临床诊断基因组测序相关的机遇与挑战：美国分子病理学会报告
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.
机构信息
Whole Genome Analysis Working Group, Association for Molecular Pathology Clinical Practice Committee, Bethesda, Maryland, USA.
出版信息
J Mol Diagn. 2012 Nov;14(6):525-40. doi: 10.1016/j.jmoldx.2012.04.006. Epub 2012 Aug 20.
Abstract
This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical diagnostic genome sequencing. With the reality of clinical application of next-generation sequencing, technical aspects of molecular testing can be accomplished at greater speed and with higher volume, while much information is obtained. Although this testing is a next logical step for molecular pathology laboratories, the potential impact on the diagnostic process and clinical correlations is extraordinary and clinical interpretation will be challenging. We review the rapidly evolving technologies; provide application examples; discuss aspects of clinical utility, ethics, and consent; and address the analytic, postanalytic, and professional implications.
摘要
本报告由分子病理学协会的全基因组分析小组撰写，阐明了临床诊断基因组测序所涉及的机遇和挑战。随着下一代测序技术的临床应用成为现实，分子检测的技术方面可以更快、更大规模地完成，同时获得更多信息。虽然这种检测是分子病理实验室的下一步合理选择，但它对诊断过程和临床相关性的潜在影响是巨大的，临床解释也将具有挑战性。我们回顾了快速发展的技术；提供了应用实例；讨论了临床实用性、伦理学和同意书的各个方面；并探讨了分析前、分析后和专业方面的影响。
相似文献
1
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.临床诊断基因组测序相关的机遇与挑战：美国分子病理学会报告
J Mol Diagn. 2012 Nov;14(6):525-40. doi: 10.1016/j.jmoldx.2012.04.006. Epub 2012 Aug 20.
2
The Next Generation of Molecular Pathology is Here: Validation of Next-Generation Sequencing Technology for Clinical Molecular Testing Across Multiple Different Disciplines.新一代分子病理学已至：跨多个不同学科的临床分子检测中下一代测序技术的验证。
Arch Pathol Lab Med. 2017 Jun;141(6):749-750. doi: 10.5858/arpa.2017-0042-ED.
3
Next-Generation Sequencing for Infectious Disease Diagnosis and Management: A Report of the Association for Molecular Pathology.用于传染病诊断与管理的下一代测序技术：分子病理学协会报告
J Mol Diagn. 2015 Nov;17(6):623-34. doi: 10.1016/j.jmoldx.2015.07.004. Epub 2015 Sep 30.
4
Bacterial genome sequencing in the clinic: bioinformatic challenges and solutions.临床细菌基因组测序：生物信息学面临的挑战与解决方案。
Nat Rev Genet. 2014 Jan;15(1):49-55. doi: 10.1038/nrg3624. Epub 2013 Nov 26.
5
Next-Generation Sequencing Informatics: Challenges and Strategies for Implementation in a Clinical Environment.下一代测序信息学：临床环境中实施的挑战与策略
Arch Pathol Lab Med. 2016 Sep;140(9):958-75. doi: 10.5858/arpa.2015-0507-RA. Epub 2016 Feb 22.
6
Assembling and Validating Bioinformatic Pipelines for Next-Generation Sequencing Clinical Assays.组装和验证下一代测序临床检测的生物信息学流程。
Arch Pathol Lab Med. 2020 Sep 1;144(9):1118-1130. doi: 10.5858/arpa.2019-0476-RA.
7
Challenges and opportunities of next-generation sequencing: a cytopathologist's perspective.新一代测序技术的挑战与机遇：细胞病理学家的视角
Cytopathology. 2015 Oct;26(5):271-83. doi: 10.1111/cyt.12265.
8
Current role of cytopathology in the molecular and computational era: The perspective of young pathologists.细胞病理学在分子和计算时代的当前作用：年轻病理学家的观点。
Cancer Cytopathol. 2024 Nov;132(11):678-685. doi: 10.1002/cncy.22832. Epub 2024 May 15.
9
Molecular Pathology Informatics.分子病理学信息学
Surg Pathol Clin. 2015 Jun;8(2):187-94. doi: 10.1016/j.path.2015.02.013. Epub 2015 Apr 7.
10
Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL.下一代测序技术在临床诊断分子病理学实验室中用于实体瘤分析的整合；代表IQN Path ASBL的专家意见。
Virchows Arch. 2017 Jan;470(1):5-20. doi: 10.1007/s00428-016-2025-7. Epub 2016 Sep 27.
引用本文的文献
1
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.MOLGENIS VIP：一个用于研究和诊断的端到端DNA变异解读流程，可配置以支持新方法的快速实施。
NAR Genom Bioinform. 2025 Jun 23;7(2):lqaf087. doi: 10.1093/nargab/lqaf087. eCollection 2025 Jun.
2
Applications of genome sequencing as a single platform for clinical constitutional genetic testing.基因组测序作为临床先天性基因检测单一平台的应用。
Genet Med Open. 2024 Mar 20;2:101840. doi: 10.1016/j.gimo.2024.101840. eCollection 2024.
3
Methods to improve the accuracy of next-generation sequencing.提高下一代测序准确性的方法。
Front Bioeng Biotechnol. 2023 Jan 20;11:982111. doi: 10.3389/fbioe.2023.982111. eCollection 2023.
4
Advanced Molecular and Immunological Diagnostic Methods to Detect SARS-CoV-2 Infection.用于检测新型冠状病毒感染的先进分子和免疫诊断方法
Microorganisms. 2022 Jun 10;10(6):1193. doi: 10.3390/microorganisms10061193.
5
The Application of Control Materials for Ongoing Quality Management of Next-Generation Sequencing in a Clinical Genetic Laboratory.临床遗传实验室中应用控制材料进行下一代测序的持续质量管理。
Medicina (Kaunas). 2021 May 28;57(6):543. doi: 10.3390/medicina57060543.
6
Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.实施药物基因组学检测：阿肯色儿童医院的单中心经验
J Pers Med. 2021 May 11;11(5):394. doi: 10.3390/jpm11050394.
7
"…This Has to Do With My Identity. And I Don't Want to Make it Totally Transparent." Identity Relevance in the Attitudes of Affected People and Laypersons to the Handling of High-Throughput Genomic Data.“……这与我的身份有关。而且我不想让它完全透明。”受影响人群和非专业人士对高通量基因组数据处理态度中的身份关联性
Front Sociol. 2020 Dec 1;5:532357. doi: 10.3389/fsoc.2020.532357. eCollection 2020.
8
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.冠心病、扩张型心肌病和特发性室性心动过速患者在心脏风险基因中存在重叠的致病变异模式。
PeerJ. 2021 Jan 19;9:e10711. doi: 10.7717/peerj.10711. eCollection 2021.
9
The International Collaboration for Cancer Classification and Research.国际癌症分类与研究协作组织。
Int J Cancer. 2021 Feb 1;148(3):560-571. doi: 10.1002/ijc.33260. Epub 2020 Oct 9.
10
How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?法律和政策如何促进临床护理中基因组分析和解释的质量？
J Law Med Ethics. 2020 Mar;48(1):44-68. doi: 10.1177/1073110520916995.
本文引用的文献
1
Next generation DNA sequencing and the future of genomic medicine.下一代 DNA 测序与基因组医学的未来。
Genes (Basel). 2010 May 25;1(1):38-69. doi: 10.3390/genes1010038.
2
Technical desiderata for the integration of genomic data into Electronic Health Records.将基因组数据整合到电子健康记录中的技术要求。
J Biomed Inform. 2012 Jun;45(3):419-22. doi: 10.1016/j.jbi.2011.12.005. Epub 2011 Dec 27.
3
Performance comparison of whole-genome sequencing platforms.全基因组测序平台的性能比较。
Nat Biotechnol. 2011 Dec 18;30(1):78-82. doi: 10.1038/nbt.2065.
4
Repetitive DNA and next-generation sequencing: computational challenges and solutions.重复 DNA 和新一代测序：计算挑战与解决方案。
Nat Rev Genet. 2011 Nov 29;13(1):36-46. doi: 10.1038/nrg3117.
5
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study.母体外周血游离 DNA 测序用于唐氏综合征的检测：一项国际临床验证研究。
Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.
6
Cancer drugs find a companion with new diagnostic tests.癌症药物与新型诊断测试相辅相成。
Nat Med. 2011 Oct 11;17(10):1157. doi: 10.1038/nm1011-1157.
7
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.采用主要等位基因参考序列对一个家系四重奏进行分阶段全基因组遗传风险评估。
PLoS Genet. 2011 Sep;7(9):e1002280. doi: 10.1371/journal.pgen.1002280. Epub 2011 Sep 15.
8
Whole cancer genome sequencing by next-generation methods.下一代方法进行全癌症基因组测序。
Am J Clin Pathol. 2011 Oct;136(4):527-39. doi: 10.1309/AJCPR1SVT1VHUGXW.
9
An integrated semiconductor device enabling non-optical genome sequencing.一种用于非光学基因组测序的集成半导体设备。
Nature. 2011 Jul 20;475(7356):348-52. doi: 10.1038/nature10242.
10
Integrated genomic analyses of ovarian carcinoma.卵巢癌的综合基因组分析。
Nature. 2011 Jun 29;474(7353):609-15. doi: 10.1038/nature10166.
Zotero 插件