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治疗的可及性影响着遗传健康专业人员关于披露偶发发现的决策。

Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings.

作者信息

Turbitt Erin, Wiest Michelle M, Halliday Jane L, Amor David J, Metcalfe Sylvia A

机构信息

1] Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.

1] Department of Statistical Science, University of Idaho, Moscow, ID, USA [2] Clinical Epidemiology and Biostatistics Unit, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.

出版信息

Eur J Hum Genet. 2014 Oct;22(10):1225-8. doi: 10.1038/ejhg.2014.11. Epub 2014 Feb 5.

Abstract

Contrasting opinions exist regarding the disclosure of incidental findings detected through clinical genomic testing. This study used a discrete choice experiment to investigate genetic health professionals' preferences for the disclosure of incidental findings in an Australian paediatric setting. Four attributes of conditions relating to incidental findings were investigated: availability of prevention and treatment, chance of symptoms ever developing, age of onset and severity. Questionnaires from 59 Australian genetic health professionals were analysed. Results show that when evaluating incidental findings for disclosure, these professionals value the availability of prevention and treatment for the condition above all other characteristics included in the study. The framework of this discrete choice experiment can be used to investigate the preferences of other stakeholders such as paediatricians and parents about disclosure of incidental findings. The results of this study may be considered when assessing which categories of incidental findings are most suitable for disclosure in clinical practice.

摘要

关于通过临床基因组检测发现的偶然发现的披露,存在不同观点。本研究采用离散选择实验,调查了澳大利亚儿科环境中遗传健康专业人员对偶然发现披露的偏好。研究了与偶然发现相关的病症的四个属性:预防和治疗的可用性、症状出现的可能性、发病年龄和严重程度。对59名澳大利亚遗传健康专业人员的问卷进行了分析。结果表明,在评估偶然发现是否披露时,这些专业人员最看重病症预防和治疗的可用性,高于研究中包含的所有其他特征。这种离散选择实验的框架可用于调查其他利益相关者(如儿科医生和家长)对偶然发现披露的偏好。在评估哪些偶然发现类别最适合在临床实践中披露时,可考虑本研究的结果。

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