How Clinicians Conceptualize "Actionability" in Genomic Screening.

Journal of personalized medicine(2023)

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摘要
Over the last decade, the concept of actionability has become a primary framework for assessing whether genetic data is useful and appropriate to return to patients. Despite the popularity of this concept, there is little consensus about what should count as "actionable" information. This is particularly true in population genomic screening, where there is considerable disagreement about what counts as good evidence and which clinical actions are appropriate for which patients. The pathway from scientific evidence to clinical action is not straightforward-it is as much social and political as it is scientific. This research explores the social dynamics shaping the integration of "actionable" genomic data into primary care settings. Based on semi-structured interviews with 35 genetics experts and primary care providers, we find that clinicians vary in how they define and operationalize "actionable" information. There are two main sources of disagreement. First, clinicians differ on the levels and types of evidence required for a result to be actionable, such as when we can be confident that genomic data provides accurate information. Second, there are disagreements about the clinical actions that must be available so that patients can benefit from that information. By highlighting the underlying values and assumptions embedded in discussions of actionability for genomic screening, we provide an empirical basis for building more nuanced policies regarding the actionability of genomic data in terms of population screening in primary care settings.
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关键词
actionability,ethics,genomic screening
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