Genomics pose 'daunting' test for EHRs

Terabytes of data mean unprecedented storage and interoperability issues
By Neil Versel
10:33 AM

"One of the big takeaways for me" was the length of the data cycle, Williams said, explaining a paper written by Andrew G. Ury, MD, chairman of Seattle-based ActX, a startup seeking to make genomic information clinically relevant to physicians. Genomic data has a much longer "shelf life" than other health data such as vitals or test results, Williams said.

It is a cycle instead of an arc with an endpoint, Williams explained, and genomic data should be constantly reused "as we gain more knowledge about the patient."

Genomic profiles need to be available for the life of the patient, travel with the patient, be structured and possibly resequenced as technology improves, Williams said.

Genetic knowledge has been changing over time, according to Tarczy-Hornoch, co-chair of the EHR working group of the Clinical Sequencing Exploratory Research (CSER) Project, an NIH-funded effort to examine practical, ethical and legal requirements for integrating genomic sequencing into clinical care. He is the corresponding author of a paper explaining CSER's survey of various efforts to include genomic reporting in EHRs.

Clement J. McDonald, MD, director of the National Library of Medicine's Lister Hill National Center for Biomedical Communications and former director of the Regenstrief Institute in Indianapolis, was not on the AMIA panel, but he spoke to Healthcare IT News after the session. "Things slip" during sequencing, potentially creating small errors, this longtime informatics expert said.

He said that even one error in 1 million is a lot when dealing with a genome containing 1 billion data points. "Depending on what they hit, they could be important," McDonald said.

"You've got a big problem with interpretation and it keeps evolving as you get more data," McDonald said.

Referring to a Journal of the American Medical Association commentary he co-authored earlier this year, Chute said there is no real coding system for genomic data.

However, McDonald told Healthcare IT News that Health Level Seven International already has a code for reporting how patient-specific data corresponds with the Reference Sequence Database, a collection of curated, publicly available DNA, RNA and protein sequences from the NLM's National Center for Biotechnology Information. McDonald recommended that genomic data include Ref Sequence codes.

Once data is in the EHR and is being used to diagnose or treat, "this is no longer genetics land," Kannry said. "It's routine care." And thus, clinical decision support is necessary. Kannry said CDS requires actionable, discrete data, genetic or otherwise.

Joshua C. Denny, MD, a biomedical informaticist at Vanderbilt, told AMIA attendees that that genomic information does not have to be stored within a core EHR, but it does need to be connected to clinical decision support. Vanderbilt only puts genetic information into the EHR "if there is CDS around it," Denny said.

As a result of eMERGE work, genetic results now are "visible passively" in the EHR at Vanderbilt, Denny said. "It gets people used to looking at it." However, it does not necessarily change prescribing habits, which is why Denny said CDS needs to be connected.

Genomics probably will lead to "versioning" in clinical decision support, Kannry predicted. "I actually think we're going to have to version these things" so physicians know what information led to a particular decision, he said.

He said he believes it will take 20-40 years to get to the point where a doctor can tell patients what they will die from, and when.

[See also: HIT unprepared for 'omics' onslaught ]

[See also: HIT unprepared for 'omics' onslaught ]

Want to get more stories like this one? Get daily news updates from Healthcare IT News.
Your subscription has been saved.
Something went wrong. Please try again.