GeneDX: GeneDx launches ultrarapid whole genome sequencing for critically ill infants

Research indicates that whole genome sequencing may result in cost savings of up to $15k per child. Image credit: natrot via Shutterstock. · Medical Device Network · natrot via Shutterstock. In This Article: GeneDX is set to launch ultrarapid whole genome sequencing (WGS) for neonatal and paediatric patients in intensive care units (NICU and PICU). According to the genetic testing company, the introduction of ultrarapid whole genome sequencing will make genomic insights for NICU and PICU patients available within two days. GeneDx's technology processes a patient's DNA to identify genetic variations linked to health conditions. Patient DNA is then compared against extensive genetic databases to detect significant mutations, with advanced bioinformatics and AI used to further interpret the findings. Research indicates that up to 25% of patients in NICUs may have a genetic disorder, yet less than 5% undergo genetic testing. GeneDx's chief medical officer Paul Kruszka commented: "Offering an ultrarapid genome is a testament to GeneDx's commitment to shorten, and hopefully one day eliminate, the diagnostic odyssey for patients and their families. "Countless studies cite the benefits of an earlier diagnosis in children with genetic disease, and while we continue to invest in the ability to accelerate and improve access to testing, it is incumbent upon clinicians, health systems, policymakers and payors, to recognise the benefits of this testing and offer it to more patients." The US-based company's ultrarapid genome will be available to order from March 2025, complementing its existing menu of genomic offerings that include exome, genome and rapid genome. Last year, GeneDx released findings from GUARDIAN, a research study of 4,000 newborns to assess the effectiveness of WGS in newborn screening. Out of 120 newborns with confirmed genetic conditions, 92% had disorders not included in traditional screening panels such as Long QT syndrome, severe combined immunodeficiencies, and Wilson disease - all of which have existing treatments. The company was acquired by Sema4 in 2022 in a deal worth around $623m. At the time, Sema4 said it anticipated that the acquisition of GeneDx from OPKA Health would strengthen its AI-driven genomic and clinical data intelligence platform. "GeneDx launches ultrarapid whole genome sequencing for critically ill infants" was originally created and published by Medical Device Network , a GlobalData owned brand. The information on this site has been included in good faith for general informational purposes only. It is not intended to amount to advice on which you should rely, and we give no representation, warranty or guarantee, whether express or implied as to its accuracy or completeness. You must obtain professional or specialist advice before taking, or refraining from, any action on the basis of the content on our site.