The era of clinical genomics is upon us. How will technologies like whole genome sequencing, and the exobytes of data these laboratory processes create, transform the face of clinical care? These are the questions that Mark Blatt, WW Medical Director at Intel, and James Lowey, Vice President of Technology at TGen, attempted to answer yesterday afternoon in their HIMSS15 E-Session, "Using Genomic Data to Make a Difference in Clinical Care."
Dr. Blatt started the session with a video about Shelby, a young girl with a rare genetic disorder. Shelby was wheelchair bound and no one was sure what was wrong with her--until her doctors were able to perform the sequencing to identify her genetic defect. Once found, doctors were able to treat Shelby. And she is now wheelchair-free. Her story is a wonderful example of how whole genome sequencing can inform the diagnosis and treatment of both common and rare diseases.
Blatt discussed how whole genome sequencing (WGS) has moved from the bench to the bedside. And he addressed some of the technological issues involved with using it for clinical decision support. For example, WGS processes create a phenomenal amount of data. "Storing these amounts of data is a problem," he said, "Moving this data is a problem. Genomic data consumes a tremendous amount of resources. It is the epitome of big data."
And those are problems we need to address--now rather than later. Because even today, WGS is being used more and more. And as WGS is expected to one day only cost $100 and take less than an hour to process, it is going to quickly become a viable lab test for everyday patients.
James Lowey took over the presentation to discuss some of these technical issues--and how TGen is helping to move genomics from bench to bedside. He explained advancements in computing infrastructure and real-time analytics of both structured and unstructured data. And he discussed how these tools, as well as practical changes in both research and clinical workflows can make personalized medicine, through the use of WGS, a reality.
This HIMSS15 E-Session, "Using Genomic Data to Make a Difference in Clinical Care," is available on demand on HIMSS15 Online.