Pennsylvania-based Geisinger Health is partnering with the Regeneron Genetics Center to perform exome sequencing on as many as 250,000 Geisinger patients over the next five years. That fact increases the urgency of communicating the results with patients and providers. The integrated health system created its own patient-facing genomic test report (PGR) within its Epic EHR ecosystem using a web application interface also created internally.
In a recent article in the open access journal BMC Medical Informatics and Decision Making, a Geisinger team described the process of creating the PGR. In a recent interview with Healthcare Informatics, Marc Williams, M.D., director of the Genomic Medicine Institute at Geisinger, spoke about the issues they are seeking to address and the informatics challenges.
I asked Williams if Geisinger has experienced the challenge of patients and providers not having access to clear communications about results.
He responded that it is well known that current genetic test reports are very difficult for non-genetic clinicians to interpret and that some of them are almost impenetrable for genetic clinicians. They are clearly not designed for use by patients. “We are in a scenario where both patients and providers are being exposed to a report that is probably not useful and at worst confusing, which could lead to inaccurate interpretation and use, so we wanted to have something to improve the ability to interpret the information.”
Another challenge, he added, is that the ability to represent the genetic test reports in any way that would allow clinical decision support is not available currently. “We are essentially getting PDFs of lab reports, so you can’t do much with them,” he said.
One of the challenges the Geisinger team faced was putting the results in the right level of complexity and detail that is easily comprehensible both by patients and by their providers. The lab reports themselves are long and complex. “We thought there needed to be an interpretive report presented in addition to the laboratory reports. It is important to understand that these reports are not meant to replace the actual lab report. These are used to provide information in a more comprehensible format to the patient and provider. We designed the interpretive reports based on input we got from patients and providers. Their format is informed by what patients and providers said they wanted.”
To create the reports, Geisinger used an authoring tool called Compass that was originally developed as a tool to improve communications between patients and providers. It allowed patients with conditions such as congestive heart failure to enter patient-reported information, such as diet or daily weight. “It was looked at as a disease management tool available within the electronic health record through launching an application interface,” Williams explained. It is a standards-based tool that can extract information from the EHR and return information to portions of it. “We thought we could leverage Compass for genetic interpretive reports. This was the most expeditious way to get that report launched in both the patient portal and EHR.”
Williams said the development team took advantage of OpenInfobutton, an open source suite of Web services that enable infobutton capabilities within EHR systems. Geisinger is involved with the Clinical Genome Resource, or ClinGen, which is dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine. “I have been leading some work on the EHR interface between the ClinGen resource and certified EHRs. We have a huge amount of knowledge encompassed within the ClinGen but also linked to other knowledge repositories,” Williams explained. “We sought to move this into the EHR environment and present it to patients and providers. OpenInfoButton is a very useful tool in that regard in that it is supported through Meaningful Use in certified EHRs. We could configure the resources to be accessible to OpenInfoButton calls, so we did a lot of work to make the ClinGen resources available for queries through OpenInfoButton. By enabling that, we don’t have to create all the content for Compass reports. We can pull in either through URL or OpenInfoButton, information that is relevant to certain content areas in the Compass report.”
Because SMART on FHIR Genomics is emerging as a genomic-specific HL7-approved standard, Geisinger is now exploring the use of SMART on FHIR capabilities in the reporting process.
“We think there is a lot of promise to SMART on FHIR,” Williams said. “It may allow us to move away from a relatively clunky interface in the sense that if you want to use the Compass report, the provider has to launch it out of Epic. It is not enabled within the workflow. It requires extra work to do it. If we can use something like SMART on FHIR, we might be able to integrate this information directly within workflow without having to launch an external interface. What we want to do is take advantage of things, whether it is OpenInfoButton, Smart on FHIR, or other technologies coming down the road that are going to be incorporated as standards within the EHR and allow us to incorporate this information within the clinician workflow and present to the patient without a lot of extra work.”
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