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将基因组数据整合到电子健康记录中对遗传护理服务的影响。

Impact of integrating genomic data into the electronic health record on genetics care delivery.

机构信息

Division of Hematology and Oncology, Department of Medicine, Perelman School of Medicine, Penn Medicine, University of Pennsylvania, Philadelphia, PA.

Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, Penn Medicine, University of Pennsylvania, Philadelphia, PA.

出版信息

Genet Med. 2022 Nov;24(11):2338-2350. doi: 10.1016/j.gim.2022.08.009. Epub 2022 Sep 15.

Abstract

PURPOSE

Integrating genomic data into the electronic health record (EHR) is key for optimally delivering genomic medicine.

METHODS

The PennChart Genomics Initiative (PGI) at the University of Pennsylvania is a multidisciplinary collaborative that has successfully linked orders and results from genetic testing laboratories with discrete genetic data in the EHR. We quantified the use of the genomic data within the EHR, performed a time study with genetic counselors, and conducted key informant interviews with PGI members to evaluate the effect of the PGI's efforts on genetics care delivery.

RESULTS

The PGI has interfaced with 4 genetic testing laboratories, resulting in the creation of 420 unique computerized genetic testing orders that have been used 4073 times to date. In a time study of 96 genetic testing activities, EHR use was associated with significant reductions in time spent ordering (2 vs 8 minutes, P < .001) and managing (1 vs 5 minutes, P < .001) genetic results compared with the use of online laboratory-specific portals. In key informant interviews, multidisciplinary collaboration and institutional buy-in were identified as key ingredients for the PGI's success.

CONCLUSION

The PGI's efforts to integrate genomic medicine into the EHR have substantially streamlined the delivery of genomic medicine.

摘要

目的

将基因组数据整合到电子健康记录(EHR)中是优化提供基因组医学的关键。

方法

宾夕法尼亚大学的 PennChart 基因组学倡议(PGI)是一个多学科合作项目,成功地将遗传检测实验室的订单和结果与 EHR 中的离散遗传数据联系起来。我们量化了 EHR 中基因组数据的使用情况,对遗传咨询师进行了时间研究,并对 PGI 成员进行了关键意见访谈,以评估 PGI 努力对遗传护理提供的影响。

结果

PGI 已经与 4 个遗传检测实验室接口,创建了 420 个独特的计算机化遗传检测订单,迄今为止已使用了 4073 次。在对 96 项遗传检测活动的时间研究中,与使用在线特定于实验室的门户相比,EHR 的使用与以下方面的时间显著减少有关:订购(2 分钟与 8 分钟,P<.001)和管理(1 分钟与 5 分钟,P<.001)遗传结果。在关键意见访谈中,多学科合作和机构认同被确定为 PGI 成功的关键因素。

结论

PGI 将基因组医学整合到 EHR 中的努力大大简化了基因组医学的提供。

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