GeneDx

Initial GUARDIAN study results are in! 🧬 The research, published today in JAMA, shows the power of genome sequencing in newborn screening, enabling early diagnosis and treatment for more than 250 genetic conditions. Traditional screening methods don't include all of these conditions, but the GUARDIAN study is proving that advanced genomics can bridge that gap. Some key findings: → Of the 4,000 newborns screened using GeneDx genome sequencing, 3.7% had positive screenings. The majority of those positive screens would not have been picked up by traditional newborn screening today. → Early diagnosis for conditions like long QT syndrome and Wilson disease which are not included in today’s standard newborn screening, resulted in life-saving treatments. Led by Dr. Wendy Chung and using GeneDx genome testing, this study brings us one step closer to ensuring that all children have access to equitable healthcare and the best chance at a healthy life from birth. Learn more about the GUARDIAN study and how it’s reshaping #NewbornScreening → https://genedx.co/3YlJa1S

Unexplained #epilepsy seemingly sounds self-evident, but it encapsulates so much more. Swipe through for 4 key things to know about unexplained epilepsy, and how #exome testing can bring you or someone you love closer to diagnosis.

Our lab understood the assignment. Happy Halloween from our lab to you! 🎃  

Check out our November conference schedule and chat with our team about the future of genetics and neonatal care. 👉 November 5-9, 2024: American Society of Human Genetics (ASHG) 👉 November 11-14, 2024: Child Neurology Society Meeting (CNS)

Today on CNBC’s Closing Bell, GeneDx CEO Katherine Stueland shared her thoughts on the the market's response to GeneDx reaching profitability in Q3, saying: “I think what investors are realizing is that you can drive really good patient care and drive really good business and be able to achieve profitability all at the same time. For many years, there has been tension around 'Can you put patient care at the same level as profitability?' We are proving day in and day out that you can.” Check out the full clip to hear more about our business, the company's recent transformation, and most importantly the impact we have on patients each day.👇

At CHNC, discover our rapid genome enhancements with GeneDx at our booth. Our Enterprise team is available to address any inquiries. #chnc

Attending the Children's Hospital Neonatal Consortium (CHNC)? Be sure to visit the GeneDx table to learn how genome and exome testing is uncovering answers for neonatal and pediatric patients with underlying genetic conditions. Stop by and chat with our team—we're here to support your neonatal care efforts by finding answers, sooner. #CHNC2024 #GeneDx #NeonatalCare #GeneticTesting

Join us on Tuesday, October 29 at 8:30 am ET | 5:30 am PT to hear GeneDx results and key operating highlights for Q3. 🔗 Register and listen live: https://genedx.co/4hhrrRR If you're unable to attend, a recorded webcast will be available on our Investor Relations page after the event. We're looking forward to seeing you there. #Q3Earnings #FinancialResults #EarningsCall #WGS

Don't forget to register for our upcoming webinar on how exome sequencing can guide clinical decisions for patients with unexplained epilepsy. 📅 October 30, 2024 🕙 10 am Pacific | 1 pm Eastern The webinar, presented by Dr. Isabella Herman (Boys Town National Research Hospital), will include both case studies and detailed guidelines. We look forward to seeing you there! https://genedx.co/3YkUson

I will never forget the first time Paul Kruszka spoke with me about the GUARDIAN study. I had only just joined GeneDx and I was in awe of the impact that this study was promising and humbled at the idea that GeneDx could be a contributing force in bringing this vision to life. It’s been less than two years since our easy decision to collaborate with Wendy Chung and today findings from the GUARDIAN study have now been published in JAMA. At GeneDx we believe in a future where parents are equipped with vital health information about their child from day one – including how their genetics may impact their health. The 5–7-year diagnostic odyssey that parents are facing today to get answers for their children needs to end. The GUARDIAN study showcases the transformative nature of early disease detection for children, their families and health systems. GeneDx has sequenced more than 13,000 newborns as part of our work with GUARDIAN, and today we were thrilled to see findings from the study be recognized and published in JAMA. The publication reveals that GUARDIAN participants had nearly 4% positivity rate with gNBS, opening the opportunity for proactive and often lifesaving care for these children from day one. With standard newborn screening practices, 92% of these newborns would have been sent home deemed healthy. GeneDx is a pioneering force in taking scientific discovery into clinical practice. I believe in a world where gNBS will become the standard of care and I am honored for the role that GeneDx will play in delivering this testing to as many children as possible. https://lnkd.in/en6AMGtk #genedx #gNBS #JAMA #GUARDIAN #newbornscreening #genome