Establishing the Medical Actionability of Genomic Variants.
Establishing the Medical Actionability of Genomic Variants.
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DOI：
10.1146/annurev-genom-111021-032401
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发表时间：
2022-08-31
影响因子：
8.7
通讯作者：
中科院分区：
文献类型：
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作者：
可诉性是医学中的一个重要概念，它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淆，这是一个相关但不同的概念。这种缺乏明确性导致基因组医学的实践差异和不一致的覆盖范围决定，导致在使用循证干预措施时可能出现系统性偏倚。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中的应用，包括预测，诊断和治疗。目前在评估已鉴定基因组变异的医学可操作性方面的挑战包括证据的差距、实践指南的有限背景以及医学可操作性的主观方面。标准化和权威性的医疗可操作性评估对于以改善人口健康结果和减少健康差异的方式实施基因组医学至关重要。
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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影响因子：
3.6
作者：
FRYBACK, DG;THORNBURY, JR
通讯作者：
THORNBURY, JR
影响因子：
3.6
作者：
Fraiman YS;Wojcik MH
通讯作者：
Wojcik MH
影响因子：
4
作者：
Boycott K;Hartley T;Adam S;Bernier F;Chong K;Fernandez BA;Friedman JM;Geraghty MT;Hume S;Knoppers BM;Laberge AM;Majewski J;Mendoza-Londono R;Meyn MS;Michaud JL;Nelson TN;Richer J;Sadikovic B;Skidmore DL;Stockley T;Taylor S;van Karnebeek C;Zawati MH;Lauzon J;Armour CM;Canadian College of Medical Geneticists
通讯作者：
Canadian College of Medical Geneticists
影响因子：
1.1
作者：
Evans, DGR;Baser, ME;Ramsden, R
通讯作者：
Ramsden, R
DOI：
10.1038/gim.2013.37
发表时间：
2013-09
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
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作者：
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