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Appl Clin Inform 2023; 14(02): 321-325
DOI: 10.1055/s-0043-1767680
Case Report

Challenges of Integrating APOL1 Genetic Test Results into the Electronic Health Record

Luke V. Rasmussen
1   Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States
,
Akansha H. Agrawal
2   Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States
,
Paul Botsford
3   Information Services, Digital Solutions, Northwestern Medicine, Chicago, Illinois, United States
,
Andrew Powers
4   Information Services, Clinical Applications, Northwestern Medicine, Chicago, Illinois, United States
,
Jeffrey Schnoebelen
5   Information Services, Business Relationship Management, Northwestern Medicine, Chicago, Illinois, United States
,
Stavroula Xinos
6   Information Services, Digital Administration, Northwestern Medicine, Chicago, Illinois, United States
,
Gail Harper
7   Business Development and Strategic Outreach, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, Oregon, United States
,
Jane Thanner
8   Information Technology Group, Oregon Health & Science University, Portland, Oregon, United States
,
Sarah McCabe
9   Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, Oregon, United States
,
Stephen Moore
9   Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, Oregon, United States
,
Catherine A. Wicklund
10   Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States
,
Debra Duquette
2   Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States
,
Elisa J. Gordon
11   Department of Surgery, Section of Surgical Sciences, and Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, Tennessee, United States
› Author Affiliations Funding This work was funded by the NIH/National Institute of Diabetes and Digestive and Kidney Diseases (R01DK128207, PI: E.J.G.), and the Northwestern Memorial Hospital Dixon Translational Research Innovation Award (PI: E.J.G.).
› Further Information
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Abstract

Objectives Integrating genetic test results into the electronic health record (EHR) is essential for integrating genetic testing into clinical practice. This article describes the organizational challenges of integrating discrete apolipoprotein L1 (APOL1) genetic test results into the EHR for a research study on culturally sensitive genetic counseling for living kidney donors.

Methods We convened a multidisciplinary team across three institutions (Northwestern University, Northwestern Memorial HealthCare [NMHC], and OHSU Knight Diagnostic Laboratories [KDL]), including researchers, physicians, clinical information technology, and project management. Through a series of meetings over a year between the team and the genetic testing laboratory, we explored and adjusted our EHR integration plan based on regulatory and budgetary constraints.

Results Our original proposal was to transmit results from KDL to NMHC as structured data sent via Health Level Seven (HL7) v2 message. This was ultimately deemed infeasible given the time and resources required to establish the interface, and the low number of samples to be processed for the study (n = 316). We next explored the use of Epic's Care Everywhere interoperability platform, but learned it was not possible as a laboratory test ordered for a research study; even though our intent was to study the APOL1 genetic test result's clinical use and impact, test results were still considered “research results.” Faced with two remaining options—downloading a PDF from the KDL laboratory portal or scanning a faxed result from KDL—only a PDF of the APOL1 test result could be integrated into the EHR, reinforcing the status quo.

Conclusion Even with early and ongoing stakeholder engagement, dedicated project management, and funding, unanticipated implementation challenges—especially for research projects—can result in drastic design tradeoffs.

Keywords

Research - clinical laboratories - information systems - living donation - apolipoprotein L1

Protection of Human and Animal Subjects

The study was performed in compliance with the World Medical Association Declaration of Helsinki on Ethical Principles for Medical Research Involving Human Subjects. Institutional Review Boards at Northwestern University (grant no.: STU00214038) and Georgetown University (grant no.: STUDY00003752, relying on Northwestern's IRB) approved the study.




Publication History

Received: 29 November 2022

Accepted: 12 February 2023

Article published online:
26 April 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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