How Medical Professionals Can Integrate Genomic Data Into EHRs

The American College of Medical Genetics and Genomics (ACMG) recently released a statement on integrating genomic data in electronic health records (EHRs). This statement comes from a time in which genetic testing and data play a critical role in achieving successful precision medicine. Under this model, medical treatments and practices can be tailored to a specific group of patients. But as this genomic data becomes more complex, the practices of interoperability in healthcare and EHRs must continue to keep up with it. 

ACMG Guidelines on Storing and Accessing Genomic Information

How to store genomic information in EHRs to improve interoperability in healthcare 

scientist in research lab

In order for physicians to successfully provide personalized medicine to their patients, they need to have easy access to their EHRs. This accessibility for both physicians and patients must also offer privacy protection, however. In its newest statement, the ACMG offers a guide on how organizations can achieve this. 

Patient Autonomy and Access

Under its guidelines, the ACMG requires healthcare providers to grant patients full access to their genetic data. This should include any test results, physician notes and interpretations, and secondary findings

In order to keep their patients’ genomic information consistent, healthcare providers must also flag data from outside sources like direct-to-consumer testing agencies or laboratories. If they can’t flag them, they can also place them in a separate location within their patient’s electronic health records. 

Online, secure patient portals can be used to grant access to important genetic data. All of the test results must be presented in a manner that is clear and understandable for the patient. However, it is important to note that a lack of internet access can be a barrier to one’s EHRs when developing access capabilities. 

Genetic Literacy

Genetic literacy is critical for making important decisions on genetic-related issues. In order to improve interoperability in healthcare by integrating genomic testing into EHRs, healthcare institutions must educate the public about genetic testing and its unique nature. This is because genetic illiteracy can act as a barrier to advancing genomic medicine. But with increased genetic literacy as well as a larger genetic provider workforce, the U.S. will likely be able to make appropriate policy changes over time. 


With regard to privacy, patients are protected under the HIPPA Privacy Rule. This rule can defer to state and local laws. Some genetic files contained within these EHRs include sensitive information such as one’s carrier status, genetic predisposition to certain conditions, and biological information that contradicts known family information. As a result, many patients worry about genetic discrimination from health insurers. However, HIPAA, the Genetic Information Nondiscrimination Act (GINA), and the Affordable Care Act (ACA) are designed to offer extra protection for patients. 

Data Transferability

In order to optimize care, genetic test reports should be electronically linked to clinician notes in a patient’s EHR. These reports should be visible to the patient and/or their caretaker. Whenever outside providers request these test reports, they should also be able to see patient notes. People should be able to see whether or not a healthcare provider made a clinical diagnosis based on the test results. 

Benefits of Incorporating Genomic Data in EHRs

Improving interoperability in healthcare by integrating genomic data is critical for the future of medicine

male physician talking to male patient

Genomic medicine offers a number of benefits, such as reducing healthcare disparities, obtaining faster medical diagnoses, and enabling targeted testing. In turn, targeted testing for family members can also lead to lowered costs for them. 

Benefits for Patients

On an individual and personal level, genomic medicine can be used to offer patients a tailored treatment plan designed for their unique needs. For instance, patients dealing with colorectal cancer who also have a particular genetic mutation have better survival rates when treated with a non-steroidal anti-inflammatory medication than those without the mutation. 

Benefits for Physicians

Having access to genetic information can make it easier for different medical providers to coordinate patient care. For instance, physicians can use this genetic information to make informed diagnoses, manage treatment plans, and even detect symptoms among different patients. In some cerebral palsy cases, some diagnoses have been re-evaluated as a result of new genetic testing results. These test results revealed a new diagnosis, which then allowed physicians to create new and more effective treatment plans. 

Benefits on a National Level

On a national level, genetic testing can be used to develop new strategies for specific communities. Results can also be entered into a national or international open-access database containing information about different human conditions. 

Right now, healthcare organizations still have numerous steps to take when it comes to successfully integrating genomics data with EHRs. Iron Bridge understands that this process isn’t always fast or easy, which is why we built solutions designed to simplify interoperability in healthcare. To learn more about our solutions, contact the team today.

Back to blog