Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
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DOI：
10.1038/s41431-018-0332-y
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发表时间：
2019-05-01
影响因子：
5.2
通讯作者：
Faivre, Laurence
中科院分区：
文献类型：
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作者：
Chassagne, Aline;Pelissier, Aurore;Faivre, Laurence
外显子组测序 (ES) 彻底改变了医学遗传学的诊断程序，特别是发育性疾病的诊断程序。所产生信息的多样性和复杂性引发了有关其在临床环境中使用的问题。特别令人感兴趣的是患者对所披露的信息、所提供的陪伴的期望以及患者对这些信息的重视。为了探索患有发育障碍且没有已知病因诊断的儿童父母的这些问题，来自社会和行为科学以及患者组织的多学科研究人员小组在法国的两个罕见疾病专业中心进行了一项混合方法研究（定量和定性）。这项定量研究旨在确定 513 名家长对于 ES 结果披露的偏好。它表明父母希望获得详尽的信息，包括可能与孩子的疾病和次要发现相关的意义不明的变异。这种对信息的渴望可能是一种最大化获得诊断机会的策略。这项定性研究旨在了解 ES 结果返回后接受采访的 57 名家长的期望和反应。深入分析表明，无论结果如何，家长对调查结果都抱有矛盾的情绪。这些研究的对比结果引发了人们对所提供信息的价值以及家长对结果的高期望的质疑。在总体不确定的情况下，在知情决策过程中以及结果披露后，父母期望的性质已成为优化家庭陪伴和支持的一个重要话题。
Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particular interest are patients' expectations regarding the information disclosed, the accompaniment provided, and the value patients place on these. To explore these issues in parents of children with developmental disorders and no diagnosis with known etiology, a multidisciplinary group of researchers from social and behavioral sciences and patient organizations conducted a mixed-methodology study (quantitative and qualitative) in two centers of expertise for rare diseases in France. The quantitative study aimed to determine the preferences of 513 parents regarding the disclosure of ES results. It showed that parents wished to have exhaustive information, including variants of unknown significance possibly linked to their child's disorder and secondary findings. This desire for information could be a strategy to maximize the chances of obtaining a diagnosis. The qualitative study aimed to understand the expectations and reactions of 57 parents interviewed just after the return of ES results. In-depth analysis showed that parents had ambivalent feelings about the findings whatever the results returned. The contrasting results from these studies raise questions about the value of the information provided and parents' high expectations regarding the results. The nature of parental expectations has emerged as an important topic in efforts to optimize accompaniment and support for families during the informed decision-making process and after disclosure of the results in an overall context of uncertainty.