An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
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DOI：
10.1038/s41467-022-31446-6
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发表时间：
2022-07-26
影响因子：
16.6
通讯作者：
中科院分区：
文献类型：
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虽然许多遗传性疾病有有效的治疗方法，但如果不立即实施这些治疗，它们往往会迅速发展为严重的发病状态或导致死亡。由于一线医生往往对这些疾病缺乏了解，及时的分子诊断可能无法改善结果。在此我们描述了“基因组到治疗”（Genome - to - Treatment），这是一个用于遗传性疾病诊断和急性治疗指导的自动化虚拟系统。通过加速全基因组测序，可在13.5小时内完成诊断，对于结构变异和拷贝数变异具有优异的分析性能。一个专家小组对563种严重的儿童遗传性疾病的9911种药物、器械、饮食和手术干预措施的适应证、禁忌证、疗效和疗效证据进行了判定。保留的421种（75%）疾病和1527种（15%）有效干预措施与13种遗传性疾病信息资源整合，并附在诊断报告中（https://gtrx.radygenomiclab.com）。该系统对4例回顾性和2例前瞻性检测的婴儿做出了正确诊断。“基因组到治疗”系统有助于患有快速进展性遗传性疾病的儿童获得最佳治疗效果。
在许多遗传疾病中，快速诊断和实施治疗至关重要。在此作者描述了“基因组到治疗”，这是一个虚拟的疾病管理系统，它可以通过加速全基因组测序在13.5小时内实现快速诊断，并为临床医生提供可能的治疗指导。
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with these diseases, timely molecular diagnosis may not improve outcomes. Herein we describe Genome-to-Treatment, an automated, virtual system for genetic disease diagnosis and acute management guidance. Diagnosis is achieved in 13.5 h by expedited whole genome sequencing, with superior analytic performance for structural and copy number variants. An expert panel adjudicated the indications, contraindications, efficacy, and evidence-of-efficacy of 9911 drug, device, dietary, and surgical interventions for 563 severe, childhood, genetic diseases. The 421 (75%) diseases and 1527 (15%) effective interventions retained are integrated with 13 genetic disease information resources and appended to diagnostic reports (https://gtrx.radygenomiclab.com). This system provided correct diagnoses in four retrospectively and two prospectively tested infants. The Genome-to-Treatment system facilitates optimal outcomes in children with rapidly progressive genetic diseases. Rapid diagnosis and implementation of treatments is crucial in many genetic conditions. Here the authors describe Genome-to-Treatment, a virtual disease management system that can achieve a rapid diagnosis by expedited whole genome sequencing in 13.5 hours and provide guidance to clinicians for possible therapies.
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DOI：
10.1002/ajmg.c.31874
发表时间：
2021-03
期刊：
American journal of medical genetics. Part C, Seminars in medical genetics
影响因子：
--
作者：
Bick D;Bick SL;Dimmock DP;Fowler TA;Caulfield MJ;Scott RH
通讯作者：
Scott RH
DOI：
10.1038/gim.2016.193
发表时间：
2017-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Ceyhan-Birsoy O;Machini K;Lebo MS;Yu TW;Agrawal PB;Parad RB;Holm IA;McGuire A;Green RC;Beggs AH;Rehm HL
通讯作者：
Rehm HL
影响因子：
8
作者：
Frattarelli, Daniel A. C.;Galinkin, Jeffrey L.;Del Monte, Mark
通讯作者：
Del Monte, Mark
影响因子：
3.7
作者：
Atalaia, Antonio;Thompson, Rachel;Bonne, Gisele
通讯作者：
Bonne, Gisele
影响因子：
9.8
作者：
Dimmock, David;Caylor, Sara;Farnaes, Lauge
通讯作者：
Farnaes, Lauge