The Role of Genetic Testing in Avoiding Diagnostic Delays in Inherited Retinal Disease.
The Role of Genetic Testing in Avoiding Diagnostic Delays in Inherited Retinal Disease.
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基因检测在避免遗传性视网膜疾病诊断延迟方面的作用。
DOI：
10.1097/icb.0000000000001436
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发表时间：
2023
影响因子：
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通讯作者：
Couser,NatarioL
中科院分区：
文献类型：
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作者：
Shah,ArthH;Park,Elisse;Luke,Tammy;Xu,Qingguo;Jewell,Ann;Couser,NatarioL
目的：为了识别和突出潜在的诊断延误，并改善转诊疑似ird患者进行专科治疗的提供者的特征，我们对眼科遗传学专业服务所见的ird患者进行了分析。此外，我们分析了基因检测对IRD患者的诊断率，并将这些信息与其他先前的研究进行了比较。方法：我们分析了一家三级医院眼科遗传学专业服务处131例疑似IRDs的连续患者。评估了提供者转诊模式、诊断延误和基因检测的诊断率。结果：队列的平均年龄为24岁。在接受基因检测的51例患者中，诊断率为69%。其中，基因检测显示51%的患者有不正确的初始转诊临床诊断。获得正确诊断的平均延迟时间为15年。眼科医生代表了最大的转诊基础，占80%，其次是神经科医生，占转诊的5%。儿科和视网膜专家是眼科亚专科最大的转诊，分别占44%和35%。结论：大量患者在获得正确诊断方面经历了长时间的延迟，这主要是由于启动基因评估和测试过程的延迟。大量病例的初步临床疑似诊断不正确，表明患者可能无法及时获得适当的复发风险咨询、相关的教育资源、综合征病例的专科转诊和临床试验资格。
Purpose:To identify and highlight potential delays in diagnosis and improve the characterization of the providers referring individuals affected with suspected IRDs for specialty care, we performed an analysis of the patients with IRDs seen by an ophthalmic genetics specialty service. In addition, we analyzed the diagnostic yield of genetic testing in patients with IRD in our series and compared this information with other previous studies.Methods:We analyzed 131 consecutive patients with suspected IRDs referred to an ophthalmic genetics specialty service at a tertiary hospital. Provider referral patterns, delays in diagnosis and the diagnostic yield of genetic testing were evaluated.Results:Mean age in the cohort was 24 years. From the 51 patients that underwent genetic testing, the diagnostic yield was 69%. Of these, genetic testing revealed 51% of patients had an incorrect initial referral clinical diagnosis. The average delay to reach a correct diagnosis was 15 years. Ophthalmologists represented the largest referral base at 80%, followed by neurologists representing 5% of referrals. Pediatric and retinal specialists were the largest referral of ophthalmic subspecialties at 44% and 35%, respectively.Conclusion:A significant number of patients experienced a prolonged delay in reaching a correct diagnosis largely due to a delay in initiating the genetic evaluation and testing process. The initial suspected clinical diagnosis was incorrect in a significant number of cases, revealing that affected patients were potentially denied from appropriate recurrence risk counseling, relevant educational resources, specialty referrals in syndromic cases, and clinical trial eligibility in a timely manner.