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

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

Kelsey S Lau-Min  1 , Danielle McKenna  1 , Stephanie Byers Asher  2 , Tanya Bardakjian  3 , Colin Wollack  4 , Joseph Bleznuck  4 , Daniel Biros  4 , Arravinth Anantharajah  1 , Dana F Clark  1 , Courtney Condit  2 , Jessica E Ebrahimzadeh  1 , Jessica M Long  1 , Jacquelyn Powers  1 , Anna Raper  2 , Anna Schoenbaum  4 , Michael Feldman  5 , Lauren Steinfeld  6 , Sony Tuteja  2 , Christine VanZandbergen  4 , Susan M Domchek  7 , Marylyn D Ritchie  8 , Jeffrey Landgraf  4 , Jessica Chen  4 , Katherine L Nathanson  9
Affiliations

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

Kelsey S Lau-Min et al. Genet Med. 2022 Nov.

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.

Keywords: Electronic health record; Genomics; Integration.

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Conflict of interest statement

Conflict of Interest K.S.L.-M. has an immediate family member who is employed by GlaxoSmithKline. All other authors declare no conflict of interest.

Figures

Figure 1.
Figure 1.
Timeline of PennChart Genomics Initiative activities. CPOE = computerized provider order entry.
Figure 2A.
Figure 2A.
Example screen shot for computerized provider order entry of a cancer predisposition panel.
Figure 2B.
Figure 2B.
Example screen shot for computerized provider order entry of a cardiomyopathy panel.
Figure 2C.
Figure 2C.
Example screen shot for discrete reporting of a likely pathogenic genetic test result.
Figure 2D.
Figure 2D.
Example screen shot for discrete reporting of a variant of uncertain significance.
Figure 2E.
Figure 2E.
Example screen shot for discrete reporting of a negative genetic test result.
Figure 2F.
Figure 2F.
Example screen shot for discrete reporting of a pharmacogenetic test result.
Figure 3.
Figure 3.
Trends in computerized genetic test orders placed in the electronic health record (EHR) over time.
Figure 4A.
Figure 4A.
Time spent on order entry and result management for genetic tests handled within the electronic health record (EHR) compared to online laboratory-specific portals for all genetic testing activities.
Figure 4B.
Figure 4B.
Time spent on order entry and result management for genetic tests handled within the electronic health record (EHR) compared to online laboratory-specific portals for genetic tests ordered and resulted from Ambry Genetics.
See this image and copyright information in PMC

References

    1. National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. 2020.
    1. National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Colorectal. 2020.
    1. Bianchi DW, Chiu RWK. Sequencing of Circulating Cell-free DNA during Pregnancy. N Engl J Med. 2018;379(5):464–473. - PMC - PubMed
    1. Scott SA, Sangkuhl K, Stein CM, et al. Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update. Clin Pharmacol Ther. 2013;94(3):317–323. - PMC - PubMed
    1. Relling MV, McDonagh EM, Chang T, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype. Clin Pharmacol Ther. 2014;96(2):169–174. - PMC - PubMed

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