Establishing the Medical Actionability of Genomic Variants.

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY
Katrina A B Goddard, Kristy Lee, Adam H Buchanan, Bradford C Powell, Jessica Ezzell Hunter
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引用次数: 7

Abstract

Actionability is an important concept in medicine that does not have a well-accepted standard definition, nor is there a general consensus on how to establish it. Medical actionability is often conflated with clinical utility, a related but distinct concept. This lack of clarity contributes to practice variation and inconsistent coverage decisions in genomic medicine, leading to the potential for systematic bias in the use of evidence-based interventions. We clarify how medical actionability and clinical utility are distinct and then discuss the spectrum of actionability, including benefits for the person, the family, and society. We also describe applications across the life course, including prediction, diagnosis, and treatment. Current challenges in assessing the medical actionability of identified genomic variants include gaps in the evidence, limited contexts with practice guidelines, and subjective aspects of medical actionability. A standardized and authoritative assessment of medical actionability is critical to implementing genomic medicine in a fashion that improves population health outcomes and reduces health disparities.

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建立基因组变异的医学可操作性。
可操作性是医学中一个重要的概念,但目前还没有一个公认的标准定义,也没有一个关于如何建立它的普遍共识。医疗可诉性经常与临床效用混为一谈,这是一个相关但不同的概念。这种缺乏明确性导致了基因组医学的实践差异和不一致的覆盖决策,导致在使用循证干预措施时可能出现系统性偏差。我们澄清了医疗可诉性和临床效用是如何区分的,然后讨论了可诉性的范围,包括对个人、家庭和社会的好处。我们还描述了整个生命过程的应用,包括预测、诊断和治疗。在评估已确定基因组变异的医疗可操作性方面,目前面临的挑战包括证据的空白、实践指南的有限背景以及医疗可操作性的主观方面。标准化和权威的医疗可操作性评估对于以改善人口健康结果和缩小健康差距的方式实施基因组医学至关重要。
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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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