Purpose

We provide a description of the diagnostic odyssey for a cohort of children seeking diagnosis of a rare genetic disorder in terms of the time from initial consultation to most recent visit or receipt of diagnosis, the number of tests per patient, and the types of tests received.

Methods

Retrospective chart review of 299 children seen at the Alberta Children’s Hospital (ACH) Genetics Clinic (GC) for whom the result of at least one single-gene test, gene panel, or chromosome microarray analysis (CMA) was recorded.

Results

Of 299 patients, 90 (30%) received a diagnosis in the period of the review. Patients had an average of 5.4 tests each; 236 (79%) patients received CMA; 172 (58%) patients received single-gene tests and 34 (11%) received gene panels; 167 (56%) underwent imaging/electrical activity studies. The mean observation period was 898 days (95% confidence interval [CI] 791, 1004). Among patients with visits recorded prior to visiting ACH GC, 43% of the total observation time occurred prior to the GC.

Conclusion

As genomic technologies expand, the nature of the diagnostic odyssey will change. This study has outlined the current standard of care in the ACH GC, providing a baseline against which future changes can be assessed.

中文翻译：

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（非）标准化测试：加拿大阿尔伯塔省罕见遗传病儿童的诊断之旅

目的

我们根据从初次会诊到最近一次就诊或接受诊断的时间、每位患者的检测次数以及接受的检测类型，描述了一组寻求诊断罕见遗传疾病的儿童的诊断历程.

方法

回顾性图表回顾了在阿尔伯塔儿童医院 (ACH) 遗传学诊所 (GC) 就诊的 299 名儿童，他们记录了至少一项单基因检测、基因组或染色体微阵列分析 (CMA) 的结果。

结果

在 299 名患者中，90 名（30%）在审查期间接受了诊断。患者平均每人进行 5.4 次测试；236 (79%) 名患者接受了 CMA；172 名 (58%) 患者接受了单基因检测，34 名 (11%) 患者接受了基因检测；167 (56%) 人接受了成像/电活动研究。平均观察期为 898 天（95% 置信区间 [CI] 791, 1004）。在访问 ACH GC 之前记录访问的患者中，43% 的总观察时间发生在 GC 之前。

结论

随着基因组技术的扩展，诊断奥德赛的性质将发生变化。本研究概述了 ACH GC 中当前的护理标准，提供了评估未来变化的基准。