EHRs hold promise for genetic testing research

Electronic health records hold promise in augmenting current studies of genetic testing, according to a study recently published in the Journal of the American Medical Informatics Association.

The researchers, from Massachusetts General Hospital and Harvard, analyzed the EHR data of 10,715 patients being treated by 942 physicians affiliated with academic medical centers. The study found that genetic testing was ordered by a "diverse" group of physicians, who ordered tests on 1.1 percent of their female patients of child bearing age. The tests most commonly ordered were cystic fibrosis (36.7 percent), prothrombin (13.7 percent) and Tay-Sachs (6.7 percent).

The researchers suggested that the data in the EHRs could be aggregated and used for additional functions, including the identification of patterns.

"EMRs currently serve primarily as a storage warehouse for textual reports that could potentially be transformed into meaningful structured data for next-generation clinical decision support. Further studies are needed to address the design, development, and implementation of EMRs capable of managing the critical genetic health information challenges of the future," the researchers noted.

This is not the first time that it has been suggested that EHRs can improve genetic testing and related care. The data in EHRs can be used to identify patients who should undergo the testing and to populate public registries, such as the new genetic testing registry launched by the National Institutes of Health.

EHRs also may help keep the cost of genetic testing down. A study published in March by UnitedHealth Group determined that spending on genetic testing will greatly increase over the next few years, hitting $25 billion per year by 2021.

For more information:
- here's an abstract of the study
- check out this article about the cost of genetic testing (.pdf)
- read NIH's announcement

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