Impact of integrating genomic data into the electronic health record on genetics care delivery.
Impact of integrating genomic data into the electronic health record on genetics care delivery.
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DOI：
10.1016/j.gim.2022.08.009
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发表时间：
2022-11
影响因子：
8.8
通讯作者：
Nathanson, Katherine L.
中科院分区：
文献类型：
--
作者：
Lau-Min, Kelsey S.;McKenna, Danielle;Asher, Stephanie Byers;Bardakjian, Tanya;Wollack, Colin;Bleznuck, Joseph;Biros, Daniel;Anantharajah, Arravinth;Clark, Dana F.;Condit, Courtney;Ebrahimzadeh, Jessica E.;Long, Jessica M.;Powers, Jacquelyn;Raper, Anna;Schoenbaum, Anna;Feldman, Michael;Steinfeld, Lauren;Tuteja, Sony;VanZandbergen, Christine;Domchek, Susan M.;Ritchie, Marylyn D.;Landgraf, Jeffrey;Chen, Jessica;Nathanson, Katherine L.
将基因组数据整合到电子健康记录（EHR）中是优化基因组医学的关键。宾夕法尼亚大学的PennChart Genomics Initiative（PGI）是一个多学科合作项目，成功地将基因检测实验室的订单和结果与EHR中的离散基因数据联系起来。我们量化了EHR中基因组数据的使用，与遗传咨询师进行了时间研究，并与PGI成员进行了关键的线人访谈，以评估PGI对遗传护理服务的影响。PGI与四个基因检测实验室建立了接口，创建了420个独特的计算机化基因检测订单，迄今已使用4，073次。在一项对96项基因检测活动的时间研究中，与使用在线实验室特定门户网站相比，使用EHR与订购（2 vs 8分钟，p<0.001）和管理（1 vs 5分钟，p<0.001）基因结果所花费的时间显著减少相关。在关键的知情人访谈中，多学科合作和机构买入被确定为PGI成功的关键因素。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交付。
Integrating genomic data into the electronic health record (EHR) is key to optimally delivering genomic medicine. 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 usage 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 impact of the PGI’s efforts on genetics care delivery. The PGI has interfaced with four genetic testing laboratories, resulting in the creation of 420 unique computerized genetic testing orders that have been used 4,073 times to date. In a time study of 96 genetic testing activities, EHR utilization was associated with significant reductions in time spent ordering (2 vs 8 minutes, p<0.001) and managing (1 vs 5 minutes, p<0.001) genetic results compared to 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. The PGI’s efforts to integrate genomic medicine into the EHR have substantially streamlined the delivery of genomic medicine.
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影响因子：
64.8
作者：
Green ED;Gunter C;Biesecker LG;Di Francesco V;Easter CL;Feingold EA;Felsenfeld AL;Kaufman DJ;Ostrander EA;Pavan WJ;Phillippy AM;Wise AL;Dayal JG;Kish BJ;Mandich A;Wellington CR;Wetterstrand KA;Bates SA;Leja D;Vasquez S;Gahl WA;Graham BJ;Kastner DL;Liu P;Rodriguez LL;Solomon BD;Bonham VL;Brody LC;Hutter CM;Manolio TA
通讯作者：
Manolio TA
DOI：
10.1093/jamia/ocac057
发表时间：
2022-04-29
影响因子：
6.4
作者：
Wiley, Ken;Findley, Laura;Williams, Marc S.
通讯作者：
Williams, Marc S.
DOI：
10.1038/s41436-020-01056-y
发表时间：
2021-04
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Lau-Min KS;Asher SB;Chen J;Domchek SM;Feldman M;Joffe S;Landgraf J;Speare V;Varughese LA;Tuteja S;VanZandbergen C;Ritchie MD;Nathanson KL
通讯作者：
Nathanson KL
影响因子：
4.5
作者：
Masys, Daniel R.;Jarvik, Gail P.;Levy, Howard P.
通讯作者：
Levy, Howard P.
影响因子：
8.8
作者：
Grebe, Theresa A.;Khushf, George;Seaver, Laurie H.
通讯作者：
Seaver, Laurie H.