美国医学遗传学与基因组学学会次要发现2.0 - Suppr

ACMG secondary findings 2.0.

作者信息

Biesecker Leslie G

机构信息

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

出版信息

Genet Med. 2017 May;19(5):604. doi: 10.1038/gim.2017.27. Epub 2017 Apr 13.

DOI:10.1038/gim.2017.27

PMID:28406490

Abstract

摘要

相似文献

ACMG secondary findings 2.0.美国医学遗传学与基因组学学会次要发现2.0

Genet Med. 2017 May;19(5):604. doi: 10.1038/gim.2017.27. Epub 2017 Apr 13.

On the justifiability of ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.关于美国医学遗传学与基因组学学会（ACMG）对临床外显子组和基因组测序中偶然发现报告的建议的合理性

J Law Med Ethics. 2015 Spring;43(1):134-42. doi: 10.1111/jlme.12201.

Who's on first in exome and whole genome sequencing? Is it the patient or the incidental findings?在全外显子组测序和全基因组测序中，谁占主导地位？是患者还是偶然发现的结果？

Mol Genet Metab. 2013 Sep-Oct;110(1-2):1-2. doi: 10.1016/j.ymgme.2013.06.001. Epub 2013 Jun 7.

Achieving high-sensitivity for clinical applications using augmented exome sequencing.使用增强外显子组测序实现临床应用的高灵敏度。

Genome Med. 2015 Jul 16;7(1):71. doi: 10.1186/s13073-015-0197-4. eCollection 2015.

Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing.最小化 ACMG 建议中报告临床外显子组和基因组测序偶然发现的责任风险。

Genet Med. 2013 Dec;15(12):915-20. doi: 10.1038/gim.2013.135. Epub 2013 Sep 12.

Understanding variations in secondary findings reporting practices across U.S. genome sequencing laboratories.了解美国基因组测序实验室次要发现报告实践的差异。

AJOB Empir Bioeth. 2018 Jan-Mar;9(1):48-57. doi: 10.1080/23294515.2017.1405095. Epub 2017 Dec 21.

TAPES: A tool for assessment and prioritisation in exome studies.TAPES：外显子组研究中的评估和优先级工具。

PLoS Comput Biol. 2019 Oct 15;15(10):e1007453. doi: 10.1371/journal.pcbi.1007453. eCollection 2019 Oct.

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG).美国医学遗传学与基因组学学会（ACMG）关于将ACMG次要发现建议用于普通人群筛查的政策声明。

Genet Med. 2019 Jul;21(7):1467-1468. doi: 10.1038/s41436-019-0502-5. Epub 2019 Apr 25.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.临床测序探索性研究联盟中九个实验室对ACMG-AMP变异解读指南的执行情况。

Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12.

Secondary findings: How did we get here, and where are we going?次要发现：我们如何走到这一步，又将走向何方？

J Genet Couns. 2019 Apr;28(2):326-333. doi: 10.1002/jgc4.1098. Epub 2019 Mar 1.

引用本文的文献

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.对3972名个体样本的全外显子组测序（WES）数据进行的具有医学可操作性的次要发现

Int J Mol Sci. 2025 Apr 9;26(8):3509. doi: 10.3390/ijms26083509.

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).从 ES 中获取次要发现的人群的期望、需求和中期结果：法国混合研究（FIND 研究）的第一部分。

Eur J Hum Genet. 2024 Sep;32(9):1166-1183. doi: 10.1038/s41431-024-01616-9. Epub 2024 May 27.

Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.致心律失常性右心室心肌病基因中的可操作性次要发现：遗传咨询的影响与挑战

Cardiovasc Diagn Ther. 2021 Apr;11(2):637-649. doi: 10.21037/cdt-20-585.

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.对与原发性心律失常综合征相关基因的次要发现的批判性评估。

Hum Mutat. 2020 May;41(5):1025-1032. doi: 10.1002/humu.23996. Epub 2020 Feb 18.

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.在一个大型癌症队列和种族匹配对照中，ACMG 次要发现 v2.0 列表中 24 个癌症基因的致病性/可能致病性变异的流行率。

Genome Med. 2018 Dec 24;10(1):99. doi: 10.1186/s13073-018-0607-5.

Informed Consent in Translational Genomics: Insufficient Without Trustworthy Governance.转化基因组学中的知情同意：缺乏可靠治理则不足。

J Law Med Ethics. 2018 Mar;46(1):79-86. doi: 10.1177/1073110518766023. Epub 2018 Mar 27.

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