There are so many different types of healthcare data (e.g., healthcare claims, patient demographic information, diagnostic information etc…). In this blog post, I want to talk about a specific type of healthcare data – genomic data and the potential to integrate this data into EHR (electronic health record) system, to better aid the clinician.
Where does genomic data come from?
Genomic data can come from genetic testing that might be done to identify, for example, a chromosomal abnormality that a patient might have. This testing is often carried out by a medical laboratory whereby the test results are sent to the clinician.
Why should it be integrated into the EHR?
One of the advantages of integrating this genomic data into the EHR (electronic health record) is a centralized system where all of the patient’s information is in one place for analysis. Another benefit would be the ability to implement features such as alerts or warnings for clinicians if the results of a genetic test might indicate the patient would have an adverse reaction to a specific drug.
Although there can be significant benefits to integrating genomic data into EHR systems, this does not come without challenges. Interoperability comes to mind as a concept that you have heard me address in several episodes of the Health Analytic Insights Podcast 
Since genomic data is often transmitted from the lab to the clinician’s office, one of the issues that has been reported is a lack of congruency between what is recorded by the lab and what is uploaded to the EHR. For instance, as this article summarizes, what the lab might record which would be specific and detailed regarding a chromosome abnormality might be coded differently within the EHR, using a generic ICD-10 code (e.g., Q99.9—chromosome abnormality, unspecified).
This loss of specificity is a loss of data which could be used in a clinical decision support tool to provide the clinician with valuable information (e.g., how a patient might interact with a specific type of drug or point to family history). Therefore, one area of improvement is creating standards that have improved congruence with what the lab records and what the EHR codes. There is already work being done through groups such as the Electronic Medical Records and Genomics (eMERGE) Network, which was initially founded in 2007, with the goal of developing and studying the EHR as a tool for genomic research.
The future of integrating genomic data into the EHR promises life-changing results, from personalized treatment plans to the discovery of how to treat rare diseases! However, there is still a ways to go when it comes to improving interoperability between the data collected by the lab and what is coded into the EHR system and of course addressing the privacy and security issues which stem from this. Popular EHR vendors are realizing the benefit of integrating genomic data into their systems. For instance, MEDITECH has launched Expanse Genomics which “offers enhanced connectivity with reference laboratories to allow for communication of genetic data in ways that has not been previously envisioned in the marketplace“. Also, they have collaborated with First Databank which is a drug database which will help to greater improve pharmacogenetic decision support for clinicians.
This has been a brief overview of the benefits and challenges of integrating genomic data in the EHR, comment down below, what do you think will be one of the positive outcomes, as this work moves forward?
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