Two to three percent of children in the United States have some form of intellectual disability, many of which are associated with genetic changes. For these families, finding a diagnosis can be a journey that, if ever realized, may take months or even years.
Last week, the US Food and Drug Administration (FDA) granted the first-ever clearance for a whole-genome genetic test that with a single blood sample can scan a patient’s entire genome searching for the cause of developmental and intellectual disabilities.
Affymetrix, Inc., based in Santa Clara, CA, partnering with Greenwood Genetic Center (GGC) and others, now has regulatory clearance to market CytoScan Dx Assay as a diagnostic test.
“Instead of looking at one gene at a time, a high-resolution, whole-genome test can simultaneously analyze over two million regions in 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 studies. “The clearance from the FDA is an exciting conclusion to years of work by GGC’s lab directors and technologists, and is a huge step forward for families struggling for answers.”
“The enormity of this project required that we choose collaborators who are committed to providing high-quality laboratory testing and advancing patient care through improved diagnostics,” shared Dr. Eric T. Fung, VP, Research and Development, Affymetrix, Inc. “GGC’s exceptional reputation within the genetics community as well as our very high level of trust with their work made Dr. Chaubey and her team ideal partners.”
“Our work with GGC throughout this FDA approval process has solidified the relationship between our organizations and has also led to collaborations on more projects,” explained Kat Kwiatkowski, MPH, Senior Manager of Medical Affairs, Affymetrix, Inc.
“Participating in this clearance process is a wonderful opportunity for GGC to play an important role in guaranteeing the high quality of the testing we offer,” added Barb DuPont, PhD, GGC Cytogenetics laboratory’s Senior Director. “And now the FDA clearance provides an extra layer of external quality control for the testing.”
Chaubey concurred, “We have always known that our testing at GGC is at a high level, but it’s really nice to have the affirmation from outside that they respect how well we are performing.”
The findings of the studies also showed that this technology had improved ability over other commonly used tests, including standard chromosome testing, to detect certain chromosomal abnormalities.
“Our patients will benefit from this cutting-edge technology now made available to them,” shared GGC Clinical Geneticist, Dr. Barbara Gordon. “Not only can this testing provide a quicker answer for these families, but it also opens up more possibilities for better understanding these conditions and allows us to move closer toward effective treatments.”
Chaubey has presented findings from various parts of these studies at national and international genetics meetings including the 2013 European Society of Human Genetics conference in Paris. GGC’s microarray lab currently runs 1,500 clinical samples per year.