Abstract
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.
Keywords
electronic health record - genetics - precision medicine
