EHRs, Interoperability Must Evolve to Integrate Genomic Data

As genomic data becomes more prevalent and complex, EHRs must adapt and evolve to provide better patient care, according to a statement released by the American College of Medical Genetics and Genomics (ACMG).

Genetic and genomic testing has become an important tool to enhance clinical decision-making and ultimately precision medicine. However, health IT, especially the EHR, are not able to integrate and interpret this data, ACMG said.

In order to integrate genomic information into EHRs, the health IT systems must amplify patient autonomy, access, genetic literacy, and privacy and protection. EHRs must also have the ability to successfully transfer data, and assign data sets.

"The electronic health record serves as a powerful interactive tool in improving the healthcare of patients and populations," Terri Grebe, MD, FACMG Chair of the ACMG Social, Ethical, and Legal Issues Committee, said in a statement.

"As an integral component of medical treatment, genomic data in the EHR must therefore be continuously and easily accessible to both patients and providers, while simultaneously receiving appropriate privacy protection, to achieve the goal of personalized medicine. This ACMG document provides guidelines on the storage and access of genomic information, improvements in EHR systems, and ethical issues surrounding the sharing of genomic data."

In the past, there have been differing viewpoints of why EHRs may not be adequate for precision medicine and genomic research, and it mostly circled around the lack of interoperability.

However, ACMG outlined specific points that highlighted placement, data usage, entry, patient and provider access, privacy, portability, and results in disclosure that addresses the potential for genetic data EHR integration.

First, ACMG said patients should always have full access to genetic data in the EHR, including clinician’s interpretation, test results, and secondary findings.

Next, patient data from outside sources, such as laboratories and testing agencies, should be flagged or placed separately in the EHR to keep results consistent.

While the Office of the National Coordinator for Health Information Technology (ONC) final rule calls on medical providers and device developers to promote patient data access using third-party apps and APIs.

Utilizing all aspects of the interoperability rule, along with the Health Level 7 (HL7) genomics model and Fast Healthcare Interoperability Resources (FHIR), may take patient genetic data interoperable between separate healthcare facilities.

Next, targeted testing for family members resulting in lowered costs and quick diagnosis should be available once EHRs are further evolved to retrieve genomic information.

Finally, the group wrote informed consent should be adjusted to give patients direct right of access, provide a delayed release on specific results, and present usage of personal genomic information by outside agencies, such as databases and public health programs.

While ACMG outlined its specific points to implement genomic information into the EHR, the authors said further research is necessary to protect patient privacy. They noted that while it’s important for patients to have direct access to EHRs, face-to-face interaction should remain the first option of communication when talking about patient health information.

“These points to consider should be viewed as guidance for the ordering provider, clinical geneticist, laboratory geneticist and genetic counselor, and for institutions and vendors,” the authors concluded.

“They are intended to assist providers, institutions and vendors to develop policies and procedures that optimize the use of the EHR in the delivery of healthcare to maximize patient benefit, minimize harm, improve population health and decrease healthcare costs.”