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向中间立场转移:重新定义基因组效用以扩大对家族获益的理解。

Moving to the Middle Ground: Redefining Genomic Utility to Expand Understanding of Familial Benefit.

机构信息

Professor of pediatrics at the University of Louisville and the chief scientific officer for the Norton Children's Research Institute.

Faculty investigator at the HudsonAlpha Institute for Biotechnology.

出版信息

Ethics Hum Res. 2024 Jan-Feb;46(1):43-48. doi: 10.1002/eahr.500199.

Abstract

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.

摘要

转化研究往往忽略了这样一个问题,即在医生办公室和医院之外的社区护理环境中,获得基因组诊断是否具有实际效用。然而,对父母的实证研究强调了基因组诊断在教师、物理治疗师、职业治疗师、言语语言病理学家、行为分析师和非医师心理健康提供者提供的护理中具有实际价值的诸多方式。在本文中,我们提出了一个新的基因组效用概念模型,为更好地捕捉基因组技术对不同社会和组织系统中家庭的广泛潜在影响提供了机会。我们探讨了至关重要的研究方向,以更好地了解重新定义的效用如何影响家庭和非医师专业人员。

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