31 January 2023 | Tuesday | News
Image Source : Public Domain
Throughout 2022, GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, contributed a significant amount – 22% – of total candidate gene submissions to GeneMatcher, a platform that facilitates new disease gene discovery and enables connections between patients, clinicians and researchers by allowing individuals to submit and search genes of interest.
GeneDx is dedicated to eradicating the multi-year diagnostic odyssey faced by many families seeking clinical diagnoses for critically ill patients. The company has the world’s largest rare-disease dataset including more than 400,000 clinical exomes, 2.7 million phenotypes and over 1 million patient samples. Its data contributions to GeneMatcher enable research with a large number of global external collaborators to increase knowledge of candidate genes; GeneMatcher efforts have contributed to the diagnoses for more than 13,800 individuals tested by GeneDx, as well as countless others due to publication of findings.
“Our contributions to GeneMatcher are just one way we demonstrate our commitment to ending the diagnostic odyssey for patients,” said Katherine Stueland, president and CEO of GeneDx, “By focusing on the bigger picture and utilizing our immense dataset and ability to interpret genetic findings at scale, we can continue to develop a more complete understanding of complex disease, improve diagnosis rates and help providers build effective treatment plans.”
By The Numbers
GeneDx is a leader in scientific inquiry, striving to find answers for patients and contribute to medical literature. In 2022, an average of 13 patients tested by GeneDx were included in GeneMatcher publications each month, and an average of 18 GeneDx-ordering clinicians were included as authors on GeneMatcher publications each month.
Additionally, in 2022, the company:
These endeavors strengthen the knowledge base for rare disease diagnostics, which is critical for treatment improvements and innovation. They also underscore the company’s dedication to patient needs and commitment to collaboration and clinician input, as many providers are directly involved in GeneDx-related research and publications.
Most Read
Bio Jobs
News
Editor Picks