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Why is Genomic Data EHR Integration Important?

Genomic data testing is becoming more prevalent in medicine, making it even more important to enable it for EHR integration?

Progress in genomic testing technology has not only interjected clinical genomic data into the medical sector, but genomic testing has also become a vital tool to help enhance clinical decision making and, ultimately, precision medicine. Thus, EHR integration is vital to expand genomic data utilization.

But as genomic data becomes increasingly complex, the EHR must evolve to integrate and interpret this data, primarily through improved interoperability. 

Health IT professionals may consider access, genetic literacy, patient autonomy, privacy and protection, and data transferability. Experts must also identify relevant genomic data sets to facilitate and integrate genomic information into patient care.

Why EHR Integration is Important

Integrating genomic data into EHRs can boost clinical diagnosis, precision medicine, and the treatment of genetic disorders. It can also help improve clinical practices, conduct genetic research, educate clinicians on genetics, and save both time and costs.

However, research revealed one of the most significant potential benefits of genomic data integration is linking its results to clinical decision support (CDS) systems.

“Not only should providers be able to retrieve external educational content to learn more about a patient’s genetic findings, but they should also receive automated recommendations at the point of care to facilitate clinical decision-making,” the study authors wrote.

Health IT developers can create interoperable systems to exchange and display genomic data, and alert clinicians during care. 

“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 American College of Medical Genetics and Genomics (ACMG) Social, Ethical, and Legal Issues Committee said in a statement announcing ACMG’s resource in EHR integration with genomic data.

“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.”

EHR Integration Issues and How to Fix Them

The Office of the National Coordinator for Health Information Technology (ONC) final rule calls on medical providers and health IT 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), could help bridge the gap between patient genomic data and interoperability, ACMG said in its resource.

In the past, there have been an array of viewpoints regarding why EHRs may not be adequate for precision medicine and genomic research, such as the size and complexity of genetic test results. But experts mostly circled the lack of interoperability.

ACMG outlined specific points and guidelines that addressed the potential for genetic data EHR integration:

  • Patients should always have full access to genetic data in the EHR, including clinician’s interpretation, test results, and secondary findings
  • Patient data from outside sources, such as laboratories and testing agencies, should be flagged or placed separately in the EHR to keep results consistent
  • Targeted testing for family members resulting in lowered costs and quick diagnosis should be available once EHRs evolve to retrieve genomic information
  • 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

Still, the authors said further research is necessary to protect patient privacy. Although patients need to have direct access to EHRs, face-to-face interaction should remain the first communication option 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,” wrote the study authors.

“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.”

Are Clinicians Currently Utilizing Available Genomic Data?

As noted, accessibility of genomic data can improve patient care, but collection and storage are both challenging tasks. Thus, EHR vendors have developed EHR-integrated genomic tools and health IT developers are creating genetic databases to improve data accessibility.

Whether it is an EHR solution or database, both can help diagnose and aid the clinical decision-making process. 

However, according to a 2021 JAMIA Open study, clinicians currently view only 1 percent of patient genomic data in the EHR.

After researchers implemented a platform that gathers and displays genetic testing data in the EHR, researchers retrieved 30 clinician access logs. Of the 30 clinicians, only 13 opened at least one test result document. This number represented 1 percent of the 1,071 genetic study results that the researchers uploaded onto the platform.

The key to garnering the clinician buy-in needed in that example is offering up information that is useful to the clinician at the point of care, other experts have said.

“A key barrier to translating the power of genomic sequencing to clinically-oriented research analyses involves the time and resources required for clinically-relevant analysis,” wrote the National Human Genome Research Institute.

In an effort to address that common barrier, the institute developed the Clinical Genomic Database to focus on significant genetic data with readily available interventions.

“The contents are not intended to serve as nor substitute for comprehensive clinical guidelines or to provide clinical direction, but are rather intended to briefly describe the types of interventions that might be considered so that this information can be used for further research purposes,” the institute explained.

The JAMIA study authors likewise noted that clinical relevance will be important to getting clinicians to use genomic data.

“These data contribute important empirical knowledge on the application of objective EHR log data to evaluate clinician engagement with genomic data and with unsolicited findings displayed in the EHR, within a clinical context,” the JAMIA study authors concluded.

“It also provides insights into the informational and workflow needs of users and adds some valuable insights into types of activities that clinicians were engaged in when they accessed the unsolicited genetic test results. This study highlights opportunities to use EHR logs in ongoing EHR integration efforts in both research and healthcare settings.”

Health systems and health IT developers will need to work together to overcome significant EHR integration obstacles, and it begins with evolving the EHR.  

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