Using Electronic Medical Records to Connect Genes to Illnesses

In the new approach — called phenome-wide association studies — scientists start with a gene variant and then search among thousands of conditions for a match…

The new study was carried out by scientists from a consortium of medical research institutions. Known as the Electronic Medical Records and Genomics Network — eMERGE for short — it was founded in 2007 and includes institutions like the Mayo Clinic and Vanderbilt University School of Medicine…

The eMERGE team has now taken the database out for a test run. Looking at previously published genome-wide association studies, they identified 77 gene variants with strongly supported links to diseases. The scientists then tried to replicate the results.

In 51 out of 77 cases, Dr. Denny and his colleagues ended up with the same link. With 1,358 different conditions to choose from in the electronic medical records, it was practically impossible for them to do so well simply by chance. (NYT)

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  1. Devon Herrick says:

    For all the benefits that proponents claim EMRs will inject into the practice of medicine, this is one area where I believe there could be some benefit. But we also need to collect data on blood chemistry and other metrics of bodily fluids (i.e. saliva, urine, feces, breath, etc.) If all these variables could be regressed against health conditions and gene expressions, the knowledge of medicine could be greatly advanced. Rather than see a doctor for 10 minutes who (from his/her memory and personal experiences) diagnosis you and recommends a treatment, patients could provide fluid samples every few months and have a mass spectrometer analyze their health status. It’s the stuff of SciFi, but why would this not be possible in future years?

    Doctors (rather than talking or examing patients) might be more involved in analyzing the relatinship of body chemistry against genes and disease databases. If you think about it, the human interface between doctor and patient is a rather primative one.

  2. Gabriel Odom says:

    Whenever new technology is released, people will always first denounce it as a gimmick. However, creative people will always find a way to make new technology work for them.
    Many people in the NCPA don’t support EMRs, simply because the government forced them upon hospitals. That discussion aside, EMRs (when implemented properly) can be a great force for scientific advancement in the arena of public health and genomics. EMRs have only been widespread for less than five years now, let’s see what good they can do in the next ten.