建立基因组医学的证据和测量临床结果
Josh F Peterson1, Dan M Roden2, Lori A Orlando3
1Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Lancet (London, England)
|August 10, 2019
概括
基因组测序具有显著的临床益处,但缺乏广泛患者使用的结果证据. 这篇评论探讨了将基因组医学纳入常规护理中的研究和挑战.
科学领域:
- 基因组医学
- 临床遗传学
- 转化基因组学
背景情况:
- 人类基因组测序为诊断,预后和治疗提供了希望.
- 由于对改善结果的证据有限,特别是在没有特定基因检测的患者中,因此阻碍了广泛采用.
研究的目的:
- 审查基因组医学中的临床结果研究.
- 讨论在常规患者护理中生成下一代测序 (NGS) 证据的关键特征和挑战.
主要方法:
- 基因组医学临床结果研究的系统审查.
- 对基因组测序的证据构建策略的分析.
主要成果:
- 通过广泛的基因组测序来证明患者的改善结果的证据存在差距.
- 突出了研究设计,数据解释和日常基因组护理的实施方面的挑战.
结论:
- 需要进一步的研究来确定基因组测序对不同患者群体的临床效用和成本效益.
- 为了将基因组医学成功融入标准医疗保健实践中,开发强有力的证据至关重要.
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