GeneDx, Inc., a leader in genomic analysis, a wholly owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company (NASDAQ:OPK), today announced it has completed clinical genetic exome sequencing for more than 300,000 patients, making the company's dataset the largest of its kind in the world. Supported by matching phenotypes, the company's market-leading genomic analysis and interpretation capabilities have created a diagnosis and discovery engine advancing genetic medicine worldwide.

"The transition to widespread use of exome and ultimately whole genome sequencing rather than multi-gene panels promises to radically simplify the use of genomic information in healthcare. The rapid acceleration in demand for our exome testing, including nearly 100,000 exomes completed in the last year alone, shows this transition is well underway," said Katherine Stueland, president and CEO of GeneDx. "Often our patients are infants in the neonatal intensive care unit whose parents are facing a daunting process to figure out what's wrong with their child. Going immediately to sequencing the genomes of baby and parents dramatically curtails that quest, enabling the care team to have the right answer on what's wrong so they can intervene quickly."

With the volume of clinical exome sequencing accelerating more than 40 percent annually, GeneDx has played a pivotal role in supporting rare disease diagnosis for hundreds of thousands of patients while also expanding understanding of gene-disease relationships that improve diagnosis and treatment for patients worldwide. The company's extensive experience with exome sequencing results in a definitive diagnosis in 20% more cases with 27% fewer variants of unknown significance compared to public datasets.¹ The variant interpretation framework that supports the company's exome service also underlies its rapid whole genome sequencing service, which provides a complete genetic picture of a patient in seven days or less.

In addition to best-in-class interpretation and classification, GeneDx's interpretation capabilities and dataset have been an important discovery engine. Nearly a quarter of cases diagnosed today include gene-disease relationships originally identified by GeneDx, and each year company researchers collaborate on dozens of publications of new gene-disease relationships, significantly expanding medical understanding of the genetic underpinnings of developmental delay, intellectual disability and other genetic diseases. 

Exome and whole genome sequencing are genetic tests designed to provide a comprehensive look at an individual's DNA. The broadest test, whole genome sequencing, analyzes the full genetic sequence of an individual, allowing clinicians to assess any variants that may be associated with health concerns. Exome sequencing concentrates on a subset of the genome, analyzing the roughly 20,000 protein-coding genes that are the source of most genetically-linked health issues. Each type of testing provides more complete information compared to the targeted multi-gene panels clinicians typically use to look for genetic underpinnings of health conditions. The American College of Medical Genetics and Genomics recently published guidelines strongly recommending exome or genome sequencing as a first or second-line test in children with intellectual disability, developmental delay or multiple congenital abnormalities.²