Facing criticism, electronic health record providers say they are making strides in supporting genomics

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Leading providers of electronic health records insist they are successfully meeting the needs of the emerging field of clinical genomics, despite hurdles including uncertainty over who pays for genomic testing, lack of standardization data and the general slow pace of change in health care.

“We have worked closely with our clients, with genetic testing laboratories and standards organizations…

Bob Robke, vice president of clinical business at Cerner, said the healthcare industry in general is still struggling to understand how to integrate genomics into patient care. Robke noted that pharmacogenomics has not had the benefit he hoped for because vendors often have issues over who will pay for the tests. “When we start to see this trend evolve, you will see us innovate more in [pharmacogenomics],” he said.

According to Robke, incremental improvements have been made to the base Cerner Millennium EHR product in recent years. For example, he said the North Kansas City, Missouri-based company responded to customer requests to include somatic test results in the EHR for record review purposes.

Epic and Cerner were the targets of some sharp beards at the American Medical Informatics Association (AMIA) annual symposium in November regarding their management of genomic data. To some extent, the vendors agree with some of the critics, but say it will take broader industry cooperation to provide better support for precision medicine.

In his opening speech at the AMIA conference in San Diego, Eric Topol, director and founder of the Scripps Research Translational Institute, denounced a “duopoly of computing” – although he did not specifically name Epic and Cerner – which does not correctly deliver all the data clinicians need to practice more precise medicine.

“There is so much data on the homeless,” said Topol, a cardiologist and expert in the integration of genomic and digital technologies. In a subsequent email, he explained that ‘homeless’ data includes genomics, wearable sensor readings, environmental factors, and other things that don’t fit well into traditional EHR platforms. .

Topol said that a future he described in a 2019 Nature Medicine article on “high performance medicine” in which a “digital health trainer” guides patients to better health could not be realized as long as the DSEs would not have all this additional data to artificially feed intelligence engines. At AMIA, he expressed hope that some new entrants, including Graphite Health, Truveta and Tempus, could break the Epic-Cerner duopoly; Topol is a paid Tempus consultant.

In another AMIA session, Nephi Walton, associate medical director of precision genomics at Intermountain Health Care in Salt Lake City, also denounced the technology offered by the two largest providers of EHRs.

“We really need a home for genomic data in the EHR,” said Walton. “It takes a lot of work to get the [test] the results in the right place … so that they can actually be used. “

Intermountain uses Cerner. Pediatrician Walton was previously a clinical genetics specialist at Geisinger Health System in Pennsylvania, an Epic client.

Without naming the vendors during his AMIA presentation, Walton said it can be quite difficult to get genomic data from the molecular lab to the EHR, although he cited the lack of standards more than anything. any supplier does.

A key problem, according to Walton, is that there is no standardization of genetic phenotypes. This makes it difficult to maintain variant classification between patients and reports, resulting in patients with the same variants receiving different care.

At Geisinger and Intermountain, Walton has conducted pilot projects involving clinical decision support based, in part, on patient-specific genomic data. In both cases, he had to build personalized interfaces between the EHR and the laboratory information systems.

“You have to create an interface for every lab you use, and then you have to create a genetic phenotype for every lab result you can get,” Walton said in an interview.

The problem of standardization has also led vendors to take different approaches to the same problem. According to Walton, Epic is focusing more on population health, while Cerner has tried to meet the needs of clinical geneticists. “It would be nice if they could meet in the middle,” he said. In neither case were the needs of primary care physicians adequately met.

For their part, the sellers acknowledged some of their shortcomings, but said they were making progress.

Robke said he “won’t discuss” with Topol or Walton whether the legacy EHR providers are innovative in genetics and genomics.

He suggested that Cerner could look to industry partners for help in the area of ​​clinical genomics, possibly through its Cerner Open Developer Experience (CODE) program. For CODE, the vendor has an application store for add-ons that include genomic applications like 2bPrecise. (Lab and software company AccessDx purchased 2bPrecise from another major EHR vendor, Allscripts Healthcare Solutions, in August.)

Epic, headquartered in Verona, Wisconsin, has created a genomics module, although it has not been universally adopted by its users.

Phil Lindemann, vice president of business intelligence and analytics at Epic, worked on the SIL Epic Beaker for a decade. When Lindemann started out at the company, the Beaker team “spent a lot of time understanding the process to produce genetic results and essentially the wet lab workflow that had to go into it,” he said. .

As genomics progressed, so did the inclusion of Epic, moving from single-variant results in the LIS to multivariate reports in cytogenetics and molecular diagnostics, and then, in 2018, to the module of genomics in the basic ESD. Lindemann said about 90% of Epic customers use versions of the EHR software that are less than a year old. The vendor updates their software approximately quarterly.

Lindemann said Epic has worked with its customers and with leading molecular diagnostic labs, including Tempus and Foundation Medicine, to determine how to bring genomic information to the point of care, following standards, including those set by the Alliance. Global for Genomics and Health (GA4GH). The labs “are leading the way in how to interpret and understand genomic information for clinicians, knowing that there is this knowledge gap that will need to be filled over time,” he added.

Epic also has a dedicated genomic cloud to store sequences and other large genomic data sets. “The idea is that this data can be used for research to make new discoveries and also be re-interrogated and redone as knowledge evolves,” said Procknow. “Clinically actionable” data can be transmitted to the EHR rather than the genomic cloud.

Institutions such as the University of Pennsylvania, Mayo Clinic, and Arkansas Children’s Hospital have published papers on their use of Epic to bring structured genetic test results to clinician workflows for pharmacogenomics and others. forms of precision medicine.

Walton, who chairs AMIA’s genomics and translational bioinformatics working group, said vendors were making headway on the genomics front, but added that the lack of certain standards remains a formidable obstacle.

The issue of standards actually presents a great opening for suppliers to innovate, according to Robke of Cerner. “I think there is an opportunity for us to take it straight out of the fall rather than trying to modernize it as things go on,” he said.

Cerner chose the Health Level Seven International Fast Healthcare Interoperability Resources (FHIR) standard for data transmission. Robke said the move puts Cerner “a bit behind in the industry” because FHIR is not widely used in genomics labs. “Rightly or wrongly, we’re trying to push the industry this way,” he said.

Robke said Cerner will be able to grow quickly if FHIR is successful.

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Procknow said Epic is proactive with standards bodies. Epic is not a corporate member of GA4GH, but Peter DeVault, Epic’s vice president of genomics and interoperability, is personally involved. Epic is also represented in the HL7 Genomics working group.

“When there are places where the standards are insufficient or not communicating the right data, we work with our customers and with the laboratories to add and update the standards” via the working groups of the standards organizations, said Procknow.

For example, customers have come to Epic looking for a location in the EHR to report mosaicism in genetic test results. “We created a field for it and now we bring it back to the [standards body’s] task force, ”Procknow said.

Part of the dismay can stem from the fact that updates to standards take time, and it can also be slow to change organizational cultures and workflows as medicine progresses.

Walton said he had not heard from either supplier since his AMIA presentation in early November.

Cerner is being sold to Oracle for $ 28.3 billion. The publicly traded company, whose founding CEO Neal Patterson passed away in 2017, has seen significant leadership turnover in recent years. David Feinberg, for whom Walton worked at Geisinger, became CEO of Cerner in October. However, Walton said he currently has no genomics-related contact with the company and that a beta test of the new Cerner technology that was believed to have started last summer remains in limbo.

This story first appeared in our sister post, Genomeweb.

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