基于美国医学遗传学和基因组学会指南的基因检测报告解读_Journal of Epilepsy

Authors：

陈璇 ^1,2 , 秦娜 ¹ ,  邓艳春 ¹

1. ;
2. ;

Corresponding author：

邓艳春, Email: yanchund@fmmu.edu.cn

Keywords：

ACMG指南; 基因检测; 报告解读

DOI：

10.7507/2096-0247.20170061

Video：

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随着精准医学的进一步开展，基因检测如雨后春笋般涌现，但检测报告质量却良莠不齐，亟待标准来规范。2015年，美国医学遗传学和基因组学会(American College of Medical Genetics and Genomics，ACMG)发布了关于测序技术在临床上应用的专业标准和指南，希望能为变异数据评级提供一个相对科学的标准。但2016年，Amendola等对比了美国9个中心实验室的测序解读结果，发现ACMG指南在具体实施过程中仍存在许多问题。所有实验室均通过该指南进行变异结果的判断，但其评级的相符率仅有34%。而对于ACMG指南的理解不同，是导致变异等级判断结论不一致的主要原因。作为临床医生，基因检测报告的解读是不可或缺的基本功，不仅要向实验室提供准确和完整的临床信息，也需要了解及掌握该指南，知道如何准确使用基因检测提供的证据来进行后续的诊断和治疗决策。现将基于ACMG指南，对3例癫痫患者基因检测报告进行解读，期望能更加形象具体地阐释该指南，使更多的临床医生更好的理解及运用指南。

Citation： 陈璇, 秦娜, 邓艳春. 基于美国医学遗传学和基因组学会指南的基因检测报告解读. Journal of Epilepsy, 2017, 3(5): 395-400. doi: 10.7507/2096-0247.20170061 Copy

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3.	席志芹, 王学峰, 吕洋, 等.伴听觉症状的家族性颞叶外侧癫痫的临床特点及LGI1基因突变检测.中华医学杂志, 2009, 89(3): 195-197.
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1. Sanger F, Nicklen S, Coulson AR.DNA sequencing with chain-terminating inhibitors.Proc Natl Acad Sci USA, 1977, 74(12): 5463-5467.
2. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med, 2015, 17(5): 405-424.
3. 席志芹, 王学峰, 吕洋, 等.伴听觉症状的家族性颞叶外侧癫痫的临床特点及LGI1基因突变检测.中华医学杂志, 2009, 89(3): 195-197.
4. Lesca G, Rudolf G, Bruneau N, et al. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.Nat Genet, 2013, 45(9): 1061-1066.
5. Chen Y, Lu J, Pan H, et al. Association between genetic variation of CACNA1H and childhood absence epilepsy.Ann Neurol, 2003, 54(2): 239-243.
6. Heron SE, Phillips HA, Mulley JC, et al. Genetic variation of CACNA1H in idiopathic generalized epilepsy.Ann Neurol, 2004, 55(4): 595-596.
7. Yang Y, Wang Y, Li S, et al. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.J Med Genet, 2004, 41(3): 171-174.
8. Singh NA, Pappas C, Dahle EJ, et al. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet Syndrome.PLoS Genet, 2009, 5(9): e1000649.
9. Amendola LM, Jarvik GP, Leo MC, et al. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium.Am J Hum Genet, 2016, 99(1): 247.

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