Moving to the Middle Ground: Redefining Genomic Utility to Expand Understanding of Familial Benefit.
Moving to the Middle Ground: Redefining Genomic Utility to Expand Understanding of Familial Benefit.
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转向中间立场：重新定义基因组效用以扩大对家庭利益的理解。
DOI：
10.1002/eahr.500199
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发表时间：
2024
影响因子：
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通讯作者：
Goldenberg,AaronJ
中科院分区：
文献类型：
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作者：
Brothers,KyleB;Cooper,GregM;McNamara,KatelynC;Lemke,AmyA;Timmons,Josie;Rich,CarlaA;Cadigan,RJean;Ponsaran,RoselleS;Goldenberg,AaronJ
转化研究往往忽略了接受基因组诊断是否在医生办公室和医院以外的社区护理环境中提供效用的问题。然而，对父母的实证研究强调了许多方面，基因组诊断可能在教师、物理或职业治疗师、语言病理学家、行为分析师和非医生心理健康提供者提供的护理中具有实用价值。在本文中，我们提出了一个新的基因组效用概念模型，该模型提供了更好地捕捉基因组技术在各种社会和组织系统中对家庭的广泛潜在影响的机会。我们探索了重要的研究方向，以更好地理解重新定义的效用如何影响家庭和非医生专业人员。
Translational research has tended to ignore the question of whether receiving a genomic diagnosis provides utility in community care contexts outside of doctors' offices and hospitals. However, empirical research with parents has highlighted numerous ways that a genomic diagnosis might be of practical value in the care provided by teachers, physical or occupational therapists, speech‐language pathologists, behavior analysts, and nonphysician mental health providers. In this essay, we propose a new conceptual model of genomic utility that offers the opportunity to better capture a broad range of potential implications of genomic technologies for families in various social and organizational systems. We explore crucial research directions to better understand how redefined utility might affect families and nonphysician professionals.