GeneDx

AI and new modalities are transforming drug discovery—but who’s cracking the code? ?? Hear from our CEO Katherine Stueland as she speaks at Endpoints News' Drug Development Day. She’ll share insights on the breakthroughs shaping genomic medicine and early-stage R&D. ?? Free virtual webinar ?? Wednesday, March 5 | 11:00 AM - 11:30 PM ET ?? Register now: https://lnkd.in/gzzsFBcH

Today is Rare Disease Day, a day to recognize the 1 in 10 Americans who have a rare disease, half of them being children. Today, and every day for GeneDx, is about finding solutions to help support the rare disease community. Today, we have genomic technology that can do just that. Today, it is being underutilized across our health system.? Early diagnosis saves lives and money. Yet, too many families face years of uncertainty, with children undergoing an average of 16 ineffective tests and receiving 3 misdiagnoses before finally getting answers. This diagnostic odyssey often drags on for over 5+ years, leading to unnecessary suffering and skyrocketing healthcare costs.? Rare disease carries a $1 trillion economic burden each year – and with healthcare savings and Medicaid top of mind, and high priority for the new administration – delayed diagnoses are a massive and avoidable expense. Today, we have a solution. Exome and genome testing are readily available and must be adopted as a first-line test to help children get the care they need faster while also reducing inefficient healthcare spending. Today, you can help. In less than a minute, you can advocate for these families by sending a message to your state representative. The Epilepsy Foundation has made it easier than ever to send!? https://lnkd.in/eXtD7nvh ? Today, your voice can make a difference!

For #RareDiseaseDay, we’re lighting up our logo to shine a spotlight on the millions impacted by a rare disease. Join us as we raise awareness and push for a future where every rare condition has a name, a diagnosis, and a way forward. No matter where you are right now—in a coffee shop, an office, or about to join a virtual meeting—chances are someone there either has a rare condition or cares for a child with a rare condition. Together, we're bringing answers to these families navigating the unknown. Because while rare diseases may be individually uncommon, they’re collectively everywhere. Exome and genome testing can help families get answers faster. In under a minute, you can advocate for them by sending a message to your state representative. The Epilepsy Foundation has made it easier than ever. Take action → https://lnkd.in/eXtD7nvh

We’re excited to share that our CEO Katherine Stueland has been elected to the American Clinical Laboratory Association (ACLA) Board of Directors for the 2025-2027 term! ?? This recognition is a testament to Katherine’s incredible leadership and her unwavering commitment to advancing the role of clinical labs in healthcare. We're proud to have her represent our industry and drive change at the national level. Read more about the new ACLA board here: https://lnkd.in/g24VPt_3

"Connecticut is showing the nation how to lead—supporting families, advancing science, and growing opportunities for rare disease patients." - Shannon Belmont, JM, MPH ? At Rare Disease Awareness Day in Hartford, Shannon took the stage alongside Senator M. Saud Anwar to highlight the power of policy, science, and community in driving change for rare disease patients. ? This work matters, and we’re proud to be part of it.

Some things simply can't be canceled. Our commitment to ending the diagnostic odyssey is one of them. For us, every day is #RareDiseaseDay—because every single person living with a rare disease deserves answers. We’re here, we’re listening, and we’re undaunted. Join us as we work to make positive change. ??

The publication of the Seqfirst-neo study in?The American Journal of Human Genetics?marks a turning point in neonatal care. With our collaborators Dr. Tara Wegner and Dr. Mike Bamshad from Seattle Children's and University of Washington - School of Medicine, the research shows that using simple, broad exclusion criteria for rapid genome sequencing (rGS) dramatically increases the rate of precise genetic diagnoses (PrGD) and ensures equitable access for all critically ill newborns.? ? By shifting to exclusion-based criteria, we finally have a clear answer for which patients should receive testing in the NICU - a big step forward. The study revealed that 42% of diagnosed infants would have been missed under conventional NICU protocols—a staggering number that underscores the urgent need for change.? ? Utilizing genomic insights isn’t just about a faster diagnosis—it’s about fundamentally changing how we approach care for infants in the NICU. With the correct protocols, we can ensure that more infants receive the care they need before more complications arise. #GenomicRevolution #NICU?#PrecisionMedicine #GeneDx?

?? Peer-reviewed research from the Seqfirst-neo study, conducted in partnership with Seattle Children's, the University of Washington and GeneDx has been published in The American Journal of Human Genetics. The study revealed that at least 60% of infants in level IV NICUs should be receiving rapid genome sequencing (rGS). The Seqfirst-neo study pioneers a broad testing model, where infants were eligible to receive rGS unless their clinical findings were fully explained by trauma, prematurity, infection or a pre-existing genetic diagnosis. This testing protocol dramatically increases access, speeds up diagnoses, and improves equity in neonatal care. ?? Key findings: ?? Infants receiving rGS were 9x more likely to get a genetic diagnosis. ?? 42% of diagnosed infants would have been missed under conventional NICU protocols, 69% of whom were non-white. ?? Nearly 97% of diagnosed infants had changes to their clinical management. Too many critically ill newborns are missing life-changing diagnoses. Seqfirst-neo demonstrates that rGS should be available to more patients in the NICU. Learn more → https://genedx.co/43czXwK

Breaking barriers in healthcare ?? We’re proud to share that GeneDx CEO Katherine Stueland has been recognized as one of CNBC’s Changemakers of 2025. This news is a testament to her leadership in advancing precision medicine and improving diagnostic outcomes for rare disease patients. At GeneDx, we believe that genetics is transforming healthcare. From accelerating diagnoses to enabling more personalized treatment plans, we’re working alongside scientists, geneticists, and clinicians to expand access to genetic testing that change lives. Congratulations, Katherine! Let’s continue pushing the boundaries of what’s possible in genomics. ?? Learn more → https://lnkd.in/eFs4iFyT

At GeneDx, we hear again and again that one of the most important psychological benefits of getting a genetic diagnosis is being able to connect with families going through similar experiences. According to one mother, “The ability to share news, tips, and advice is invaluable, as is the support from those who have a shared the grief, hope, and love that comes with having medically complex children.” Connecting with families going through similar journeys, challenges, and triumphs brings strength, support, and a sense of belonging. Let’s continue to reach out, share our stories, and support each other through every step of the journey. Together, we can #EndTheOdyssey. Learn more: https://lnkd.in/gkg7QfCx