Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience
Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience
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仅先证者医学外显子组测序作为一种经济有效的一级基因诊断测试，适用于发展中国家没有事先进行分子测试和临床诊断的患者：中国经验
DOI：
10.1038/gim.2017.195
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发表时间：
2018-09-01
影响因子：
8.8
通讯作者：
Shen, Yiping
中科院分区：
文献类型：
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作者：
Hu, Xuyun;Li, Niu;Shen, Yiping
PurposeTo evaluate performance of proband-only medical exome sequencing（POMES）as a cost-effective first-tier diagnostic test for pediatric patients with pneumonia conditions.MethodsA total of 1，323 patients were tested by POMES，which targeted 2，742 known disease causing genes.先证者和父母的临床相关变异均经Sanger证实。我们评估了POMES的诊断有效性和临床效用的调查questionnaire.ResultsPOMES，下令由136名医生，确定了512致病或可能致病的变异与200多个条件。总体诊断率为28.8%，范围从新生儿重症监护室患者的10%到儿科重症监护室患者的35%以上。检测结果对45.1%的阳性患者的管理产生了影响。平均周转时间为57天，成本为$360/case.ConclusionWe采用了一种相对有效的和具有成本效益的方法在中国的分子诊断儿科患者可疑的遗传条件。虽然中国对临床遗传学家和其他专家的培训滞后，但POMES正在为那些通常在测试前不接受广泛临床评估和临床诊断的患者提供诊断均衡器。中国的经验应该适用于其他缺乏临床、财政和人力资源的发展中国家。
PurposeTo evaluate the performance of proband-only medical exome sequencing (POMES) as a cost-effective first-tier diagnostic test for pediatric patients with unselected conditions.MethodsA total of 1,323 patients were tested by POMES, which targeted 2,742 known disease-causing genes. Clinical relevant variants were Sanger-confirmed in probands and parents. We assessed the diagnostic validity and clinical utility of POMES by means of a survey questionnaire.ResultsPOMES, ordered by 136 physicians, identified 512 pathogenic or likely pathogenic variants associated with over 200 conditions. The overall diagnostic rate was 28.8%, ranging from 10% in neonatal intensive care unit patients to over 35% in pediatric intensive care unit patients. The test results had an impact on the management of the 45.1% of patients for whom there were positive findings. The average turnaround time was 57 days; the cost was $360/case.ConclusionWe adopted a relatively efficient and cost-effective approach in China for the molecular diagnosis of pediatric patients with suspected genetic conditions. While training for clinical geneticists and other specialists is lagging behind in China POMES is serving as a diagnostic equalizer for patients who do not normally receive extensive clinical evaluation and clinical diagnosis prior to testing. This Chinese experience should be applicable to other developing countries that are lacking clinical, financial, and personnel resources.