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NIH Clinical Center to Integrate Genetic Pedigrees Into EMR Workflow

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CHICAGO (GenomeWeb) – The National Institutes of Health Clinical Center in Bethesda, Maryland, is unique in that it is 100 percent dedicated to medical research. It also stands nearly alone in that it requires all 600 of its nurses to undergo competency training in genetics and genomics.

Every registered nurse at the largest clinical research hospital in the US must take a one-day course in the basics of genetics and genomics in healthcare, then score at least 80 percent in a post-course assessment exam. The NIH Clinical Center also offers an optional, two-day, intermediate-level course for nurses to learn and demonstrate a higher level of competency.

"With the advent of precision medicine, a feeling amongst the leaders was that our nurses would be at the bedside, taking care of patients, all of whom are on research protocols at the Clinical Center, [and] that we [nurses] would be a place that patients might likely go to ask questions about genetics and genomics," NIH Clinical Center Chief Nurse Officer Gwenyth Wallen said. "That's why we did this."

In the post-course assessment, nurses are rated on metrics including their understanding of the relationship of genetics and genomics to health, prevention, screening, and diagnostics, and the ability to put together a family health history and patient genetic pedigree from this family history information.

Now, the NIH Clinical Center is looking to automate development of these genetic pedigrees and embed the pedigrees into the electronic medical record workflow.

"In the competency, they train you to do the pedigree, but it's very manual, on paper," noted Michelle Lardner, deputy CIO for clinical research informatics at the center. "The good thing is, we've designed it in the [EMR] system to emulate how you would do it on paper, except that we made it a little faster because if you do the intake of the family history by just asking questions and putting it in our wizard, it will automatically generate a drawing, and then you can just update the drawing from there."

Work is underway to incorporate these electronic drawings into the EMR documentation. The hope is to launch a pilot by the summer.

Not every trial at the NIH Clinical Center collects DNA samples, but most trials there focus on rare diseases, which often rely on genomics for diagnosis, NIH spokeswoman Molly Freimuth said. Even when genomics is not part of a particular study, the NIH Clinical Center often asks trial participants to consent to providing samples for potential later use.

"Participants on various protocols can have a box to check yes or no to that so that they are all aware of whether they're going to have exome sequencing as part of the protocol," Wallen explained. "Some protocols are kind of preparing for the future to use these tissues and samples in case that becomes the next phase or step."

In such cases, the pedigree and family history are part of the protocols, Lardner added.

The idea of genomic competency training actually predates by three years the 2016 management house-cleaning at the center that came in the wake of a contamination problem and subsequent concerns about lax oversight.

In 2013, as deputy chief nurse officer for research and practice development, Wallen was in charge of nursing education and practice and quality initiatives for the research hospital. "I brought to the chief nurse, with some colleagues from [NIH's National Human Genome Research Institute], the idea that nurses really need to be competent in basic genetics," she recalled.

Wallen said that the competency training program is the result of collaboration among the departments of informatics and nursing education, as well as with National Cancer Institute senior nursing research specialist Kathleen Calzone and Jean Jenkins, clinical advisor of the genomic healthcare branch of the NHGRI.

Wallen noted that Calzone and Jenkins have worked extensively with nursing leaders at universities and Magnet-recognized hospitals on genetics and genomics competency programs. "We were invited to join that [NIH] working group to be a potential site to start this competency development work," she said.

Instructors for the courses include some of the original content developers, as well as NIH principal investigators from various research protocols, several nurse educators, and a genetic counselor.

The pilot set to start in the next few months will be led by Sharon Flynn — an NIH nurse educator who was a part of the original group that created the competency training course — in conjunction with clinical research nurses in an ambulatory setting, according to Wallen. The NIH Clinical Center will partner with the NCI to work on embedding pedigrees into EMR workflows.

"What we will be doing is having nurses take the pedigree into the EMR, and then we'll have a qualified counselor and evaluator ... make sure and validate that the nurse has done it correctly," Wallen said.

Properly built pedigrees in the EMR would speed up research processes, she said. "The hypothesis is that they can [accurately document pedigrees in the EMR]. Then the counselors and the physicians and the primary investigators from the study could go back, and they would know that it's a validated pedigree, but we need to test that first," Wallen said.

But in the basic competency where they learn how to do the pedigree, it's right now on pen and paper or a white board," Lardner said.

"We are trying to incorporate it into their regular documentation, because they do most everything else in the electronic medical record except for this. If you're going to have to do this on paper, it's kind of hard to bake it into your process," Lardner said.

Eventually, Lardner said, the research hospital wants all genetic pedigrees available directly in the EMR. In March, she and Wallen presented at the 2018 Healthcare Information and Management Systems Society conference in Las Vegas two months ago not only to educate others about the genomic competency training, but to learn from the health IT industry as they all try to break new ground.

"The whole reason that we were at HIMSS was to try to take the next step with our nurses, which is to make them also competent in developing pedigrees with their patients on the electronic health record," Wallen said.

"No one really has the functionality of using the pedigree within the EMR," Lardner said. "One of the developers for another EMR came up to me and said theirs is live, but there were no presentations from them or their customers, just us."

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