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精神分裂症患者及其一级亲属对因果归因的看法和对基因检测的态度。

Perceptions of causal attribution and attitudes to genetic testing among people with schizophrenia and their first-degree relatives.

机构信息

School of Medicine, University of New South Wales, Sydney, Australia.

Prince of Wales Clinical School, University of New South Wales, Sydney, Australia.

出版信息

Eur J Hum Genet. 2022 Oct;30(10):1147-1154. doi: 10.1038/s41431-022-01116-8. Epub 2022 May 16.

Abstract

Rapid advances in the genetics of psychiatric disorders mean that diagnostic and predictive genetic testing for schizophrenia risk may one day be a reality. This study examined how causal attributions for schizophrenia contribute to interest in a hypothetical genetic test. People with schizophrenia and first-degree relatives of people with schizophrenia were recruited through a schizophrenia research bank and mental health organisation. Semi-structured telephone interviews were conducted with 13 individuals with schizophrenia and 8 first-degree relatives. Transcripts were subjected to a qualitative analysis using the thematic analysis framework. Five themes were developed: (i) "It is like a cocktail", with most participants aware that both genetic and environmental factors contributed to causation, and many mentioning the positive impact of genetic causal explanations; (ii) "Knowledge is power" (i.e., in favour of genetic testing); (iii) Genetic testing provides opportunities for early intervention and avoiding triggers, with participants citing a wide range of perceived benefits of genetic testing but few risks; (iv) Views on reproductive genetic testing for schizophrenia risk with a few participants viewing it as "playing God" but not necessarily being against it; and (v) "It snowballs", whereby participants' understanding of genetics was sophisticated with most believing that multiple rather than single genes contributed to schizophrenia. In conclusion, many individuals had a sound understanding of the role of genetic testing if it were to become available, with evidence of insight into the role of multiple genes and the contribution of other risk factors that may interact with any inherited genetic risk.

摘要

精神疾病遗传学的快速发展意味着,有朝一日,对精神分裂症风险的诊断和预测性遗传检测可能成为现实。本研究探讨了对精神分裂症的因果归因如何影响对假设性遗传检测的兴趣。通过精神分裂症研究银行和心理健康组织招募了精神分裂症患者和精神分裂症患者一级亲属。对 13 名精神分裂症患者和 8 名一级亲属进行了半结构化电话访谈。使用主题分析框架对转录本进行了定性分析。得出了五个主题:(i)“这就像鸡尾酒”,大多数参与者都知道遗传和环境因素都促成了病因,许多人提到遗传因果解释的积极影响;(ii)“知识就是力量”(即支持基因检测);(iii)遗传检测为早期干预和避免诱因提供了机会,参与者列举了遗传检测的广泛潜在益处,但很少有风险;(iv)对精神分裂症风险的生殖遗传检测的看法,少数参与者认为这是“扮演上帝”,但不一定反对;(v)“雪球效应”,参与者对遗传学的理解很复杂,大多数人认为是多个基因而不是单个基因导致了精神分裂症。总之,如果遗传检测能够实现,许多人对其作用有正确的理解,有证据表明他们已经了解了多个基因的作用,以及与任何遗传风险因素相互作用的其他风险因素的作用。

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