Utilization of Genetic Testing Prior to Subspecialist Referral for Cerebellar Ataxia
Utilization of Genetic Testing Prior to Subspecialist Referral for Cerebellar Ataxia
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DOI：
10.1089/gtmb.2013.0005
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发表时间：
2013-08-01
影响因子：
1.4
通讯作者：
Browner, Carole H.
中科院分区：
文献类型：
--
作者：
Fogel, Brent L.;Vickrey, Barbara G.;Browner, Carole H.
目的：评价实验室检测在诊断小脑性共济失调中的应用，包括获得性病因的初始标准检测的完整性、基因检测的早期使用以及相关的临床和非临床因素，在一个亚专业咨询的队列中进行。研究方法：数据来自2006-2010年95例连续共济失调患者的记录，这些患者被转介给一名神经遗传学亚专家，并与转介临床医生特征的公开数据相关联。采用多变量logistic和线性回归模型分析临床和非临床因素与获得性病因实验室检查和转诊前早期基因检测的独特关联。结果如下：转诊时，95例患者中有27例缺乏14项实验室研究中任何一项的证据，这些研究建议对共济失调的后天原因进行初步检查（平均检查次数= 4.5）。相比之下，92%的患者在转诊前接受了脑磁共振成像。总体而言，41.1%（n = 39）在转诊前进行了基因检测;共济失调家族史与转诊前进行基因检测之间没有关联（p = 0.39）。早期基因检测的水平为31.6%，主要是由于基因检测，尽管获得性原因的实验室评估不完整，也没有家族史。阳性家族史始终与不太广泛的实验室检测相关（p = 0.004），神经科医生的转诊与早期基因检测水平较高相关。结论：在连续转介到一个中心，很大一部分散发病例进行了基因检测，没有证据表明后天原因的工作。考虑到基因检测的成本和后果，需要更好的策略来指导罕见神经系统疾病的决策和亚专科转诊。
Objective: To evaluate the utilization of laboratory testing in the diagnosis of cerebellar ataxia, including the completeness of initial standard testing for acquired causes, the early use of genetic testing, and associated clinical and nonclinical factors, among a cohort referred for subspecialty consultation. Methods: Data were abstracted from records of 95 consecutive ataxia patients referred to one neurogenetics subspecialist from 2006-2010 and linked to publicly available data on characteristics of referral clinicians. Multivariable logistic and linear regression models were used to analyze unique associations of clinical and nonclinical factors with laboratory investigation of acquired causes and with early genetic testing prior to referral. Results: At referral, 27 of 95 patients lacked evidence of any of 14 laboratory studies suggested for initial work-up of an acquired cause for ataxia (average number of tests = 4.5). In contrast, 92% of patients had undergone brain magnetic resonance imaging prior to referral. Overall, 41.1% (n = 39) had genetic testing prior to referral; there was no association between family history of ataxia and obtaining genetic testing prior to referral (p = 0.39). The level of early genetic testing was 31.6%, primarily due to genetic testing despite an incomplete laboratory evaluation for acquired causes and no family history. A positive family history was consistently associated with less extensive laboratory testing (p = 0.004), and referral by a neurologist was associated with higher levels of early genetic testing. Conclusions: Among consecutive referrals to a single center, a substantial proportion of sporadic cases had genetic testing without evidence of a work-up for acquired causes. Better strategies to guide decision making and subspecialty referrals in rare neurologic disorders are needed, given the cost and consequences of genetic testing.