临床护理中的基因组

IF 4.7 2区 医学 Q1 GENETICS & HEREDITY NPJ Genomic Medicine Pub Date : 2024-03-14 DOI:10.1038/s41525-024-00402-2
Olaf Riess, Marc Sturm, Benita Menden, Alexandra Liebmann, German Demidov, Dennis Witt, Nicolas Casadei, Jakob Admard, Leon Schütz, Stephan Ossowski, Stacie Taylor, Sven Schaffer, Christopher Schroeder, Andreas Dufke, Tobias Haack
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摘要

在精准医疗时代,基因组测序(GS)变得更加经济实惠,基因组学和多组学在临床医疗中的重要性也日益得到认可。然而,如何在机构层面扩大并有效实施基因组测序仍然是许多人面临的挑战。在此,我们介绍 Genome First 和 Ge-Med,这两项临床实施研究的重点是确定在临床环境中实现常规 GS 和预测基因组学所需的关键支柱和流程。我们介绍了在测试物流、患者护理流程、数据报告和基础设施等方面的经验和教训。我们从单一来源提供临床护理和全面基因组分析的模式可供其他具有类似结构的中心使用,以促进在医学中实施基于 omics 的个性化健康理念。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Genomes in clinical care

In the era of precision medicine, genome sequencing (GS) has become more affordable and the importance of genomics and multi-omics in clinical care is increasingly being recognized. However, how to scale and effectively implement GS on an institutional level remains a challenge for many. Here, we present Genome First and Ge-Med, two clinical implementation studies focused on identifying the key pillars and processes that are required to make routine GS and predictive genomics a reality in the clinical setting. We describe our experience and lessons learned for a variety of topics including test logistics, patient care processes, data reporting, and infrastructure. Our model of providing clinical care and comprehensive genomic analysis from a single source may be used by other centers with a similar structure to facilitate the implementation of omics-based personalized health concepts in medicine.

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来源期刊
NPJ Genomic Medicine
NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology
CiteScore
9.40
自引率
1.90%
发文量
67
审稿时长
17 weeks
期刊介绍: npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.
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