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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.

Titel:	The lived experience of reconstructing identity in response to genetic risk of frontotemporal degeneration and amyotrophic lateral sclerosis.
Autor/in / Beteiligte Person:	Dratch, L ; Owczarzak, J ; Mu, W ; Cousins, KAQ ; Massimo, L ; Grossman, M ; Erby, L
Link:	Full Text Finder (Volltext)
Zeitschrift:	Journal of genetic counseling, Jg. 33 (2024-06-01), Heft 3, S. 515-527
Veröffentlichung:	2019- : [Hoboken, NJ] : Wiley ; <i>Original Publication</i>: New York, N.Y. : Human Sciences Press, c1992-, 2024
Medientyp:	academicJournal
ISSN:	1573-3599 (electronic)
DOI:	10.1002/jgc4.1749
Schlagwort:	Humans Female Male Middle Aged Adult Genetic Predisposition to Disease Aged Frontotemporal Lobar Degeneration genetics Frontotemporal Lobar Degeneration psychology Amyotrophic Lateral Sclerosis genetics Amyotrophic Lateral Sclerosis psychology
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [J Genet Couns] 2024 Jun; Vol. 33 (3), pp. 515-527. <i>Date of Electronic Publication: </i>2023 Jul 10. MeSH Terms: Amyotrophic Lateral Sclerosis* / genetics ; Amyotrophic Lateral Sclerosis* / psychology ; Humans ; Female ; Male ; Middle Aged ; Adult ; Genetic Predisposition to Disease ; Aged ; Frontotemporal Lobar Degeneration / genetics ; Frontotemporal Lobar Degeneration / psychology References: 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. 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Grant Information: P01 AG066597 United States AG NIA NIH HHS; ZIE HG200353 United States ImNIH Intramural NIH HHS; United States HG NHGRI NIH HHS; AG066597 United States AG NIA NIH HHS; United States HG NHGRI NIH HHS; AG066597 United States AG NIA NIH HHS Contributed Indexing: Keywords: amyotrophic lateral sclerosis; frontotemporal degeneration; genetic counseling; predictive genetic testing; risk perception Entry Date(s): Date Created: 20230710 Date Completed: 20240618 Latest Revision: 20240621 Update Code: 20240621 PubMed Central ID: PMC10776796

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The lived experience of reconstructing identity in response to genetic risk of frontotemporal degeneration and amyotrophic lateral sclerosis.