The New York Genome Center (NYGC) has received conditional approval from the New York State Department of Health to offer clinical constitutional whole-genome sequence (WGS) testing in its Clinical Laboratory Evaluation Program (CLEP)-certified laboratory. The new service provides physicians with the most complete package of genomic data available for patients with undiagnosed diseases, as well as those patients who are seeking predispositional genetic testing. NYGC is the only laboratory in New York to provide New York State-approved clinical constitutional WGS tests on Illumina’s HiSeq X sequencers. The HiSeq X utilizes the most advanced technology to provide a prompt readout of the entire genome, dramatically enhancing turnaround time and reducing costs for whole-genome sequencing in comparison with previous generation equipment.
A recognized leader in whole-genome sequencing, NYGC will have sequenced more than 20,000 whole genomes on its 16 HiSeq X sequencers by the end of 2016. This represents one of the largest volumes of research-related WGS in the country. NYGC is also seeking approval from the New York State Department of Health to expand its clinical genomics services to include a whole-genome and transcriptome test for cancer. The center received approval for whole-exome sequencing (WES) for undiagnosed diseases in May 2015.
“Whole-genome sequencing will increasingly be utilized as the first-tier molecular test for patients with undiagnosed disease,” said NYS Health Commissioner Dr. Howard Zucker. “The next-generation, advanced sequencing technology used by the New York Genome Center increases the efficiency and scalability of whole-genome sequence testing, which will benefit New York State physicians and their patients.”
NYGC’s clinical constitutional WGS test enables the use of a single diagnostic procedure to obtain much more comprehensive results than the available individual tests such as sequencing panels, WES, chromosomal microarrays (CMA) and mitochondrial tests. The key advantage of the WGS test is the increased diagnostic yield over conventional genetic testing, resulting in a reduction in the time required to reach a genetic diagnosis.
“Physicians can now offer their patients an affordable and efficient way to more accurately explore possible genetic causes of their disease, the first step towards providing appropriate clinical management,” said NYGC’s Director of Molecular Diagnostics and Head of the Clinical Laboratory, Vaidehi Jobanputra, PhD. “This whole genome sequencing service will enable unbiased genetic testing information for patients, and will significantly improve the odds of identifying disease-associated variants that could provide important information pertinent to the patient’s disease.”
NYGC’s constitutional WGS test can also be requested by physicians for presymptomatic, ostensibly healthy individuals who are seeking predispositional genetic testing. For these individuals, the test reports variants on the well-accepted set of actionable genes, the ACMG-56, along with autosomal-recessive carrier status for severe pediatric diseases and variants in pharmacogenomics-associated genes.
The NYGC WGS test has been validated using samples from blood, saliva, and dried blood spots. To learn more about NYGC’s constitutional whole-genome sequencing test, please contact Vaidehi Jobanputra at (646) 977-7092 or email clinical@nygenome.org.
