Family Pedigree Tool Uses FHIR to Access Web-Based Risk Service

Nov. 1, 2016
The family health history tool in use at Intermountain Healthcare creates a message in FHIR and sends it to a web-based risk service, which examines the pedigree and sends back a risk score. The Intermountain family health history tool sends the pedigree and risk data to the Cerner EHR using FHIR.

After attending the HL7 genomics conference in Washington, D.C., last year, I wrote something about the frustration expressed there about the state of family pedigree tools within EHRs — and the limited capability of most EHRs to ingest structured family health information. At that meeting, Howard Levy, M.D., Ph.D., assistant professor of medicine at the Johns Hopkins School of Medicine, said, “It is a tragedy that in 2015 we are talking about how poorly EHR vendors are doing with family history.” 

And Meg Doerr, principal scientist with Seattle-based Sage Bionetworks, said that the way family history is currently collected by providers leads to data that is not actionable. It is unstructured data and therefore unavailable to clinical decision support tools. She said many of the stand-alone family history software tools are ready to pull and push data to EHRs, but none has done it yet. “Nobody is doing it because of the lack of capability on the EHR side,” she said. It is difficult to find a place to put that structured family history in the EHR.”

Fast-forward a year and some progress is being made. At this year’s HL7 genomics meeting, several speakers described how tools such as a family pedigree are starting to be seen as “pluggable” apps and the EHR as a platform into which they fit. David McCallie Jr., M.D., vice president of medical informatics at Cerner Corp., described a future ecosystem in which app developers will use the FHIR standard and application programming interfaces (APIs) to fill in gaps in the EHR platform in complex areas that can’t be done adequately by the EHR vendors themselves. “Pedigree tools should be pluggable apps,” he said.

Many people may remain skeptical that such an ecosystem will develop anytime soon, yet McCallie mentioned that Cerner is working with the Cleveland Clinic to make its Family Care Path pedigree tool a SMART on FHIR app. Cerner already has six Smart on FHIR apps available to customers and six more will come online by the end of the year. Cerner also is working aggressively to make FHIR APIs available to all its customers in the coming year, he said.

The FHIR data model could ease the creation of pedigrees by actually linking family members found in the same health system EHR (although this raises thorny consent issues). It could also help integrate problems/conditions into the pedigree and reconcile conflicting data. And it could link to external family health history repositories or web-based risk services.

That is exactly what Intermountain Healthcare is piloting with its family health history tool.

As Grant Wood, senior IT strategist at Intermountain’s Clinical Genetics Institute, explained, the family health history tool in use at Intermountain creates a message in FHIR, which is sent to a web-based risk service (Hughes Risk Apps), which examines the pedigree and sends back a risk score. Right now the message coming back in HL7 Version 3 and is converted back to FHIR. But Hughes is planning to convert to FHIR, too, Wood said. As the risk score comes back, the Intermountain family health history tool sends the pedigree and risk data to the Cerner EHR using FHIR.

Wood notes that patient-entered family health history software tools should be linked to EHRs. On a side note, he likened the question of where to store a family history to one that is often asked about where to store genomic data generally. “When we think about genomic information, it is so big we don’t want that stored in a clinical data repository in the EHR. It needs to be externally linked. That should be true for family history also. You want to have one family history database and have all family members contribute to the same record.” If EHRs are FHIR-enabled, they can access the repository, he added.

Wood mentioned that the Global Alliance for Genomics and Health has developed a catalog of 23 family history tools. One called VICKY (VIrtual Counselor for Knowing Your Family History) is designed for patients and consumers with low health literacy. Developed by clinicians at Northeastern University and Boston University/Boston Medical Center, it features a virtual genetic counselor that collects family health history orally.

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