Program for Precision Medicine in Health Care Leads Effort to Incorporate Genetic and Genomic Data in Electronic Health Record

UNC physicians and scientists in the Program for Precision Medicine in Health Care are working to improve access to genetic testing results for use in clinical care and develop a comprehensive approach to incorporating genetic and genomic data into the Electronic Health Record.

Program for Precision Medicine in Health Care Leads Effort to Incorporate Genetic and Genomic Data in Electronic Health Record click to enlarge Image courtesy of National Human Genome Research Institute.

Precision medicine seeks to facilitate the use of genetic and genomic tests in the clinic and to support implementation of promising approaches utilizing individual data to optimize health care. UNC recently launched the interdisciplinary Program for Precision Medicine in Health Care (PPMH). The mission of the PPMH is to foster advancements in evidence-based precision medicine approaches to screening, prevention, diagnosis, and health management.

Genetic testing is becoming more common in health care. Applications of genetic testing in precision medicine include pharmacogenomics, diagnostic testing for rare diseases, and advanced analysis of tumors to guide management. However, one of the major challenges in the field is integrating genetic testing results into the electronic health record (EHR).

PPMH is partnering with the UNC Health Care Information Services Division (ISD) to improve genetic test ordering, structure genetic test reports, and improve raw data storage and analysis in Epic, UNC Health Care’s EHR provider. PPMH has reached out to UNC providers and laboratory scientists for ideas on how to improve the storage and retrieval of genetic test results in Epic, and the Epic@UNC team has responded to their suggestions with a new Genetic Labs tab in Epic’s Chart Review. The Genetic Tests tab displays all genetic testing results for a patient in one place. In addition, ISD is collaborating with PPMH to implement Epic’s Genomics Module, which will leverage Epic’s specialized data structure to store and use genomics information. “Epic also has additional tools that can take genomic information from unprocessed to useful, even for clinicians without a genomic background,” said Rachel Foppiano, UNC Health Care System Executive Director for Information Technology.

“Genetic testing results need to be easily accessible in the EHR throughout a patient’s life in order to have the greatest impact on clinical care,” observes Thomas Felton, Laboratory Genetic Counselor with UNC’s McLendon Laboratories. “The new Genetic Labs tab allows us to carve out flexible real estate to best serve clinicians that frequently use genetic testing, as well as others who care for the patient over time.” Felton envisions that this new location for genetic information in the EHR will become even more functional with the addition of the Genomics Module, and “may help unify the current diverse ways genetic testing is utilized in the health care system.”

Much of the genetic testing performed on patients at UNC is completed by external labs. These outside labs have highly varied methods of reporting results, and these results often come in the form of standalone human-readable pdfs which are sometimes difficult for the provider to locate in the EHR and review. One goal of the PPMH is to capture and store this information in discrete fields to aid clinical decision-making and population management.

Jonathan Berg, Professor in the Department of Genetics and Director of the PPMH, notes that “the vision for this project is to create data structures for genetic information in the EHR that enhance usability for clinicians while also building capabilities for decision support and informatics-driven quality care metrics. This effort will ultimately facilitate precision health approaches that use all types of data, including genetics, to improve patient care.”

The implementation project has kicked off, and ISD resources are actively working on the Genomics Module build. PPMH will serve as the decision making and governance body for this project. Together, PPMH and ISD are working towards making significant improvements into the way genetic tests are ordered and their results reported in Epic.