Quest Diagnostics Announces Availability of Exclusive Whole Exome Sequencing Service for Diagnosis of Pediatric Neurological Disorders

Quest Diagnostics announced that it is now offering a whole exome sequencing service aimed to enhance the diagnosis of rare neurological disorders in pediatric population.

The leading provider of diagnostic information services today announced the availability of Neurome, a whole exome sequencing service. Leading genomics-based diagnostic laboratory, Personalis, Inc. developed and performs the lab-developed test exclusively for Quest Diagnostics.

Neurome is the first whole sequencing service available through Quest and its neurology diagnostics business, Athena Diagnostics. The exome is the one to two percent of the human genome that codes for proteins and is where most known disease-causing genetic variants occur. As a result, it focuses on the most clinically actionable genomic regions for an individual patients, as compared to the whole genome sequencing.

Neurome facilitates the diagnosis of ill-defined neurological disorders, which have a suspected genetic cause, including certain forms of developmental delay, epilepsy and muscular dystrophy. Neurome specifically interrogates areas of the genome that affect the nervous system, based on Personalis’ proprietary ACE Exome. These include clinically interpretable genes and certain medically significant non-protein coding regions. The Personalis team, comprised of clinical experts, interprets sequence results based on a patient’s symptoms, as described by their healthcare provider in a comprehensive test requisition, and utilizing extensive, curated information on the associations of genes and genetic variants to neurological conditions. The resulting test report provides sequencing findings and their clinical interpretation specific to the patient’s suspected disorder. The test is primarily focused on pediatric populations.

Typically, genetic neurological disorders develop at an early age. However, they are challenging to diagnose with current methods, such as single gene and gene-panel testing and comparative microarrays. Although statistics vary based on disease and population, as many as eight percent of individuals are identified as having a genetic disorder prior to reaching adulthood.

Whole genome sequencing results have shown to affect patient management, including disease prognosis, family planning and medication selection.

“Quest Diagnostics is committed to providing clinically actionable insight into disease. The innovative Personalis solution will allow us to deliver on this commitment at a level of quality few whole-exome sequencing methods could match,” said Joseph J. Higgins, MD, medical director of Neurology at Quest Diagnostics and a board certified child neurologist. “By revealing the genetic factors responsible for a condition, Neurome will empower parents and health care providers to establish and appropriate treatment and management plan. It will help many of the mothers and fathers now groping in the dark for an answer to the cause of their child’s disorder to receive a diagnosis that is reliable and actionable.”

At national conference, Personalis presented data that showed its ACE Exome method identified 47 gene variants of significance in 83 patient specimens, for a detection rate of 57 percent, compared to 25 percent in a study of 504 patients by an alternative whole exome sequencing method. Whole exome and genome sequencing can miss certain DNA nucleotide bases, which are the molecules that comprise the genome, however ACE Exome compared favorably in covering coding DNA bases, at 99 percent on average, in 31 of 37 reported genes compared to 15 of 37 genes by whole genome sequencing and 13 or 14 of 37 by two standard exome platforms.

“The diagnostic yield of Nuerome should exceed current exome tests because of its technical and clinical focus on neurological conditions,” said Dr. Higgins. “It’s an outstanding addition to our menu of next-generation sequencing services.”

The relationship will expand access to Personalis’ method to a significantly greater number of practitioners and patients.

Source: Quest Diagnostics

Last updated: 3/10/15; 10:30am EST


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