Docs tap EMR data for disease research

'The key result is that the method works.'
By Erin McCann
11:11 AM

In the realm of modern healthcare, data is king. And, in many cases, the electronic medical record has proven itself a valuable source to extract that data. Most recently, researchers are using the EMR in conjunction with genetic data to discover new disease associations, which may have huge implications for future medical treatments. 

The first large-scale phenome-wide association, or PheWAS, study conducted by researchers at Vanderbilt University Medical Center and co-authors from the Electronic Medical Records and Genomics Network, was released today in Nature Biotechnology.

Traditionally, genetic studies begin with one disease and examine one or many genotypes. PheWAS, officials say, does the inverse by instead examining several diseases for a particular genetic variant or genotype.

[See also: Could big data beat breast cancer?.]

"This study broadly shows that we can take decades of off-the-shelf electronic medical record data, link them to DNA and quickly validate known associations across hundreds of previous studies," said lead author Josh Denny, MD, Vanderbilt associate professor of biomedical informatics and medicine, in a Nov. 25 press release. "And, at the same time, we can discover many new associations."

The method, Denny added, does not select any particular disease. Rather, it searches simultaneously for more than 1,000 diseases that can bring an individual to the doctor. "By doing this, we were able to show some genes that are associated with several diseases or traits, while others are not," he said. 

Researchers collected genetic data on more than 13,000 individuals of European descent, exhibiting 1,358 diseases collectively. The team then ran PheWAS on 3,144 single-nucleotide polymorphisms, checking each SNP’s association with each of the 1,358 disease phenotypes.

Study authors reported 63 previously unknown SNP-disease associations, the strongest of which related to skin diseases.

[See also: OHSU, Intel partner on genetics.]

"The key result is that the method works," Denny said. "This is a robust test of PheWAS across all domains of disease, showing that you can see all types of phenotypes in the electronic medical record -- cancers, diabetes, heart diseases, brain diseases."

An online PheWAS catalog produced by the study may also assist researchers understand the influence of many common genetic variants on human conditions, officials said. 

"If you think about the way genetic research has been done for the last 50 years or more, a lot of it was done through carefully planned clinical trials or observational cohorts," Denny explained. "This certainly does not supplant those in any way but provides a cost efficient, systematic method to look at many different diseases over time in a way that you really can’t do easily with an observational cohort."

Denny said PheWAS would be unworkable without the eMERGE Network --funded by the National Human Genome Research Institute -- which has now expanded to nine sites with DNA samples from about 51,000 individuals linked to medical records.

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