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

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.

Publikationsverlauf

Eingereicht: 29. November 2022

Angenommen: 12. Februar 2023

Artikel online veröffentlicht:
26. April 2023

• References

• 1 Marsolo K. Informatics and operations--let's get integrated. J Am Med Inform Assoc 2013; 20 (01) 122-124
• 2 Welch BM, Eilbeck K, Del Fiol G, Meyer LJ, Kawamoto K. Technical desiderata for the integration of genomic data with clinical decision support. J Biomed Inform 2014; 51: 3-7
• 3 Masys DR, Jarvik GP, Abernethy NF. et al. Technical desiderata for the integration of genomic data into Electronic Health Records. J Biomed Inform 2012; 45 (03) 419-422
• 4 Kho AN, Rasmussen LV, Connolly JJ. et al. Practical challenges in integrating genomic data into the electronic health record. Genet Med 2013; 15 (10) 772-778
• 5 Ohno-Machado L, Kim J, Gabriel RA, Kuo GM, Hogarth MA. Genomics and electronic health record systems. Hum Mol Genet 2018; 27 (R1): R48-R55
• 6 Warner JL, Jain SK, Levy MA. Integrating cancer genomic data into electronic health records. Genome Med 2016; 8 (01) 113
• 7 Kanungo S, Barr J, Crutchfield P, Fealko C, Soares N. Ethical considerations on pediatric genetic testing results in electronic health records. Appl Clin Inform 2020; 11 (05) 755-763
• 8 Garcia SJ, Zayas-Cabán T, Freimuth RR. Sync for genes: making clinical genomics available for precision medicine at the point-of-care. Appl Clin Inform 2020; 11 (02) 295-302
• 9 Duong BQ, Arwood MJ, Hicks JK. et al; IGNITE Network. Development of customizable implementation guides to support clinical adoption of pharmacogenomics: experiences of the implementing GeNomics In pracTicE (IGNITE) network. Pharm Genomics Pers Med 2020; 13: 217-226
• 10 Lau-Min KS, McKenna D, Asher SB. et al. Impact of integrating genomic data into the electronic health record on genetics care delivery. Genet Med 2022; 24 (11) 2338-2350
• 11 Rasmussen LV, Smith ME, Almaraz F. et al. An ancillary genomics system to support the return of pharmacogenomic results. J Am Med Inform Assoc 2019; 26 (04) 306-310
• 12 Dunnenberger HM, Crews KR, Hoffman JM. et al. Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. Annu Rev Pharmacol Toxicol 2015; 55: 89-106
• 13 Unberath P, Mahlmeister L, Reimer N, Busch H, Boerries M, Christoph J. Searching of clinical trials made easier in cBioPortal using patients' genetic and clinical profiles. Appl Clin Inform 2022; 13 (02) 363-369
• 14 Sirajuddin AM, Osheroff JA, Sittig DF, Chuo J, Velasco F, Collins DA. Implementation pearls from a new guidebook on improving medication use and outcomes with clinical decision support. Effective CDS is essential for addressing healthcare performance improvement imperatives. J Healthc Inf Manag 2009; 23 (04) 38-45
• 15 Williams MS, Taylor CO, Walton NA. et al. Genomic information for clinicians in the electronic health record: lessons learned from the clinical genome resource project and the electronic medical records and genomics network. Front Genet 2019; 10: 1059
• 16 Hartzler A, McCarty CA, Rasmussen LV. et al. Stakeholder engagement: a key component of integrating genomic information into electronic health records. Genet Med 2013; 15 (10) 792-801
• 17 Rasmussen LV, Connolly JJ, Del Fiol G. et al. Infobuttons for genomic medicine: requirements and barriers. Appl Clin Inform 2021; 12 (02) 383-390
• 18 Cimino JJ, Elhanan G, Zeng Q. Supporting infobuttons with terminological knowledge. Proc AMIA Annu Fall Symp 1997; 528-532
• 19 Lau-Min KS, Asher SB, Chen J. et al. Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative. Genet Med 2021; 23 (04) 603-605
• 20 Caraballo PJ, Sutton JA, Giri J. et al. Integrating pharmacogenomics into the electronic health record by implementing genomic indicators. J Am Med Inform Assoc 2020; 27 (01) 154-158
• 21 Gaines CW. Be sure the juice is worth the squeeze. Am J Public Health Nations Health 1956; 46 (02) 215-216
• 22 Weng C, Appelbaum P, Hripcsak G. et al. Using EHRs to integrate research with patient care: promises and challenges. J Am Med Inform Assoc 2012; 19 (05) 684-687