GeneDx

Everyone at GeneDx wishes you a happy Thanksgiving! We are so grateful for all the work this community does to diagnose and treat children with genetic conditions. Together, we are creating a future where any genetic disorder is diagnosed quickly?to prevent?disease progression and ensure long and healthy lives for all.

Do your patients live with unexplained #epilepsy? About 50% of cases may have a genetic cause. The American Epilepsy Society recommends exome sequencing for answers. In many cases, the results can help guide your treatment and care.

Why cheer for diagnoses fumbles, incomplete passes and penalties when #exome plays a flawless game? Learn more: https://genedx.co/3Ct7UOr

GeneDx CEO Katherine Stueland is the featured guest on The Heart of Healthcare Podcast. In the episode, released today, she delves into the landmark Supreme Court case that enabled advancements in genome sequencing, shares how GeneDx built one of the world’s largest genomic data sets, and highlights the critical role AI plays in advancing the field of genetics. You can listen here: https://lnkd.in/gU4UmvAA

Are critically ill babies put on an unnecessary diagnostic odyssey because of conventional medical protocols? A new study says yes. The latest research from the SeqFirst-Neo study, presented at the annual American Society of Human Genetics (ASHG) meeting, suggests that access to a genetic diagnosis is inequitable because of complex criteria around who qualifies for rapid genome sequencing. By broadening eligibility criteria, study authors hypothesize that more babies will receive a diagnosis that impacts their care. Learn more here: https://genedx.co/48U9rJl

Every day without a diagnosis is a missed opportunity. In some cases, a #genetic diagnosis has led to up to a 90% reduction in #seizures for people with epilepsy.

Beginning this week, GeneDx’s rapid genome test is even better than ever. GenomeXpress now includes repeat expansion screening for additional genes associated with pediatric onset conditions, including ARX (PA1), DMPK, FMR1, FXN, HOXD13, and PHOX2B. Plus, it has a faster turnaround time and lets you use a simple cheek (buccal) swab for sample collection. Get all the details at https://lnkd.in/gxvfJpAJ

We’re pleased to announce the launch of GeneDx Discover, a first-of-its-kind data visualization tool that provides biopharmaceutical companies access to deidentified and aggregated genetic data to support the drug development process. Powered by GeneDx’s unmatched database, the new solution visualizes genetic and real-world data to enable a deeper understanding of the characteristics of target patient populations of interest. Learn more: https://genedx.co/3UYc9ru

Join Katherine Stueland as she shares more about the transformation of GeneDx with Nasdaq Live from MarketSite. “Our goal is to make sure there is equitable access to testing. As we think about the future, this moment of profitability means we can continue to invest so that everyone has the information they need to be on a healthier path.” ? Watch the full interview here:?https://lnkd.in/gwCB_UmD

For children with #epilepsy, a precise genetic diagnosis can transform treatment. Take a guideline-driven approach. Start with #exome.