PURPOSE A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs). METHODS Two hundred one unrelated children (0-5 years old) with IEDs were ascertained through the database of the North West Genomic Laboratory Hub, Manchester, UK. The cohort was collected over a 7-year period (2011-2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis, 28 with bilateral anterior segment dysgenesis, 32 with albinism, and 59 with inherited retinal disorders. All participants underwent panel-based genetic testing. RESULTS The diagnostic yield of genetic testing for the cohort was 64% (ranging from 39% to 91% depending on the condition). The test result led to altered management (including preventing additional investigations or resulting in the introduction of personalized surveillance measures) in 33% of probands (75% for ectopia lentis, 50% for cataracts, 33% for inherited retinal disorders, 7% for anterior segment dysgenesis, 3% for albinism). CONCLUSION Genetic testing helped identify an etiological diagnosis in the majority of preschool children with IEDs. This prevented additional unnecessary testing and provided the opportunity for anticipatory guidance in significant subsets of patients.

中文翻译：

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基因检测在 201 名患有遗传性眼病的学龄前儿童中的临床应用。

目的 在所有基因测试中要考虑的一个关键特性是临床实用性，即测试影响患者管理和健康结果的能力。在这里，我们评估了基因检测在各种儿科遗传性眼病 (IED) 中的当前临床效用。方法 通过英国曼彻斯特西北基因组实验室中心的数据库确定了 201 名无关儿童（0-5 岁）的 IED。该队列在 7 年期间（2011-2018 年）收集，包括 74 名双侧白内障儿童、8 名双侧晶状体异位症、28 名双侧眼前节发育不全、32 名白化病和 59 名遗传性视网膜疾病。所有参与者都接受了基于小组的基因检测。结果 该队列基因检测的诊断率为 64%（范围从 39% 到 91%，具体取决于病情）。测试结果导致 33% 的先证者（晶状体异位症 75%，白内障 50%，遗传性视网膜疾病 33%，前部视网膜疾病 7%节段发育不全，白化病为 3%）。结论 基因检测有助于确定大多数 IED 学龄前儿童的病因诊断。这防止了额外的不必要的测试，并为重要的患者亚群提供了预期指导的机会。测试结果导致 33% 的先证者（晶状体异位症 75%，白内障 50%，遗传性视网膜疾病 33%，前部视网膜疾病 7%节段发育不全，白化病为 3%）。结论 基因检测有助于确定大多数 IED 学龄前儿童的病因诊断。这防止了额外的不必要的测试，并为重要的患者亚群提供了预期指导的机会。测试结果导致 33% 的先证者（晶状体异位症 75%，白内障 50%，遗传性视网膜疾病 33%，前部视网膜疾病 7%节段发育不全，白化病为 3%）。结论 基因检测有助于确定大多数 IED 学龄前儿童的病因诊断。这防止了额外的不必要的测试，并为重要的患者亚群提供了预期指导的机会。