Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington 99207, USA.
Pediatrics. 2012 Nov;130(5):e1085-95. doi: 10.1542/peds.2012-0568. Epub 2012 Oct 15.
To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results.
A total of 46,298 postnatal patients were tested by chromosomal microarray analysis for a variety of indications, most commonly intellectual disability/developmental delay, congenital anomalies, dysmorphic features, and neurobehavioral problems. The frequency of detection of abnormalities associated with actionable clinical features was tallied, and the rate of physician response to a subset of abnormal tests results was monitored.
A total of 2088 diagnoses were made of more than 100 different disorders that have specific clinical features that warrant follow-up. The detection rate for these conditions using high-resolution whole-genome microarrays was 5.4%, which translates to 35% of all clinically significant abnormal test results identified in our laboratory. In a subset of cases monitored for physician response, appropriate clinical action was taken more than 90% of the time as a direct result of the microarray finding.
The disorders diagnosed by chromosomal microarray analysis frequently have clinical features that need medical attention, and physicians respond to the diagnoses with specific clinical actions, thus arguing that microarray testing provides clinical utility for a significant number of patients tested.
验证假设，即染色体微阵列分析经常诊断出需要特定医疗随访的病症，且主治医生会对异常检测结果做出适当回应。
对 46298 名出生后的患者进行了染色体微阵列分析，检测原因多种多样，最常见的是智力障碍/发育迟缓、先天畸形、畸形特征和神经行为问题。对与可采取行动的临床特征相关的异常的检出频率进行了统计，并监测了对一组异常检测结果的医生回应率。
共诊断出 2088 例 100 多种不同疾病，这些疾病都具有特定的临床特征，需要进行随访。使用高分辨率全基因组微阵列检测这些疾病的检出率为 5.4%，相当于我们实验室发现的所有具有临床意义的异常检测结果的 35%。在监测医生回应的部分病例中，由于微阵列的发现，超过 90%的情况下采取了适当的临床行动。
染色体微阵列分析诊断出的疾病通常具有需要医疗关注的临床特征，医生会根据诊断做出特定的临床行动，因此证明微阵列检测对大量接受检测的患者具有临床效用。
