PHILADELPHIA— For the work its done to integrate patient genomic data into electronic medical records in a way that’s usable for both researchers and clinicians, Penn Medicine was recognized by the Association of American Medical Colleges (AAMC) with this year’s Group on Information Resources (GIR) Excellence Award. The implementation team, which is made up of representatives from Information Services, clinical workgroups and Penn’s genetic research efforts, was recognized formally at the AAMC’s Virtual Membership Webinar earlier this month.
The Excellence Award is given to individuals and teams that have “contributed to a work of excellence in academic medical information technology domain” that supports the mission of their institution in innovative ways. Created last year, it’s one of just two awards that the GIR dispenses.
“As a national leader in healthcare technology, this award exemplifies Penn Medicine Information Services’ unwavering support for technical advancements achieved in genomic research -- bridging medical innovations and enhanced clinical patient care directly into the electronic health record,” said Michael Restuccia, Penn Medicine’s chief information officer. “Projects like these further add to the intrinsic value of receiving care at an academic medical center, as this type of work supports advances being made here in precision medicine based on an individual’s genetic make-up.”
Genomic data is relatively new to medicine and not widely available to clinicians because test results are not standardized and don’t slot into existing electronic medical records well. When this data does fit into the health record, it allows doctors to determine which therapies work best with a patient’s own genetic make-up. The Penn Medicine team’s efforts are important because they make PennChart, the health system’s electronic medical record, able to easily receive and store a patient’s genomic test results in a standardized way. That makes it easier to use both for clinicians treating single patients and for researchers doing larger projects pulling in large amounts of data.
In addition to standardizing and storing the data itself, the PennChart Genomics Project team also worked to create easy options to order genetic testing directly through the medical record. So not only does existing data become easier to access, more of it can be acquired if a doctor feels it’s necessary.
“It’s important for clinicians to be able to easily access, share, and utilize patients’ genomic data to treat many different conditions,” said Katherine Nathanson, MD, deputy director of the Abramson Cancer Center and the Pearl Basser Professor for BRCA-Related Research in the Perelman School of Medicine at the University of Pennsylvania. “Prior to this project, the data was so cumbersome that it made it extremely difficult to take into account for patient treatment. Now, it’s as accessible and actionable as something so routine as a patient’s blood pressure readings or lab results.”
The PennChart Genomics Project has taken on multiple efforts, including the development of specific areas in the electronic medical record for not just patents’ genetic testing, but genetic testing records from family members. It has also organized the data into a discrete form that can be released to patients as well as drive their clinicians’ decisions.
A pipeline established with a specific lab went live in January, adding 62 different types of genetic testing that can be ordered directly through PennChart, including some that require just one click. In total, Penn Medicine clinicians have ordered almost 200 tests directly through the electronic medical records, with roughly half returning results already.
What’s important is that the data is arranged by “use case.” This means that instead of focusing on one gene and its specific interaction with a single medication, the data is organized by larger concerns, such as a gene’s overall association with disease risk or effect on drugs.
“It came down to what was the most beneficial way to present this to balance impact on individual patient treatment and research projects,” said Jessica Chen, an application manager with Clinical Research Information Services, who helped lead the project. “So we started small with one lab and a couple of use cases, but this summer we’re rolling out 10 more use cases.”
The original use cases focuses on a gene that, when working well, suppresses tumor growth, while the other gene is tied to several conditions, including coloboma, an eye abnormality often characterized by a difference in the appearance of the retina or iris.
Moving into the summer, new additions to PennChart’s genomics section will include the ability to test for and store data relating to a specific type of heart muscle disease, dilated cardiomyopathy, and breast/ovarian cancer risk, among other things.
“We’re also working on making genetic reports work better on the interface,” Chen explained. “Right now, a PDF is sent across and users can manually pull out the important parts. We’re working on making it so those pieces of information are pulled automatically. We’re really trying to find ways that make these things work better for everyone.”
Penn Medicine is one of the world’s leading academic medical centers, dedicated to the related missions of medical education, biomedical research, excellence in patient care, and community service. The organization consists of the University of Pennsylvania Health System and Penn’s Raymond and Ruth Perelman School of Medicine, founded in 1765 as the nation’s first medical school.
The Perelman School of Medicine is consistently among the nation's top recipients of funding from the National Institutes of Health, with $550 million awarded in the 2022 fiscal year. Home to a proud history of “firsts” in medicine, Penn Medicine teams have pioneered discoveries and innovations that have shaped modern medicine, including recent breakthroughs such as CAR T cell therapy for cancer and the mRNA technology used in COVID-19 vaccines.
The University of Pennsylvania Health System’s patient care facilities stretch from the Susquehanna River in Pennsylvania to the New Jersey shore. These include the Hospital of the University of Pennsylvania, Penn Presbyterian Medical Center, Chester County Hospital, Lancaster General Health, Penn Medicine Princeton Health, and Pennsylvania Hospital—the nation’s first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.
Penn Medicine is an $11.1 billion enterprise powered by more than 49,000 talented faculty and staff.