GenomeNext’s Genomic Analysis Pipeline Effectively Delivers Clinically Actionable Genetic Data Driving Nationwide Children’s Hospital’s Efforts To Win The CLARITY Undiagnosed Challenge

COLUMBUS, Ohio–(BUSINESS WIRE)–GenomeNext, LLC, a leader in genomic data management and integrated
analysis, announced today that it’s genomic analysis pipeline delivered
the bioinformatics and genomic sequence analysis capability supporting
Nationwide Children’s efforts to win the CLARITY Undiagnosed Challenge.

An estimated 25-30 million Americans suffer from a rare disorder in the
United States alone, according to the National Institutes of Health
(NIH). In many cases, these individuals undergo years of diagnostic
testing and evaluation without an accurate diagnosis. CLARITY
Undiagnosed is the second crowd-sourcing competition hosted by the Manton
Center for Orphan Disease Research at Boston Children’s and the Department
of Biomedical Informatics (DBMI) at Harvard Medical School. The
CLARITY Undiagnosed competition recruited 26 renowned teams from around
the world vying to interpret DNA sequences and solve the medical
“mysteries” of five patients with undiagnosed conditions, setting new
standards for genomic medicine. Full information about the Challenge is
available online at http://www.childrenshospital.org/clarity-undiagnosed
and http://www.childrenshospital.org/CLARITY.

Nationwide Children’s Hospital, utilizing GenomeNext’s genomic analysis
pipeline, outperformed 21 leading organizations from around the world
that ultimately completed the competition, delivering the most accurate
and clinically actionable genetic data. Boston Children’s Hospital
presented “…several families received confirmations of previous genetic
findings and had others ruled out. New potential disease genes, or novel
genetic variants, were identified for several of the families, leading
to plans for new avenues of investigation and further studies to show
whether the variants are really disease-causing.”

Contributing to Nationwide Children’s efforts was the quality and
accuracy of the genomic analysis data generated by GenomeNext’s pipeline
and variant annotation and filtering capability derived from
GenomeNext’s genomic knowledgebase. GenomeNext has effectively analyzed
thousands of human genomes with great precision and accuracy,
incorporating a vast array of functional annotations for human genomic
variants, assembled into a comprehensive, population-scale database. At
the core of GenomeNext’s novel database is a complete reanalysis of the
1000 Genomes Consortium’s Phase III sequencing dataset, successfully
completed in less than one week. This principal dataset consists of
genomic sequence data from 2,504 individuals sampled across 26 different
populations resulting in approximately 100 TB of analyzed genetic data.
The precision of GenomeNext’s proprietary sequence analysis pipeline
resulted in a more comprehensive and accurate dataset, identifying
thousands of previously unidentified variants, which contributed to
Nationwide Children’s efforts to effectively identify and filter
clinically actionable variants. “The combination of leveraging the most
accurate sequence analysis pipeline and access to the most exact and
diverse repository of DNA sequence data is critical to accelerating the
promise of precision medicine,” said James Hirmas, CEO of GenomeNext.

The GenomeNext platform provides differentiating genomic sequence
analysis and performance around speed, scale and capability successfully
addressing technology and computational bottlenecks, but critical to
GenomeNext’s mission is the ability for the Platform to accurately and
reproducibly deliver clinically actionable data. “There has been great
progress over the last several years reducing the time required for
genomic sequence analysis, but in most cases competing pipelines
sacrifice quality, accuracy and reproducibility for speed,” said Hirmas.
“GenomeNext’s commitment is to contribute to improving the care of
patients with complex and undiagnosed disorders and to deliver the
ability to accurately and reproducibly analyze and integrate genomic
data, paramount to accelerating the promise of precision medicine.”

Dr. Peter White, Director of Nationwide Children’s Biomedical Genomics
Core and GenomeNext co-founder stated, “Given the extremely large size
of whole human genome sequence data, you run the risk of finding
something that might not be a real, relevant factor. The patient cases
for the CLARITY Challenge were particularly demanding because these
patients already had been through extensive clinical and genetic tests.
Therefore, one had to look for changes in unusual genes or rare genetic
variants (including structural and non-coding variants) that are
unlikely to be a part of routine clinical genetic testing. This
information, with its uncertainties, had to be distilled into a report
that would be understandable, help guide the clinicians, and provide
information to the families.”

“The real benefactors here are the patients who have endured diagnostic
odysseys to find answers to complex medical conditions previously
undiagnosed,” Hirmas said. “GenomeNext is pleased to have been able to
contribute to Nationwide Children’s efforts in support of such a
valuable concept conceived by Boston Children’s. We strive through
ongoing product evolution and partnerships such as Nationwide Children’s
Hospital to continue to support and deliver better genome-guided
medicine.”

GenomeNext’s genomic analysis platform is offered as a Software as a
Service (SaaS) through the company’s website, http://www.genomenext.com.
Alternative configurations, including private cloud and custom pipelines
are considered upon request.

Genomics Simplified™

About GenomeNext – GenomeNext is a genomic informatics company
dedicated to accelerating the promise and capability of predictive
medicine and scientific discovery. We commercialize genomic analysis
tools and integrated systems for the evaluation of genetic variation and
function. Our advanced informatics and data management solutions are
designed to simplify, expedite and enhance genetic analysis workflows.
Our solutions provide the market with genomic data and analysis at an
unprecedented combination of performance, quality, cost and scale
without requiring the investment in high-performance computing resources
and specialized personnel. Our proprietary platforms address a broad
range of highly interconnected markets, including sequencing,
genotyping, gene expression, and molecular diagnostics. Our customers
include leading genomic research centers, academic institutions,
government laboratories, and clinical research organizations, as well as
pharmaceutical, biotechnology, agrigenomics, and consumer genomics
companies.

© 2015 GenomeNext, LLC. GenomeNext is a trademark of GenomeNext, LLC.
All rights reserved.

About Nationwide Children’s Hospital

Ranked 7th of only 10 children’s hospitals on U.S. News & World Report’s
2014-15 “America’s Best Children’s Hospitals Honor Roll” and among the
Top 10 on Parents magazine’s 2013 “Best Children’s Hospitals” list,
Nationwide Children’s Hospital is one of the nation’s largest
not-for-profit freestanding pediatric healthcare networks providing care
for infants, children and adolescents as well as adult patients with
congenital disease. As home to the Department of Pediatrics of The Ohio
State University College of Medicine, Nationwide Children’s faculty
train the next generation of pediatricians, scientists and pediatric
specialists.

Related article: Nationwide
Children’s Hospital Genomics Team Honored for Innovation in Unraveling
Medical Mysteries

Contacts

GenomeNext, LLC
Wendy Dueri, 401-451-4831
www.genomenext.com