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Why don't we all use genomic testing?

作者信息

McNeill Alisdair

机构信息

Department of Neuroscience, The University of Sheffield, Sheffield, UK.

Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.

出版信息

Eur J Hum Genet. 2023 Sep;31(9):971-972. doi: 10.1038/s41431-023-01446-1.

DOI:10.1038/s41431-023-01446-1
PMID:37558807
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10474300/
Abstract
摘要

相似文献

1
Why don't we all use genomic testing?我们为什么不都使用基因检测呢?
Eur J Hum Genet. 2023 Sep;31(9):971-972. doi: 10.1038/s41431-023-01446-1.
2
Progress report: why we still don't have a reliable gold standard for in vitro diagnostic genetic testing.进展报告:为何我们仍未拥有用于体外诊断基因检测的可靠金标准。
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Genetic oncology testing is complex, but coverage and reimbursement don't have to be.基因肿瘤学检测很复杂,但保险覆盖范围和报销流程不必如此。
Am J Manag Care. 2019 Aug;25(9 Spec No.):SP288-SP289.
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Do ask, don't tell?不问不说?
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Before progressing from "exomes" to "genomes"… don't forget splicing variants.在从“外显子组”迈向“基因组”之前……别忘了剪接变体。
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By the way, doctor... Exercise: nothing to fear. I'm 62, pretty trim, but I don't particularly enjoy exercise. My wife keeps telling me I need to be more physically active. But I've heard of several people who died during or shortly after exercise. If I don't need to lose weight, why should I expose myself to danger doing something I don't enjoy?顺便问一下,医生……运动:没什么可怕的。我62岁了,身材相当苗条,但我不太喜欢运动。我妻子一直告诉我需要多锻炼身体。但我听说有几个人在运动期间或运动后不久就去世了。如果我不需要减肥,为什么要去做自己不喜欢的事情而让自己置身于危险之中呢?
Harv Health Lett. 2001 Jan;26(3):8.
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When genetic screening for your patient with long QT syndrome comes back negative, don't always take a no for a no.当你为长QT综合征患者进行的基因筛查结果呈阴性时,不要总是把否定结果当作最终定论。
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New Sci. 1997 Jan 18;153(2065):12-3.

本文引用的文献

1
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.EMQN:遗传性心肌病和心律失常基因检测的建议。
Eur J Hum Genet. 2023 Sep;31(9):1003-1009. doi: 10.1038/s41431-023-01421-w. Epub 2023 Jul 13.
2
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.HNRNPU 种系致病性变异与血液甲基组改变有关。
Eur J Hum Genet. 2023 Sep;31(9):1040-1047. doi: 10.1038/s41431-023-01422-9. Epub 2023 Jul 5.
3
Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia.澳大利亚针对综合征性和非综合征性智力残疾的资助基因组检测的接受情况。
Eur J Hum Genet. 2023 Sep;31(9):977-979. doi: 10.1038/s41431-023-01417-6. Epub 2023 Jul 3.
4
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.SFTPB 中的功能降低的致病性变异导致成人肺纤维化。
Eur J Hum Genet. 2023 Sep;31(9):1083-1087. doi: 10.1038/s41431-023-01413-w. Epub 2023 Jun 28.
5
Episignature analysis of moderate effects and mosaics.中度效应和镶嵌体的 Episignature 分析。
Eur J Hum Genet. 2023 Sep;31(9):1032-1039. doi: 10.1038/s41431-023-01406-9. Epub 2023 Jun 26.
6
Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM).支持患者将遗传检测结果与高危亲属分享的干预措施:无荟萃分析的综合研究(SWiM)。
Eur J Hum Genet. 2023 Sep;31(9):988-1002. doi: 10.1038/s41431-023-01400-1. Epub 2023 Jun 21.
7
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.BRAT1 相关疾病:97 例患者的表型谱及表型-基因型相关性。
Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21.
8
Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome.探索CREBBP基因的基因型与表型之间的相关性:文献评论及一名具有非典型结局的额外患者的描述
Eur J Hum Genet. 2023 Sep;31(9):975-976. doi: 10.1038/s41431-023-01385-x. Epub 2023 May 29.
9
Lynch syndrome: influence of additional susceptibility variants on cancer risk.林奇综合征:附加易感性变异对癌症风险的影响。
Eur J Hum Genet. 2023 Sep;31(9):1078-1082. doi: 10.1038/s41431-023-01367-z. Epub 2023 Apr 24.
10
Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder.研究STX1A中的超罕见变异发现了一种新型神经发育障碍。
Eur J Hum Genet. 2023 Sep;31(9):973-974. doi: 10.1038/s41431-023-01348-2. Epub 2023 Apr 7.