Boss, P. (2011). Loving someone who has dementia: How to find hope while coping with stress and grief. John Wiley & Sons.
Braun, V., & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3(2), 77-101.
Bronfenbrenner, U. (1979). The ecology of human development: Experiments by nature and design. Harvard University Press.
Chia, R., Chiò, A., & Traynor, B. J. (2018). Novel genes associated with amyotrophic lateral sclerosis: Diagnostic and clinical implications. The Lancet Neurology, 17(1), 94-102.
Crook, A., Hogden, A., Mumford, V., & Rowe, D. (2018). Facing the challenges of genetic testing: Family member experiences. International Journal for Quality in Health Care, 30(suppl 2), 50.
Crook, A., Hogden, A., Mumford, V., Blair, I., Williams, K., & Rowe, D. (2019). Genetic testing for familial motor neurone disease (MND): Insights and challenges. Twin Research and Human Genetics, 22, 342.
Crook, A., Jacobs, C., Newton-John, T., & McEwen, A. (2022). Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences. Journal of Genetic Counseling, 31(5), 1206-1218.
Crook, A., Jacobs, C., Newton-John, T., Richardson, E., & McEwen, A. (2021). Patient and relative experiences and decision-making about genetic testing and counseling for familial ALS and FTD: A systematic scoping review. Alzheimer Disease & Associated Disorders, 35(4), 374-385. https://doi.org/10.1097/WAD.0000000000000458
Crook, A., Jacobs, C., Newton-John, T., et al. (2019). Familial MND and FTD: Identifying the need for a new genetic counseling model of care. Twin Research and Human Genetics, 22, 360.
Crook, A., Williams, K., Adams, L., Blair, I., & Rowe, D. B. (2017). Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: Genetic counselling considerations. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 18(7-8), 475-485. https://doi.org/10.1080/21678421.2017.1332079
Crook, A., Hogden, A., Mumford, V., Blair, I. P., Williams, K. L., & Rowe, D. B. (2019). Genetic testing for familial amyotrophic lateral sclerosis (ALS): Insights and challenges. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 20(suppl 1), 327.
de Wert, G., Dondorp, W., Clarke, A., Dequeker, E. M., Cordier, C., Deans, Z., Fellmann, F., Hastings, R., Hentze, S., Howard, H., Macek, M., Mendes, A., Patch, C., Rial-Sebbag, E., Stefansdottir, V., Cornel, M. C., Forzano, F., & European Society of Human Genetics. (2021). Opportunistic genomic screening. Recommendations of the European society of human genetics. European Journal of Human Genetics, 29(3), 365-377.
Deleon, J., & Miller, B. L. (2018). Frontotemporal dementia. In D. H. Geschwind, H. L. Paulson, & C. Klein (Eds.), Handbook of clinical neurology vol 148 (3rd series), neurogenetics, part II (pp. 409-430). Elsevier.
Dewing, J. (2008). Personhood and dementia: Revisiting tom Kitwood's ideas. International Journal of Older People Nursing, 3(1), 3-13.
Dratch, L., Mu, W., Wood, E. M., Morgan, B., Massimo, L., Clyburn, C., Bardakjian, T., Grossman, M., Irwin, D. J., & Cousins, K. A. Q. (2023). Evaluation of an educational conference for persons affected by hereditary frontotemporal degeneration and amyotrophic lateral sclerosis. PEC Innovation, 2, 100108. https://doi.org/10.1016/j.pecinn.2022.100108
Fanos, J. H., Gronka, S., Wuu, J., Stanislaw, C., Andersen, P. M., & Benatar, M. (2011). Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis. Genetics in Medicine, 13(4), 342-348. https://doi.org/10.1097/GIM.0b013e318204d004
Gale, N. K., Heath, G., Cameron, E., Rashid, S., & Redwood, S. (2013). Using the framework method for the analysis of qualitative data in multi-disciplinary health research. BMC Medical Research Methodology, 13(1), 1-8.
Goldman, J., Xie, S., Green, D., Naini, A., Mansukhani, M. M., & Marder, K. (2021). Predictive testing for neurodegenerative diseases in the age of next-generation sequencing. Journal of Genetic Counseling, 30(2), 553-562.
Green, J., & Thorogood, N. (2014). Qualitative methods for health research (3rd ed.). Sage Publications.
Grodal, S., Anteby, M., & Holm, A. L. (2021). Achieving rigor in qualitative analysis: The role of active categorization in theory building. Academy of Management Review, 46(3), 591-612.
Hennink, M. M., Kaiser, B. N., & Marconi, V. C. (2017). Code saturation versus meaning saturation: How many interviews are enough? Qualitative Health Research, 27(4), 591-608. https://doi.org/10.1177/1049732316665344
Huntington's Disease Society of America (HDSA). (2016). Genetic testing protocol for huntington's disease. Retrieved from http://hdsa.org/wp-content/uploads/2015/02/HDSA-Gen-Testing-Protocol-for-HD.pdf
Kennedy, R. E., Williams, C. P., Sawyer, P., Allman, R. M., & Crowe, M. (2014). Comparison of in-person and telephone administration of the mini-mental state examination in the University of Alabama at Birmingham study of aging. Journal of the American Geriatrics Society, 62(10), 1928-1932.
Kessler, E. M., Bowen, C. E., Baer, M., Froelich, L., & Wahl, H. W. (2012). Dementia worry: A psychological examination of an unexplored phenomenon. European Journal of Ageing, 9(4), 275-284.
Kitwood, T. (1997). The experience of dementia. Aging & Mental Health, 1(1), 13-22.
Kukulka, K., Washington, K. T., Govindarajan, R., & Mehr, D. R. (2019). Stakeholder perspectives on the biopsychosocial and spiritual realities of living with ALS: Implications for palliative care teams. American Journal of Hospice and Palliative Medicine®, 36(10), 851-857.
Lakeman, R., McAndrew, S., MacGabhann, L., & Warne, T. (2013). ‘That was helpful… no one has talked to me about that before’: Research participation as a therapeutic activity. International Journal of Mental Health Nursing, 22(1), 76-84. https://doi.org/10.1111/j.1447-0349.2012.00842.x
MacLeod, R., Tibben, A., Frontali, M., Evers-Kiebooms, G., Jones, A., Martinez-Descales, A., Roos, R. A., & Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. (2013). Recommendations for the predictive genetic test in Huntington's disease. Clinical Genetics, 83(3), 221-231.
Mahmood, S., Law, S., & Bombard, Y. (2022). “I have to start learning how to live with becoming sick”: A scoping review of the lived experiences of people with Huntington's disease. Clinical Genetics, 101(1), 3-19.
Meiser, B., & Dunn, S. (2001). Topics in review: Psychological effect of genetic testing for Huntington's disease: An update of the literature. Western Journal of Medicine, 174(5), 336-340.
Mishel, M. H. (1988). Uncertainty in illness. Image - The Journal of Nursing Scholarship, 20(4), 225-232.
Molinuevo, J. L., Pintor, L., Peri, J. M., Lleó, A., Oliva, R., Marcos, T., & Blesa, R. (2005). Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias. American Journal of Alzheimer's Disease and Other Dementias, 20(4), 233-238.
Nguyen, H. P., Van Broeckhoven, C., & van der Zee, J. (2018). ALS genes in the genomic era and their implications for FTD. Trends in Genetics, 34(6), 404-423.
Onyike, C. U., & Diehl-Schmid, J. (2013). The epidemiology of frontotemporal dementia. International Review of Psychiatry, 25(2), 130-137. https://doi.org/10.3109/09540261.2013.776523
Paulsen, J. S., Nance, M., Kim, J. I., Carlozzi, N. E., Panegyres, P. K., Erwin, C., Goh, A., McCusker, E., & Williams, J. K. (2013). A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases. Progress in Neurobiology, 110, 2-28. https://doi.org/10.1016/j.pneurobio.2013.08.003
Piguet, O., Hornberger, M., Mioshi, E., & Hodges, J. R. (2011). Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management. The Lancet Neurology, 10(2), 162-172. https://doi.org/10.1016/S1474-4422(10)70299-4
Roach, P., Keady, J., Bee, P., & Hope, K. (2008). Subjective experiences of younger people with dementia and their families: Implications for UK research, policy and practice. Reviews in Clinical Gerontology, 18(2), 165-174. https://doi.org/10.1017/S0959259809002779
Roggenbuck, J., & Fong, J. C. (2020). Genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: Impact on clinical management. Clinics in Laboratory Medicine, 40(3), 271-287. https://doi.org/10.1016/j.cll.2020.05.002
Roggenbuck, J., Quick, A., & Kolb, S. J. (2017). Genetic testing and genetic counseling for amyotrophic lateral sclerosis: An update for clinicians. Genetics in Medicine, 19(3), 267-274. https://doi.org/10.1038/gim.2016.107
Rohrer, J. D., Nicholas, J. M., Cash, D. M., van Swieten, J., Dopper, E., Jiskoot, L., van Minkelen, R., Rombouts, S. A., Cardoso, M. J., Clegg, S., Espak, M., Mead, S., Thomas, D. L., de Vita, E., Masellis, M., Black, S. E., Freedman, M., Keren, R., MacIntosh, B., … Binetti, G. (2015). Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the genetic frontotemporal dementia initiative (GENFI) study: A cross-sectional analysis. The Lancet Neurology, 14(3), 253-262. https://doi.org/10.1016/S1474-4422(14)70324-2
Rolland, J. S., & Williams, J. K. (2005). Toward a biopsychosocial model for 21st-century genetics. Family Process, 44(1), 3-24.
Sabat, S. R., Johnson, A., Swarbrick, C., & Keady, J. (2011). The ‘demented other’ or simply ‘a person’? Extending the philosophical discourse of Naue and Kroll through the situated self. Nursing Philosophy, 12(4), 282-292.
Seelaar, H., Kamphorst, W., Rosso, S. M., Azmani, A., Masdjedi, R., de Koning, I., Maat-Kievit, J. A., Anar, B., Donker Kaat, L., Breedveld, G. J., Dooijes, D., Rozemuller, J. M., Bronner, I. F., Rizzu, P., & van Swieten, J. (2008). Distinct genetic forms of frontotemporal dementia. Neurology, 71(16), 1220-1226.
Shiba, T., Yamakawa, M., Endo, Y., Konno, R., & Tanimukai, S. (2022). Experiences of families of people living with frontotemporal dementia: A qualitative systematic review. Psychogeriatrics, 22(4), 530-543.
Spreadbury, J. H., & Kipps, C. (2017). Measuring younger onset dementia: What the qualitative literature reveals about the ‘lived experience’ for patients and caregivers. Dementia, 18, 579-598. https://doi.org/10.1177/1471301216684401
Steinbart, E. J., Smith, C. O., Poorkaj, P., & Bird, T. D. (2001). Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. Archives of Neurology, 58(11), 1828-1831.
Stuckey, H. L. (2015). The second step in data analysis: Coding qualitative research data. Journal of Social Health and Diabetes, 3(1), 7-10.
Taylor, S. E. (1983). Adjustment to threatening events: A theory of cognitive adaptation. American Psychologist, 38(11), 1161-1173.
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.
Timmermans, S., & Buchbinder, M. (2010). Patients-in-waiting: Living between sickness and health in the genomics era. Journal of Health and Social Behavior, 51(4), 408-423.
Tolhurst, E., Bhattacharyya, S., & Kingston, P. (2014). Young onset dementia: The impact of emergent age-based factors upon personhood. Dementia, 13(2), 193-206. https://doi.org/10.1177/1471301212456278
Touhy, T. A. (2004). Dementia, personhood, and nursing: Learning from a nursing situation. Nursing Science Quarterly, 17(1), 43-49.