3billion

It’s been a fantastic experience at CNGH24! We’re incredibly grateful for the enthusiastic turnout at both our booth and Dr. Ryu Seung Woo, Ph.D. ‘s session on “Genetic Counseling in the Genomic Era.” Thank you to everyone who joined us for an insightful discussion on the challenges and evolving practices in rare disease genomics. Your engagement and interest inspire us to continue pushing boundaries in rare disease diagnostics. Looking forward to more meaningful exchanges throughout the event! 🧬💙 #CNGH24 #3billion #Genomics #RareDiseaseDiagnostics #AMGH

🌐Genetic Counseling in the Age of Genomics🌐 We’re honored to be invited to speak at #CNGH24, hosted by Asociación Mexicana de Genética Humana, and to contribute to this gathering of global leaders in genetic counseling and genomics. Join us on November 15th at 17:00 (Salón La Constancia), as Dr. Ryu Seung Woo, Ph.D., our specialist in rare disease genetics, molecular genetics, and sequencing interpretation, shares insights on the essential skills that clinical geneticists need to keep pace with advancements in genomics. This session is an invaluable opportunity to gain a global perspective on the rapidly evolving field of genetics. #CNGH24 #AMGH #Genomics #GeneticCounseling #RareDisease #ClinicalGenetics #3billion

🌟3billion at CNGH24!🌟 We’re excited to participate in #CNGH24, the annual symposium on genetic counseling and genomics by Asociación Mexicana de Genética Humana. This event brings together leading experts to discuss the latest challenges and innovations in clinical genetics and genomics. Our own Dr. Ryu Seung Woo, Ph.D., will be presenting on November 15, sharing insights on global perspectives in rare disease genetics and the evolving skills needed for clinical geneticists today. Stay tuned for updates, and join us as we explore the future of genetics. #CNGH24 #Genomics #GeneticCounseling #3billion #RareDisease #AMGH24

3billion, in collaboration with Mexico’s National Institute of Pediatrics, has published a groundbreaking study featuring the largest cohort of Mexican patients with biochemically suspected IEiM diagnosed through whole-exome sequencing (WES). With a 72.6% concordance rate and therapeutic adjustments in 33.6% of cases, this research underscores WES’s critical role in personalized medical management for rare diseases. Full paper: https://lnkd.in/gh2Z9zXP Congratulations to everyone involved! Marcela Vela Amieva @miguel angel alcantara ortigoza Ariadna González Liliana Hernandez Miriam Erandi Reyna FabianBernardette Estandía Ortega MN Sara Guillén López@lizbeth lopez mejia @letica belmont martinez @rosa itzel carrilo neito @isabel ibarra gonzalez Ryu Seung Woo, Ph.D.Hane LeeCynthia Fernández Lainez #raredisease #3billion #WES

At 3billion, we believe in the power of collaboration to drive meaningful change. We’re proud to support The N=1 Collaborative’s launch of the Donated Resource Center, a remarkable initiative that connects researchers with essential resources, bringing us closer to the goal of accessible, individualized treatments for patients.

🚀 Our November 3billion newsletter is out! This month, we’re diving into essential insights on genetic testing options, sharing the latest findings in rare disease diagnostics, and highlighting our newest global partnerships. 📅 Plus, we’ll be at AMGH2024 in Puebla from November 13-16—come meet us there! Check out the newsletter for all the latest advancements in rare disease diagnosis. #Genetics #RareDiseases #Healthcare #RareDisease #GeneticTesting #WES #rarediseasediagnosis #ResearchAdvancements #3billion #ngs

We’re proud to share that 3billion has achieved the ISO/IEC 27001:2022 certification – an internationally recognized standard for Information Security Management Systems (ISMS). This accomplishment reaffirms our unwavering commitment to protecting sensitive patient genetic data and upholding the highest standards in information security throughout our genetic testing processes and software solutions. https://lnkd.in/gASSQabg #InformationSecurity #GeneticTesting #3billion

This study, led by Dr. Hong, analyzed genetic variants in Korean patients with suspected hypertrophic cardiomyopathy (HCM) using a next-generation sequencing (NGS) panel and the 3billion's EXOME (https://lnkd.in/gAbEztAx). Of the 492 patients tested, 43.5% were found to have disease-causing variants. The majority (90.9%) were diagnosed with HCM linked to sarcomere gene variants, while 5.5% were diagnosed with Fabry disease. Notably, patients with positive sarcomere gene variants had significantly worse outcomes. In addition, the prevalence of Fabry disease in this study (5.5%) was higher than previously reported rates of 0.5–2%, likely due to the focused screening of high-risk patients at specialized HCM and Fabry clinics. Genetic testing for patients with suspected HCM provides a definitive molecular diagnosis, allows for the prediction of clinical outcomes, and opens the door to appropriate treatments. #fabrydisease #HCMP #3billion #enzymereplacementherapy

A recent survey of 32 eligible CLIA-certified, CAP-accredited clinical genetic laboratories in the U.S. revealed some key insights into reanalysis practices for exome and genome sequencing (https://lnkd.in/gSXz_YFk). ✅ More than 90% of these labs provide reanalysis, with 96% offering exome and 92% offering genome reanalysis. However, the majority of reanalyses are conducted only upon a doctor’s request. Only one lab reanalyzes results automatically, and two labs have a hybrid approach—reanalyzing both automatically and upon request. ✅ Regarding the cost of reanalysis, 50% of labs offer the first reanalysis for free, while 28% charge for every reanalysis, and 17% always offer it for free.  ✅ The cost ranges from $250 to $1,000, with prices never going below $250.  ✅ Notably, the frequency of reanalysis requests remains low; more than half of the labs receive requests for reanalysis in less than 11% of their cases. ✅ Accessing information about reanalysis seems challenging: 66% of labs provide details on their websites, 38% mention it during the ordering process, 38% inform customers at the billing stage, and only 13% explain the process during the initial ordering. I believe that 3billion approach to reanalysis stands out. Reanalysis is well-communicated during the ordering process, and the fact that we automatically conduct reanalyses on a daily offers a significant advantage. This proactive approach has the potential to maximize the utility of reanalysis for our customers, ensuring they receive the most up-to-date and accurate information possible. #3billion #reanalysis #exome #genome #raredisease

🧬3billion October Newsletter is Here! This edition brings exciting updates, including welcoming visitors from UDNI, advancements in Whole Exome Sequencing (WES), and a deep dive into a Neurofibromatosis Type 1 (NF1) case. We're sharing valuable insights to help you stay ahead in the field of genetics. Curious to learn more? 👉Read Now #RareDisease #GeneticTesting #NF1 #WES #rarediseasediagnosis #ResearchAdvancements #3billion