South Carolina Genetic Center First to Offer FDA-Cleared Whole Genome Test
August 25, 2014
Greenwood, SC – The Greenwood Genetic Center (GGC) is the first laboratory in the US to offer Affymetrix’ CytoScan® Dx Assay, an FDA-cleared chromosomal microarray analysis (CMA). In January, CytoScan® Dx Assay became the first and only CMA to gain clearance by the US Food and Drug Administration (FDA). Using a single blood sample, CytoScan Dx Assay can scan a patient’s entire genome for the cause of developmental delays, intellectual disabilities and congenital anomalies.
“Two to three percent of children in the United States have some degree of intellectual disability, and 1 in 33 newborns have a congenital anomaly,” shared Dr. Steve Skinner, GGC’s Director. “Many of these are associated with genetic changes, and for these families, finding a diagnosis with the traditional tests can be a journey that, if ever realized, may take months or even years. This new test accelerates the diagnosis, opens up more possibilities for better understanding of these conditions and allows us to move closer toward effective treatments.”
Dr. DuPont, left, and Dr. Chaubey examine a CMA chip containing a patient sample some degree of intellectual disability, and 1 in 33 newborns have a congenital anomaly,” shared Dr. Steve Skinner, GGC’s Director. “Many of these are associated with genetic changes, and for these families, finding a diagnosis with the traditional tests can be a journey that, if ever realized, may take months or even years. This new test accelerates the diagnosis, opens up more possibilities for better understanding of these conditions and allows us to move closer toward effective treatments.”
Affymetrix, Inc., based in Santa Clara, CA, partnered with GGC and other laboratories to conduct clinical trials to demonstrate the safety and effectiveness of the assay. In addition, GGC provided more than half of the 960 clinical samples used for the clinical validation component of the studies. The findings of the FDA reviewed clinical studies showed that this CMA technology had improved ability to detect certain chromosomal abnormalities over other commonly used tests, including standard chromosome testing.
“CMA technology, instead of looking at one gene at a time, can simultaneously analyze over two million regions across the genome to identify very small, previously undetectable changes in the patient’s DNA,” shared Dr. Alka Chaubey, Director of GGC’s Cytogenetics Laboratory and a principal investigator on the FDA regulatory studies. “We are pleased to be the first to offer this technology to our patients with the added layer of assurance offered by the FDA’s clearance.”
Many medical professional societies including the American Academy of Neurology (AAN) and the American College of Medical Genetics and Genomics (ACMG) recommend that CMA be a first-line genetic test due to its greater sensitivity, higher resolution, genome-wide capability, and greater diagnostic yield.
“This is quite an accomplishment for both Affymetrix and the Greenwood Genetic Center. The Cytogenetics Laboratory has been working with Affymetrix for a long time toward this goal. To be the first to offer CytoScan Dx Assay is a real achievement.” stated Dr. Barbara DuPont, Senior Director of GGC’s Cytogenetics laboratory.
“We are pleased to have launched the only FDA cleared Chromosomal Microarray product to aid in diagnosis of developmental delay and that Greenwood Genetics is the first to make the product available to clinicians”, said Andy Last, COO Affymetrix. “We are excited to see patients benefit from Affymetrix and Greenwood’s collaboration.”
Chaubey has presented findings from various parts of the validation studies at national and international genetics meetings including the European Society of Human Genetics conference and the American College of Medical Genetics and Genomics annual meeting.
CytoScan Dx Assay will be offered in the GGC Cytogenetics Laboratory and per FDA guidelines, results will be interpreted by Drs. Chaubey and DuPont who are board certified in clinical cytogenetics. The lab currently analyzes approximately 1,500 CMA clinical samples per year.