What is a 'serious' genetic condition? The perceptions of people living with genetic conditions.
What is a 'serious' genetic condition? The perceptions of people living with genetic conditions.
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DOI：
10.1038/s41431-021-00962-2
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发表时间：
2022-03
期刊：
影响因子：
--
通讯作者：
Clark CC
中科院分区：
文献类型：
--
作者：
Boardman FK;Clark CC
尽管对“严重性”的定义没有达成共识，但这一概念在政策和实践中经常被用于对疾病进行分类，确定获得遗传技术的机会和选择性终止妊娠的使用。虽然已经尝试创建遗传状况严重性的分类以告知临床和政策决策，但这些通常依赖于健康和遗传学专业人员进行的状况评估。遗传病患者的观点在很大程度上没有得到充分的代表。本研究通过一系列“临床严重”疾病（脆性X染色体疾病、脊髓性肌萎缩症、囊性纤维化、血友病、地中海贫血）患者的视角探讨了严重性的概念。从45个深入的定性访谈和469个邮政/在线调查中阐明了对痛苦，生活质量（QoL）和选择性终止妊娠的态度。大多数参与者报告健康状况良好，尽管他们的病情经历了痛苦，但仍有良好的QoL能力。值得注意的是，与早发性疾病相比，晚发性疾病的参与者对他们的健康和生活质量持有更多的负面看法，并且更有可能将他们的病情视为疾病。这些参与者更有可能将他们的状况视为他们身份的一部分。虽然大多数参与者支持产前筛查，但很少有人支持选择性终止妊娠。此外，社会环境出现作为一个关键的调解人的经验的条件。遗传病患者复杂而丰富的见解可能会被有效地纳入未来的“严肃性”遗传分类中，以确保它们更准确地反映遗传病患者的生活现实。
Despite no consensus on the definition of ‘seriousness’, the concept is regularly used in policy and practice contexts to categorise conditions, determine access to genetic technologies and uses of selective pregnancy termination. Whilst attempts have been made to create taxonomies of genetic condition seriousness to inform clinical and policy decision-making, these have often relied on condition appraisals made by health and genetics professionals. The views of people with genetic conditions have been largely under-represented. This study explores the concept of seriousness through the perspectives of people with a range of ‘clinically serious’ conditions (fragile X conditions, spinal muscular atrophy, cystic fibrosis, haemophilia, thalassaemia). Attitudes towards suffering, quality of life (QoL) and selective pregnancy termination were elucidated from 45 in-depth qualitative interviews and 469 postal/online surveys. The majority of participants reported good health/wellbeing, and the capacity for good QoL, despite experiencing suffering with their condition. Notably, participants with later-onset conditions held more negative views of their health and QoL, and were more likely to view their condition as an illness, than those with early-onset conditions. These participants were more likely to see their condition as part of their identity. Whilst most participants supported prenatal screening, there was little support for selective termination. Moreover, social environment emerged as a critical mediator of the experience of the condition. The complex and rich insights of people living with genetic conditions might usefully be incorporated into future genetic taxonomies of ‘seriousness’ to ensure they more accurately reflect the lived reality of those with genetic conditions.
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影响因子：
5.2
作者：
Molster CM;Lister K;Metternick-Jones S;Baynam G;Clarke AJ;Straub V;Dawkins HJ;Laing N
通讯作者：
Laing N
影响因子：
4.1
作者：
Kleiderman, Erika;Ravitsky, Vardit;Knoppers, Bartha Maria
通讯作者：
Knoppers, Bartha Maria
III型粘二糖的亲属对孕入疗法筛查的态度。
DOI：
10.1038/s41431-020-0648-2
发表时间：
2020-10
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Nijmeijer SCM;Conijn T;Lakeman P;Henneman L;Wijburg FA;Haverman L
通讯作者：
Haverman L
影响因子：
5.2
作者：
Kirk, Edwin P.;Ong, Royston;Delatycki, Martin B.
通讯作者：
Delatycki, Martin B.
影响因子：
1.9
作者：
Roadhouse, C.;Shuman, C.;Ignagni, E.
通讯作者：
Ignagni, E.