An ancillary genomics system to support the return of pharmacogenomic results

Rasmussen, Luke V.; Smith, Maureen E.; Almaraz, Federico; Persell, Stephen D.; Rasmussen‐Torvik, Laura J.; Pacheco, Jennifer A.; Chisholm, Rex L.; Christensen, Carl; Herr, Timothy M.; Wehbe, Firas; Starren, Justin

doi:10.1093/jamia/ocy187

Cited by 18 publications

(20 citation statements)

References 25 publications

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“…Three eMERGE sites have developed and implemented versions of a genomic ancillary system. A prototype ancillary genomic system to support pharmacogenomic testing and reporting was implemented at Northwestern University (Rasmussen et al, 2019). Similarly, Mayo Clinic developed a genomic data warehouse (Horton et al, 2017).…”

Section: Resultsmentioning

confidence: 99%

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

et al. 2019

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Genomic knowledge is being translated into clinical care. To fully realize the value, it is critical to place credible information in the hands of clinicians in time to support clinical decision making. The electronic health record is an essential component of clinician workflow. Utilizing the electronic health record to present information to support the use of genomic medicine in clinical care to improve outcomes represents a tremendous opportunity. However, there are numerous barriers that prevent the effective use of the electronic health record for this purpose. The electronic health record working groups of the Electronic Medical Records and Genomics (eMERGE) Network and the Clinical Genome Resource (ClinGen) project, along with other groups, have been defining these barriers, to allow the development of solutions that can be tested using implementation pilots. In this paper, we present “lessons learned” from these efforts to inform future efforts leading to the development of effective and sustainable solutions that will support the realization of genomic medicine.

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Section: Resultsmentioning

confidence: 99%

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

et al. 2019

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“…The NU use case targeted integrating FHIR results into an existing Ancillary Genomics System[28] (AGS), which was used as an intermediary platform to transmit results to the EHR. Pre-existing PGx CDS alerts were configured within the EHR to alert providers to recommendations for clopidogrel, warfarin, and simvastatin, and are available from the CDS Knowledgebase[29].…”

Section: Methodsmentioning

confidence: 99%

Genomic Considerations for FHIR; eMERGE Implementation Lessons

Murugan

Babb

Taylor

et al. 2021

Preprint

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Structured representation of clinical genetic results is necessary for advancing precision medicine. The Electronic Medical Records and Genomics (eMERGE) Network’s Phase III program initially used a commercially developed XML message format for standardized and structured representation of genetic results for electronic health record (EHR) integration. In a desire to move towards a standard representation, the network created a new standardized format based upon Health Level Seven Fast Healthcare Interoperability Resources (HL7 FHIR), to represent clinical genomics results. These new standards improve the utility of HL7 FHIR as an international healthcare interoperability standard for management of genetic data from patients. This work advances the establishment of standards that are being designed for broad adoption in the current health information technology landscape.

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“…The process of incorporating genetic test results into the electronic health record (EHR) is challenging and can be further complicated when conducted as part of a research study where integration is required with unfamiliar clinical processes. While there have been published reports about the purely technical challenges and solutions, [1][2][3][4] less has been published about unanticipated sociotechnological or practical communication challenges involved in this process. Identifying and disseminating lessons learned is a critical aspect of improving the design and implementation of health information technology, 5 and may assist others embarking on genetic implementation projects to achieve a smoother integration of genetic test results into the EHR.…”

Section: Background and Significancementioning

confidence: 99%

Solutions for Unexpected Challenges Encountered when Integrating Research Genomics Results into the EHR

et al. 2020

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Background While there have been published reports detailing technical challenges of incorporating genetic test results into the electronic health record (EHR) with proposed solutions, less has been published about unanticipated sociotechnological or practical communication challenges involved in this process. Objectives This study was aimed to describe unanticipated issues that arose returning genetic research results through the EHR as part of the National Human Genome Research Institute (NHGRI)-funded electronic Medical Records and Genomics (eMERGE) 3 consortium, and provide lessons learned for future implementations Methods We sequenced 3,000 participants on a 109-gene panel and returned genetic results initially in person and/or by letter, with a later release directly into the EHR and patient portal. Results When results were returned through the EHR, multiple participants expressed confusion and contacted the health system, resulting in our institution temporarily freezing our return of research results. Discussion We determined the likely causes of this issue to be (1) the delay between enrollment and results return, (2) inability to personalize mass e-mail messages announcing new research test results in the EHR, (3) limited space for description of test results in the EHR, and (4) the requirement to list an ordering physician for research results in the EHR. For future return of results, we propose sending preparatory e-mails to participants, including screenshots of how they can expect to see their results presented in the EHR portal. Conclusion We hope our lessons learned can provide helpful guidance to other sites implementing research genetic results into the EHR and can encourage EHR developers to incorporate greater flexibility in the future.

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An ancillary genomics system to support the return of pharmacogenomic results

Cited by 18 publications

References 25 publications

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

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

Genomic Considerations for FHIR; eMERGE Implementation Lessons

Solutions for Unexpected Challenges Encountered when Integrating Research Genomics Results into the EHR

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