{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T13:17:10Z","timestamp":1781615830158,"version":"3.54.5"},"reference-count":41,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T00:00:00Z","timestamp":1711324800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000406","name":"Motor Neurone Disease Association","doi-asserted-by":"publisher","award":["Locock\/Sept19\/941\u2010794"],"award-info":[{"award-number":["Locock\/Sept19\/941\u2010794"]}],"id":[{"id":"10.13039\/501100000406","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000882","name":"University of Aberdeen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000882","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Health Expectations"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Motor neuron disease (MND) (also known as amyotrophic lateral sclerosis) is a life\u2010limiting neurodegenerative condition. In up to 20% of people with MND, a pathogenic variant associated with autosomal dominant inheritance can be identified. Children of people carrying a pathogenic variant have a 50% chance of inheriting this and a higher, although harder to predict, chance of developing the disease compared to the general adult population. This paper explores the experience of living with the genetic risk of MND.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We undertook a UK\u2010based interview study with 35 individuals, including: 7 people living with genetically\u2010mediated forms of MND; 24 asymptomatic relatives, the majority of whom had an increased risk of developing the disease; and 4 unrelated partners.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We explore how individuals make sense of genetic risk, unpacking the interplay between genetic knowledge, personal perception, experiences of the disease in the family, age and life stage\u00a0and the implications that living with risk has for different aspects of their lives. We balance an emphasis on the emotional and psychological impact described by participants, with a recognition that the salience of risk fluctuates over time. Furthermore, we highlight the diverse strategies and approaches people employ to live well in the face of uncertainty\u00a0and the complex ways they engage with the possibility of developing symptoms in the future. Finally, we outline the need for open\u2010ended, tailored support and information provision.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Drawing on wider literature on genetic risk, we foreground how knowledge of MND risk can disrupt individuals' taken\u2010for\u2010granted assumptions on life and perceptions of the future, but also its contextuality, whereby its relevance becomes more prominent at critical junctures. This research has been used in the development of a public\u2010facing resource on the <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/healthtalk.org\">healthtalk.org<\/jats:ext-link> website.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patient or Public Contribution<\/jats:title><jats:p>People with experience of living with genetic risk were involved throughout the design and conduct of the study and advised on aspects including the topic guide, sampling and recruitment\u00a0and the developing analysis. Two patient and public involvement\u00a0contributors joined a formal advisory panel.<\/jats:p><\/jats:sec>","DOI":"10.1111\/hex.14024","type":"journal-article","created":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T05:20:09Z","timestamp":1711430409000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Fluctuating salience in those living with genetic risk of motor neuron disease: A qualitative interview study"],"prefix":"10.1111","volume":"27","author":[{"given":"Jade","family":"Howard","sequence":"first","affiliation":[{"name":"Division of Neuroscience, Sheffield Institute for Translational Neuroscience University of Sheffield Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fadhila","family":"Mazanderani","sequence":"additional","affiliation":[{"name":"School of Social and Political Science, Science, Technology and Innovation Studies University of Edinburgh Edinburgh UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen Forrest","family":"Keenan","sequence":"additional","affiliation":[{"name":"Epidemiology Group University of Aberdeen Aberdeen UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin R.","family":"Turner","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8109-1930","authenticated-orcid":false,"given":"Louise","family":"Locock","sequence":"additional","affiliation":[{"name":"Health Services Research Unit University of Aberdeen Aberdeen UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,25]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1710379"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-107776"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678421.2022.2150556"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2204705"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(21)00414-2"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2020-325014"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.107"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2021-002989"},{"key":"e_1_2_11_10_1","unstructured":"MND Association. Inherited MND: options when starting a family Information Sheet B3.2023. Accessed September 13 2022.https:\/\/www.mndassociation.org\/about-mnd\/what-is-mnd\/inherited-mnd\/"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.repbio.2020.100468"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30178"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318204d004"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3109\/21678421.2014.951945"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1749"},{"key":"e_1_2_11_16_1","unstructured":"Biogen. FDA grants accelerated approval for QALSODY\u2122 (tofersen) for SOD1\u2010ALS a major scientific advancement as the first treatment to target a genetic cause of ALS.2023. 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