在临床护理中实施基因组学的机会,资源和技术
Teri A Manolio1, Robb Rowley1, Marc S Williams2
1National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Lancet (London, England)
|August 10, 2019
概括
基因组医学使用个体遗传信息进行临床护理,协助疾病风险评估,诊断和药物疗效. 这种从研究到实践的转变在解释和实施方面面临挑战.
科学领域:
- 基因组学
- 临床遗传学
- 翻译科学
背景情况:
- 基因组变异评估技术已经取得了重大进展.
- 人们越来越了解基因组变异对健康和疾病的影响.
- 基因组学正在从研究转向临床实践.
研究的目的:
- 描述临床重要的基因组变异类型和测量工具.
- 审查基因组序列变异解释方法.
- 确定基因组测试解释的资源,并讨论实施障碍.
主要方法:
- 对评估基因组变异的现有技术进行审查.
- 对解释基因组序列变异的既定方法的分析.
- 确定临床基因组学公开可用的工具和资源.
主要成果:
- 详述了临床相关基因组变异的主要类型和测量工具.
- 对解释基因组序列变异的方法进行了审查.
- 确定用于基因组测试解释的公开资源.
结论:
- 基因组医学越来越多地被纳入常规的临床实践.
- 应用包括疾病风险评估,罕见疾病诊断和药物基因组学.
- 讨论在临床实践中常规使用基因组信息的障碍.
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