Abstract
When describing the launch of potentially the U.S.'s largest clinical genomics initiative, Olivier Elemento emphasizes that, “this is about how much data we can squeeze out of the genome.”
Olivier Elemento, director, Englander Institute for Precision Medicine at Weill Cornell Medicine
Elemento is director of the Englander Institute for Precision Medicine at Weill Cornell Medicine, which is collaborating with New York Genome Center (NYGC) to provide potentially thousands of patients with their whole genome sequence in their clinical records to help in their clinical care. NYGC has experience providing clinical grade results for oncology patients. Now a much broader range of patients will be invited to have their entire genome sequenced.
Sequencing has become much more common for cancers and diagnosing rare diseases in children. But what Weill Cornell is doing is different, Elemento says. “We are focusing on finding as many things in the patient genome that we can to help them with.
“We have a CLIA lab that does whole-genome sequencing and returns results to patients and their doctors, for both current and future use, and that information is stored in the clinical record.” This contrasts to other institutions that are providing results about specific tumor mutations or exome scans for critically ill but undiagnosed children.
“Children with undiagnosed diseases is the model,” Elemento says. He points out that NYGC was the first sequencing center in the country to garner regulatory approval for clinical whole-genome sequencing tests for genetic diseases and cancer from the New York State Department of Health Clinical Laboratory Evaluation Program.
Board-certified molecular geneticists at NYGC will interpret and share the results with ordering physicians, who will then share them with their patients. The initiative will begin with a focus on oncology, cardiovascular, metabolic, and neurodegenerative diseases.