Genome Archiving Communication System

Genome Archiving Communication System

 

Solving the Problem of Managing Big Genomic Data

Researchers at Nationwide Children’s Hospital complete a first-of-its-kind project to evaluate a large-scale genomic data management system on the scale of up to one million genomes.

Problem

The influx of genomics data resulting from the increasing affordability of whole exome/genome sequencing and President Obama’s requires a novel technological solution to data storage, communication with other clinical decision support systems and the Health Information Exchange. Any solutions must also enable the use of the data in secondary research studies.

Solution

Researchers at Nationwide Children’s Hospital may have found the solution: Apache Hadoop, the open-source Big Data ecosystem employed by Facebook and Google to handle extremely high volumes of transactions and computational data, provides a secure, highly scalable and inexpensive method of managing massive genomics datasets.

Using the Hadoop ecosystem, the team designed an open-source Genome Archiving and Communication System (GACS) for clinical genomics, which is able to securely interface with the medical records systems (such as EPIC), much like the systems used for radiology – Picture Archiving and Communication System (PACS). 

When fully developed, GACS will allow clinicians to query the genomic variants a patient may have beyond those reported in the PDF clinical summary from the sequencing lab.

  • The project, which will be presented as a poster at the American Society of Human Genetics (ASHG) Conference on October 18, simulated 750,000 genomic records to test the ability of the system to handle such large-scale data.
  • In the future, the source code will be available for open source use on GitHub. Check back soon for a release date.
  • To read the full press release please click here
  • Citation: Swaminathan R, Huang Y, Yu E, Fitch J, Lintner K, White P, Lin S. A Scalable and Secure Genome Archiving at Communication System for the Clinical Enterprise. Abstract presented at ASHG, 18 Oct 2016.

For more information please contact ResearchSupportCenter@NationwideChildrens.org.