Database Will Integrate Data from Clinical Testing Labs & Literature

November 7, 2012

Technology

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Image: Nature

This week, the US National Institutes of Health (NIH) launched a new database known as ClinVar, which will make physicians’ jobs much easier.

The NIH is located in Bethesda, Maryland, and ClinVar integrates dozens of existing databases. It also provides a central place for clinical testing laboratories to deposit their data, since most of this is usually kept locally within the labs themselves. This aggregation of information will accelerate the work of clinicians.

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Such information could help clinical labs improve quality, and prompt research on new variants. ClinVar was built with computational analyses in mind, using standard nomenclature to describe diseases. It allows researchers to incorporate data into their own software, and supports the search for long lists of variants.

ClinVar already contains data on 30,000 variants, and is expected to grow quickly because of a shift in the sequencing technologies. Researchers typically used to screen DNA only for the presence or absence of known mutations. However, now it is becoming more common to sequence a relevant gene in its entirety, revealing never before seen mutations that could be harmful. ClinVar has the capacity to hold detailed information about variants and disease links, although it will not hold the full-genome data that could potentially identify a patient.

ClinVar’s success relies on the quantity and quality of the data and a concern is that ClinVar could undermine well-regarded specialist labs that evaluate for variants of a particular disease. The data can be obtained for free in ClinVar, so there is no revenue stream setup to pay an expert to review the data, states David Dimmock, leading a whole genome-sequencing project at the Medical College of Wisconsin in Milwaukee.

[via Nature]

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