Theme 13 Clinical management and support

IF 2.5 4区 医学 Q2 CLINICAL NEUROLOGY Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Pub Date : 2019-10-31 DOI:10.1080/21678421.2019.1647002
A. Crook, A. Hogden, V. Mumford, I. Blair, K. Williams, D. Rowe
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引用次数: 1

Abstract

Background: Pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases, and can be associated with risks for ALS only, or risks for other neurodegenerative diseases (eg. frontotemporal dementia). While there are no changes to medical management for patients confirmed as pathogenic variant carriers, genetic testing may be important for future drug trials. Confirmation of a pathogenic variant also provides relatives with the opportunity to consider predictive and/or reproductive genetic testing. Genetic counselling is an important aspect of testing decision-making as it enables individuals to make informed decisions about genetic testing while minimising adverse psychological, ethical and legal outcomes. Few studies have explored how individuals decide whether to pursue testing, nor the needs and experiences of familial ALS families.Objective: To identify factors that influence patient and family member decision-making about genetic testing for ALS genes, assess the impact of familial disease on the patient and their family, and identify information and support needs.Methods: In-depth, semi-structured interviews with individuals from Australian ALS families with known pathogenic gene variants explored experiences of familial ALS, and factors that influenced genetic testing decision-making. Interviews were analysed using an inductive approach.Results: Thirty-four individuals from 24 families were interviewed and included patients (n = 4), spouses (n = 4), and asymptomatic at-risk relatives (n = 26). Life stage, experience of disease, costs, research opportunities, and attitudes to familial ALS and/or reproductive options influenced decision-making. Some patients and relatives experienced difficulty gaining accurate information from their health professionals about the costs and implications of genetic counselling or testing, resulting in a reluctance to proceed.Discussion and conclusion: This study provides new insight into the Australian experience of genetic testing and counselling for familial ALS. It highlights the need to work together with other health professionals to ensure the complexities of genetic testing decision-making, and referral pathways are better understood.
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主题13临床管理和支持
背景:已知高达70%的家族性ALS病例和10%的明显散发性ALS病例中存在ALS基因的致病性变异,并且可能仅与ALS的风险相关,或与其他神经退行性疾病(如脊髓灰质炎)的风险相关。额颞叶痴呆)。虽然确诊为致病变异携带者的患者的医疗管理没有变化,但基因检测可能对未来的药物试验很重要。致病变异的确认也为亲属提供了考虑预测性和/或生殖基因检测的机会。遗传咨询是检测决策的一个重要方面,因为它使个人能够对基因检测做出明智的决定,同时最大限度地减少不利的心理、道德和法律后果。很少有研究探讨个体如何决定是否进行检测,也很少有研究探讨家族性ALS家庭的需求和经历。目的:了解影响ALS患者及家属基因检测决策的因素,评估家族性疾病对患者及家属的影响,识别信息和支持需求。方法:对来自澳大利亚已知致病基因变异的ALS家族的个体进行深入的半结构化访谈,探讨家族性ALS的经历,以及影响基因检测决策的因素。访谈采用归纳方法进行分析。结果:采访了来自24个家庭的34个人,包括患者(n = 4)、配偶(n = 4)和无症状高危亲属(n = 26)。生命阶段、疾病经历、费用、研究机会以及对家族性ALS和/或生殖选择的态度影响决策。一些病人和家属难以从他们的保健专业人员那里获得关于遗传咨询或检测的费用和影响的准确信息,因此不愿继续进行。讨论和结论:本研究为澳大利亚家族性ALS基因检测和咨询的经验提供了新的见解。它强调需要与其他卫生专业人员共同努力,以确保更好地了解基因检测决策的复杂性和转诊途径。
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来源期刊
CiteScore
5.40
自引率
10.70%
发文量
64
期刊介绍: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration is an exciting new initiative. It represents a timely expansion of the journal Amyotrophic Lateral Sclerosis in response to the clinical, imaging pathological and genetic overlap between ALS and frontotemporal dementia. The expanded journal provides outstanding coverage of research in a wide range of issues related to motor neuron diseases, especially ALS (Lou Gehrig’s disease) and cognitive decline associated with frontotemporal degeneration. The journal also covers related disorders of the neuroaxis when relevant to these core conditions.
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