Retrospective file review shows limited genetic services fails most patients - an argument for the implementation of exome sequencing as a first-tier test in resource-constraint settings.
Retrospective file review shows limited genetic services fails most patients - an argument for the implementation of exome sequencing as a first-tier test in resource-constraint settings.
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DOI：
10.1186/s13023-023-02642-4
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发表时间：
2023-04-12
影响因子：
3.7
通讯作者：
Lombard, Zane
中科院分区：
文献类型：
--
作者：
Wiener, Emma K.;Buchanan, James;Krause, Amanda;Lombard, Zane
关键词：
外显子组测序被推荐作为发育迟缓或智力残疾患者的一线研究。由于实施成本高昂，这一办法尚未在包括非洲在内的大多数资源有限的环境中实施。相反，患者获得的服务和检测选择有限。在这里，我们评估了有限的基因检测策略的有效性，并将结果与外显子组测序的结果进行了对比。对南非一家医学遗传学诊所的934例患者档案进行的回顾性审计显示，83%的患者以发育迟缓为临床特征。患者可分为三组，代表不同的诊断途径。A组患者（18%;平均检测费用131美元）在简单、廉价的检测后被证实为非整倍体。患者组B（25%;平均测试成本140美元）与临床可识别的条件，但只有39%的人收到了遗传诊断确认，由于有限的测试选项。患者组C-最大的一组（57%;平均测试成本337美元）-表现为异质性条件和DD，92%在进行有限的可用测试后仍未确诊。DD患者是南非医学遗传学诊所中最大的患者群体。当临床特征不明显时，有限的测试选项极大地限制了诊断率。成本和时间分析显示，大多数患者将受益于一线外显子组测序，减少他们的个人诊断过程。在线版本包含补充材料，可通过10.1186/s13023 - 023 - 02642 - 4获得。
Exome sequencing is recommended as a first-line investigation for patients with a developmental delay or intellectual disability. This approach has not been implemented in most resource-constraint settings, including Africa, due to the high cost of implementation. Instead, patients have limited access to services and testing options. Here, we evaluate the effectiveness of a limited genetic testing strategy and contrast the findings to a conceivable outcome if exome sequencing were available instead. A retrospective audit of 934 patient files presenting to a medical genetics clinic in South Africa showed that 83% of patients presented with developmental delay as a clinical feature. Patients could be divided into three groups, representing distinct diagnostic pathways. Patient Group A (18%; mean test cost $131) were confirmed with aneuploidies, following a simple, inexpensive test. Patient Group B (25%; mean test cost $140) presented with clinically recognizable conditions but only 39% received a genetic diagnostic confirmation due to limited testing options. Patient Group C – the largest group (57%; mean test cost $337) – presented with heterogenous conditions and DD, and 92% remained undiagnosed after limited available testing was performed. Patients with DD are the largest group of patients seen in medical genetics clinics in South Africa. When clinical features are not distinct, limited testing options drastically restricts diagnostic yield. A cost- and time analysis shows most patients would benefit from first-line exome sequencing, reducing their individual diagnostic odysseys. The online version contains supplementary material available at 10.1186/s13023-023-02642-4.
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