Rapid Exome and Genome Testing for the Diagnosis of Rare Diseases with Lisa Gurry GeneDx

Lisa Gurry, Chief Business Officer at GeneDx,  is transforming the diagnosis of rare diseases in children by providing comprehensive genetic testing. Using exome and genome sequencing, they deliver rapid, accurate results that enable early intervention and access to therapies. Through partnerships and a network of genetic counselors, GeneDx connects patients with specialists and clinical trials to ensure equal access for children and has established a comprehensive database that supports clinical care and drug development and helps identify previously undiagnosed or misdiagnosed conditions. Lisa explains, "The average diagnostic odyssey, or the time it takes to get a diagnosis, is tragically far too long for most families. It can take five years or more to get that diagnosis. And it's typically because the system tends to wait and see to provide the genetic tests that could give a diagnosis very quickly. At GeneDX, we've focused on exome and genome testing, which enables us to have a very comprehensive view across variants of potential diagnoses. And so that's our recommendation: any family that is experiencing a developmental delay has concerns with epilepsy, autism, or any number of genetic potential conditions. The beautiful part about a genetic test is that it can give you the answer you need to know what action to take." "It's remarkable how much science and technology have evolved. So we did our first exome test in 2011, and since then we've sequenced over one million exomes and genomes. So, a tremendous amount of progress has been made in the number of children that we've diagnosed. That's possible because science and technology have advanced, the cost of the test has dramatically reduced, and our ability to deliver that at scale is something that we've been investing in for the last 25 years."  #GeneDx #RareDisease #Genomics #Pediatrics #PrecisionMedicine #GeneticTesting #Epilepsy #GeneTherapy #RealWorldData #Biopharma #ClinicalTrials #HealthcareInnovation genedx.com Download the transcript here