Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
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DOI：
10.1038/s41436-020-00963-4
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发表时间：
2021-01
期刊：
影响因子：
--
通讯作者：
Quinlan C
中科院分区：
文献类型：
--
作者：
Jayasinghe K;Stark Z;Kerr PG;Gaff C;Martyn M;Whitlam J;Creighton B;Donaldson E;Hunter M;Jarmolowicz A;Johnstone L;Krzesinski E;Lunke S;Lynch E;Nicholls K;Patel C;Prawer Y;Ryan J;See EJ;Talbot A;Trainer A;Tytherleigh R;Valente G;Wallis M;Wardrop L;West KH;White SM;Wilkins E;Mallett AJ;Quinlan C
确定外显子组测序 (ES) 对疑似单基因肾病患者的诊断率和临床影响。我们在澳大利亚墨尔本四家三级医院的多学科肾脏遗传学诊所对 204 名患者进行了前瞻性确定的队列评估，并进行了临床认可的单例 ES 治疗。 ES 对 80 名 (39%) 患者进行了分子诊断，涵盖 35 种不同的遗传性疾病。就诊时的年龄较小与 ES 诊断独立相关 (p<0.001)。在确诊患者中，31/80 (39%) 的临床诊断发生了变化。 47/80 (59%) 的人认为 ES 诊断有助于治疗，包括 10/80 (13%) 的人不需要进行诊断性肾活检，35/80 (44%) 的人改变监测，16/80 (20%) 的人改变治疗计划。在先证者管理没有改变的情况下，ES 结果对家庭成员的管理有影响（26/33 (79%)）。随后向 40/80 的家庭（50%）提供了级联测试。在这个疑似单基因肾病的实用儿科和成人队列中，ES 具有很高的诊断和临床实用性。我们的研究结果，包括阳性诊断的预测因素，可用于指导临床实践和卫生服务设计。
To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia. ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p < 0.001). Of those diagnosed, 31/80 (39%) had a change in their clinical diagnosis. ES diagnosis was considered to have contributed to management in 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%), changing surveillance in 35/80 (44%), and changing the treatment plan in 16/80 (20%). In cases with no change to management in the proband, the ES result had implications for the management of family members in 26/33 (79%). Cascade testing was subsequently offered to 40/80 families (50%). In this pragmatic pediatric and adult cohort with suspected monogenic kidney disease, ES had high diagnostic and clinical utility. Our findings, including predictors of positive diagnosis, can be used to guide clinical practice and health service design.
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影响因子：
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作者：
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DOI：
10.1038/nrneph.2017.167
发表时间：
2018-03
期刊：
Nature reviews. Nephrology
影响因子：
--
作者：
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通讯作者：
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