Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Health Record

Abstract

Recent successes in the use of gene sequencing for patient care highlight the potential of genomic medicine. For genomics to become a part of usual care, pertinent elements of a patient's genomic test must be communicated to the most appropriate care providers. Electronic medical records may serve as a useful tool for storing and disseminating genomic data. Yet, the structure of existing EMRs and the nature of genomic data pose a number of pragmatic and ethical challenges in their integration. Through a review of the recent genome-EMR integration literature, we explore concrete examples of these challenges, categorized under four key questions: What data will we store? How will we store it? How will we use it? How will we protect it? We conclude that genome-EMR integration requires a rigorous, multi-faceted and interdisciplinary approach of study. Problems facing the field are numerous, but few are intractable.

The Gatekeeping Function in Personalized Medicine Initiatives

“…In other projects like MyCode, MedSeq and UK10K, which might or might not offer the possibility of genetic counselling at the time of results disclosure, a gatekeeper can plan to document whether counselling happened as part of disclosure. Ideally, results should be returned in-person by a general practitioner, or, a trained genetic counsellor assisted by mixed-media educational tools [42].…”

“…The exact nature of the analysis will vary depending on the project, and can include a very broad approach, such as whole genome/exome genotyping and sequencing, or be more targeted via the use of gene panels or filters [59]. As with most research, it is expected that the genomic sequencing will yield a large number of results, only a subset of which could be relevant and clinically actionable for some participants.…”

“…Annotations accompanying the laboratory results report could also include classifications by variant pathogenicity and abnormal phenotypes. A thorough annotation pipeline is an important component of the return of results framework [59] and should be carefully planned by the research team. This lab report can then be used by the research team to generate a "Research Analysis Report", based on analysis of the research laboratory results.…”

“…While the specific methodology used by the Scientific Review Committee to reach its decision regarding the classification of results or variants may differ (ex: use of predetermined genetic panels, case-by-case analysis, etc. ), generally the following criteria apply [59][60][61]:…”

“…This has several potential advantages, but also raises additional ethical considerations. There is increasing discussion within the research community on the possible incorporation of genomic information in the electronic health record [59]. While this raises novel questions, both organizationally as well as legally and ethically, it is described as a potential way to start bridging the gap be-tween laboratory results and the implementation of PM [59].…”