Genetic test utilization and diagnostic yield in adult patients with neurological disorders
Genetic test utilization and diagnostic yield in adult patients with neurological disorders
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DOI：
10.1007/s10048-018-0544-x
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发表时间：
2018-05-01
期刊：
影响因子：
2.2
通讯作者：
Gonzalez-Alegre, Pedro
中科院分区：
文献类型：
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作者：
Bardakjian, Tanya M.;Helbig, Ingo;Gonzalez-Alegre, Pedro
为了确定不同基因检测方式在神经系统疾病成人患者中的诊断率，我们评估了2016年1月至2017年4月期间在宾夕法尼亚大学门诊神经病学实践中进行遗传诊断评估的所有成人患者，作为新创建的宾夕法尼亚神经遗传学计划的一部分。受试者通过我们的电子医疗系统确定为在此期间由该计划的单一临床遗传顾问评估的受试者。宾夕法尼亚大学神经遗传学项目在不同的环境中对377名患者进行了评估，并推荐了基因检测。其中，182例（48%）在专科诊所就诊，195例（52%）在普通神经遗传学诊所就诊。超过80%的推荐患者完成了基因检测。诊断率为32%的疾病组。按测试模式分层，定向测试（50%）和阵列比较基因组杂交（45%）的产量最高，其次是基因组和外显子组测试（各25%）。总之，基因检测可以在临床上成功地要求在大多数成年患者。年龄不是遗传诊断评价的限制因素，并且表型间临床检测的产率（近30%）与以前的表型集中或基于研究的研究一致。这些结果应该为临床试验的具体指南的制定提供信息，并作为改善保险支付者报销的证据。
To determine the diagnostic yield of different genetic test modalities in adult patients with neurological disorders, we evaluated all adult patients seen for genetic diagnostic evaluation in the outpatient neurology practice at the University of Pennsylvania between January 2016 and April 2017 as part of the newly created Penn Neurogenetics Program. Subjects were identified through our electronic medical system as those evaluated by the Program's single clinical genetic counselor in that period. A total of 377 patients were evaluated by the Penn Neurogenetics Program in different settings and genetic testing recommended. Of those, 182 (48%) were seen in subspecialty clinic setting and 195 (52%) in a General Neurogenetics Clinic. Genetic testing was completed in over 80% of patients in whom it was recommended. The diagnostic yield was 32% across disease groups. Stratified by testing modality, the yield was highest with directed testing (50%) and array comparative genomic hybridization (45%), followed by gene panels and exome testing (25% each). In conclusion, genetic testing can be successfully requested in clinic in a large majority of adult patients. Age is not a limiting factor for a genetic diagnostic evaluation and the yield of clinical testing across phenotypes (almost 30%) is consistent with previous phenotype-focused or research-based studies. These results should inform the development of specific guidelines for clinical testing and serve as evidence to improve reimbursement by insurance payers.