Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
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DOI：
10.1542/peds.2021-054520
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发表时间：
2022-07-01
期刊：
影响因子：
8
通讯作者：
Sheppard, Sarah E.
中科院分区：
文献类型：
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作者：
Szigety, Katherine M.;Crowley, Terrence B.;Gaiser, Kimberly B.;Chen, Erin Y.;Priestley, Jessica R. C.;Williams, Lydia S.;Rangu, Sneha A.;Wright, Christina M.;Adusumalli, Priyanka;Ahrens-Nicklas, Rebecca C.;Calderon, Brandon;Cuddapah, Sanmati R.;Edmondson, Andrew;Ficicioglu, Can;Ganetzky, Rebecca;Kalish, Jennifer M.;Krantz, Ian D.;McDonald-McGinn, Donna M.;Medne, Livija;Muraresku, Colleen;Pyle, Louise C.;Zackai, Elaine H.;Campbell, Ian M.;Sheppard, Sarah E.
远程医疗是一个拟议的解决方案，以增加获得医疗遗传护理。然而，在儿科环境中，由于畸形体格检查的重要性，远程医疗如何影响诊断率尚不清楚。因此，我们研究了远程医疗对疑似或确诊遗传性疾病患者的临床有效性。我们进行了一项回顾性队列研究，在广泛实施远程医疗（n=5854）之前和之后的门诊就诊。从电子健康记录中获取访视类型、诊断、患者人口统计学和实验室数据。患者满意度进行了评估，使用调查的答复。新的分子诊断是主要终点。接受远程医疗的患者更有可能报告非西班牙裔白色血统，更喜欢说英语，生活在收入中位数较高的邮政编码中，并拥有商业保险（每个p<0.01）。通过远程医疗评估的患者比亲自评估的患者更多（79.5% vs 70.9%，p<0.001）。然而，亲自就诊的患者更有可能收集样本，导致类似的测试完成率（远程医疗为51.2%，亲自就诊为55.1%，p=0.09）。最终，不同就诊方式之间的分子诊断率没有显著差异（远程医疗为13.8%，面对面为12.4%，p=0.40）。远程医疗和传统的面对面评估导致相似的分子诊断率。然而，可能需要改进远程样本采集方法。本研究证明了远程医疗在大型学术医学遗传学实践中的可行性，并适用于其他儿科专业，认为体检的重要性。在一个学术中心实施基于远程医疗的遗传学护理后，我们分析了面对面与虚拟评估的诊断时间轴和分子诊断率。
Telemedicine is one proposed solution to increase access to medical genetics care. However, in the pediatric setting, it is unknown how telemedicine may impact the diagnostic rate due to the importance of the dysmorphology physical exam. Therefore, we studied the clinical effectiveness of telemedicine for patients with suspected or confirmed genetic conditions. We conducted a retrospective cohort study of outpatient encounters before and after the widespread implementation of telemedicine (n=5854 total). Visit types, diagnoses, patient demographics and laboratory data were acquired from the electronic health record. Patient satisfaction was assessed using survey responses. New molecular diagnosis was the primary endpoint. Patients seen by telemedicine were more likely to report non-Hispanic white ancestry, prefer to speak English, live in zip codes with higher median incomes, and have commercial insurance (each p<0.01). Genetic testing was recommended for more patients evaluated by telemedicine than in-person (79.5% vs 70.9%, p<0.001). However, patients seen in person were more likely to have a sample collected, resulting in similar test completion rates (51.2% for telemedicine vs. 55.1% for in-person, p=0.09). Ultimately, there was no significant difference in molecular diagnosis rate between visit modalities (13.8% for telemedicine vs 12.4% for in-person, p=0.40). Telemedicine and traditional in-person evaluation resulted in similar molecular diagnosis rates. However, improved methodologies for remote sample collection may be required. This study demonstrates the feasibility of telemedicine in a large academic medical genetics practice and is applicable to other pediatric specialties with perceived importance of physical examination. Following the implementation of telemedicine-based genetics care at an academic center, we analyze the diagnostic timeline and molecular diagnosis rate for in-person versus virtual evaluations.
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影响因子：
4.7
作者：
Gattas, MR;MacMillan, JC;Wootton, R
通讯作者：
Wootton, R
影响因子：
8.8
作者：
Zilliacus, Elvira M.;Meiser, Bettina;Tucker, Katherine M.
通讯作者：
Tucker, Katherine M.
影响因子：
8.8
作者：
Lea, DH;Johnson, JL;Smith, R
通讯作者：
Smith, R
影响因子：
0.9
作者：
Hopper, Bruce;Buckman, Melissa;Edwards, Matthew
通讯作者：
Edwards, Matthew
遗传学劳动力：遗传学服务的分布和加利福尼亚州医疗保健的挑战。
DOI：
10.1038/s41436-019-0628-5
发表时间：
2020-01
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
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