NIH and Appistry Partner to Implement Genetic Analysis Pipeline for Undiagnosed Diseases Program

January 22, 2014 at 08:03 am EST

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Pipeline uses family genetics to identify the root causes of rare, unknown diseases

Appistry, Inc., a leading provider of high-performance computing and analytics solutions for next-generation medicine, is partnering with the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) to implement a unique genetic-analysis pipeline for patient diagnosis. Assembled by the NIH and brought into production by Appistry, the pipeline considers family genetics to narrow the search for the genetic changes that underlie many rare and undiagnosed diseases.

Rare diseases are defined in the Orphan Drug Act as those maladies that affect fewer than 200,000 individuals in the US. Of these individuals, just 150-170 qualify each year for the UDP, which often sees patients with diseases occurring in fewer than 50 people in the world.

"For an individual with an unknown disease, we need to identify which genetic change is the cause," said William A. Gahl, M.D., Ph.D., NHGRI clinical director and director of the NIH UDP. "Current methods compare an individual's genome to a generic reference genome, which may differ significantly from the individual's; that creates an unnecessarily large number of possible genetic changes to pursue. Determining which changes are relevant is time-consuming and computationally intensive."

Appistry will help build a production-ready pipeline that uses an NIH UDP method of assembling and comparing genomes within a family to identify changes that may be causing disease. In the method, a customized parental reference is assembled from the biological parents' data and used to construct the child's genome. The resulting trio of genomes is then compared against a standard reference to determine exactly where genetic variations exist. Processing first determines sites where the child's genome differs from the parents'; a second pass determines which changes in the child's genome are truly unique and not just missed during the first pass.

"Our partnership with Appistry is in line with where medicine is headed," Dr. Gahl said. "You don't think of a company whose expertise is in IT and computation as having a direct effect on health. But this pipeline illustrates how scientific know-how and technological expertise must come together to advance patient care."

"We are thrilled to be working with NIH UDP on this project," said Kevin Haar, chief executive officer of Appistry. "The work represents the future of medical care, not just in the implementation of technology to aid diagnosis, but in how doctors view patients. By placing individuals in the context of family genetics, this pipeline represents an important step on the path toward precision genomics medicine."

Register for a live webinar on February 6, 2014, at noon EST to learn more about the solutions employed by the NIH UDP to manage translational data.

About Appistry

A leading provider of high-performance computing and analytics for managing big data, Appistry empowers medical researchers, oncologists, and clinicians to capitalize on genomics medicine. Appistry is also the authorized provider Broad tools for next-generation sequencing analysis, making the tools easier to implement and use in for-profit settings. Learn more by following us on Facebook, Twitter, and LinkedIn.