NEW YORK (GenomeWeb) – The New York Genome Center said today that it has received conditional approval from the New York State Department of Health to offer a clinical constitutional whole-genome sequencing test.
The test will be run in NYGC's clinical laboratory, which is certified under New York State's Clinical Laboratory Evaluation Program (CLEP), and will use the center's Illumina's HiSeq X sequencing platform.
"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," Vaidehi Jobanputra, NYGC's director of molecular diagnostics and head of its clinical laboratory, said in a statement.
Doctors can order the test for patients with undiagnosed diseases as well as for ostensibly healthy individuals wishing to undergo disease predisposition testing. For the latter, the test will report secondary findings in the American College of Medical Genetics and Genomics 56-gene list, carrier status for severe pediatric diseases, and variants in pharmacogenomics-relevant genes.
“Whole-genome sequencing will increasingly be utilized as the first-tier molecular test for patients with undiagnosed disease,” said NYS Health Commissioner Howard Zucker in a statement. “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 said it is also seeking New York State approval for whole genome sequencing and transcriptome sequencing tests for cancer. Last year, the center obtained approval for an exome sequencing test for patients with undiagnosed disease.