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对分子诊断的新方法

Bruce R Korf¹, Heidi L Rehm

¹Department of Genetics, University of Alabama at Birmingham, 1720 Second Ave S, Kaul 230, Birmingham, AL 35294, USA. bkorf@uab.edu

|April 11, 2013

概括

分子遗传和基因组测试正在迅速发展,为罕见和常见疾病提供新的诊断能力. 医生现在可以利用这些DNA分析技术来进行个性化医疗和改善患者护理.

科学领域:

遗传学和基因组学在
分子生物学分子生物学
临床诊断临床诊断临床诊断

背景情况:

对疾病分子基础的理解和DNA分析技术正在迅速发展.
高分辨率分子细胞遗传学分析在检测DNA变异方面超过光显微镜.
进步使得在核酸水平上精确检测删除或重复.

研究的目的:

引导医生在临床实践中应用新的遗传和基因组测试方法.
提高医生对解释遗传和基因组测试结果的原则的认识.
突出新型分子诊断工具的临床实用性和伦理考虑.

主要方法:

针对单基因疾病的向突变分析.
基因测序用于突变识别.
下一代测序 (NGS) 用于外体和基因组分析.
遗传变异的生物信息分析.

主要成果:

NGS 便于对多个基因和整个外体进行临床测试的分析.
外基组测序识别了致病变体和潜在的偶然发现,影响了遗传咨询.
在药物基因组学中,DNA测试有助于定制药物选择和剂量.
基因组测试在瘤学中用于治疗指导,风险评估和预后.
对常见疾病的基因组测试显示出潜力,但需要进一步评估临床效用.

结论:

遗传和基因组测试在诊断和管理各种疾病方面提供了变革性的潜力.
医生需要了解这些先进测试的临床应用和解释细微差别.
伦理,法律和社会影响,包括遗传咨询,是广泛采用的关键考虑因素.

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