Needing to blur the lines (a little) for clinical and bioinformatics

For those who are not familiar with the NHGRI sponsored Electronic Medical Records and Genomics (eMERGE) network, the first 4-year phase is drawing to a close.  One of the results from this network, as shown in multiple publications and reports, is the feasibility of using longitudinal data in the EHR for genome-wide association studies (GWAS), and draws out some of the imperfections in those data.  That's probably not unexpected, since we know EHRs have room to improve, and really provides results for EHR developers to learn from history and to plan for the future.

As phase 1 draws to its conclusion, phase 2 will soon begin.  One of the goals as per the RFA of eMERGE II is to evaluate how to incorporate genetic test results into the EHR.  While there are invariably many ELSI and organizational issues related to this, it also begs an informatics question: how to best enter and display this type of information in the EHR?  Traditionally (or perhaps just from my simplified view) we have seen clinical informaticians focus more on the EHR and bioinformaticians focus on genetics.  This is not to say that one side does not have knowledge of the other side, but happened to be more about how the disciplines are separated from the aspect of a system developer.

So the question now to raise is how do system developers fit in with this?  While pure informaticians may have sufficient knowledge of more "traditional" clinical systems and genomics, the writing on the wall is an integration of the two.  Personally, as a programmer with experience more on the side of clinical informatics, I'm quickly realizing that knowledge of genetics will be a new requirement to effectively develop EHRs going forward.  Ideally, other EHR system developers will have come or will start to come to the same conclusion.  To me this is showing a blurring of these disciplines.  Genetics has been a part of the medical discipline for quite some time, but developers may have been blinded by that as the focus has been on system-level things like diagnoses and procedures, or other ancillary items like labs and medications.

As system developers continue their learning, a review of biology and genetics will be key competencies.  For those (like me) who are behind the times and have forgotten about genetics or only learned the basics, it's time to start getting back up to speed so we're ready to offer guidance and are able to implement effective displays of genetic data.

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