Genomics England’s Post

In this LabInsights.com Q&A with Will Greene, Healthcare Engagement Lead at Roche Diagnostics Asia Pacific, Genomes2People director Dr. Robert Green MD, MPH who is a physician-scientist and has spent much of his career at the forefront of the exciting field of translational genomics, talked about his pioneering work in newborn sequencing, including via the BabySeq project and the International Consortium on Newborn Sequencing (ICoNS), as well as his broader efforts to make genomic information actionable and accessible for people everywhere. Watch the full Q/A here: https://lnkd.in/gfErc86Y #babyseq #ICoNS #research #science #technology #translationalresearch #genetics #geneticresearch #genetictesting #genes #dna #genomics #preventivegenomics #genome #genomicresearch #health #healthforall #healtheducation #healthequity #healthaccess #healthcareaccess #healthinformation #precisionhealth #publichealth #populationhealth #newbornhealth #newbornsequencing #primarycare #healthcare #healthcareinnovation #healthcareeducation #healthcareinsights #healthcareawareness #scicomm #sciencecommunication #healthcommunication

Our first panel discussion on newborn genomic screening, chaired by Lifebit's Precision Medicine and Human Genetics Lead Chiara Bacchelli, features insights from the CEO of PlumCare Dr Petros Tsipouras and Principal Clinician for Newborn Genomes Programme of Genomics England Dr David Bick. David highlights the urgent need for early intervention in genetic disorders, framing Genomic England's Generation Study as a vital exploration into integrating genomics with newborn screening. Dr Petros outlines the phased approach of First Steps, noting the shift toward leveraging genomics in newborn screening. He stresses the importance of diverse enrollment and understanding regional healthcare needs. #PRECISIONMEDICINE23

Grab your sun hats and shades, and get ready to Ride the Wave of Pediatric Genomics with us on May 1 and 2. During these two days, you'll have a chance to learn from international leaders in genomics and healthcare, while enjoying San Diego's beautiful beach-side weather. This year's Frontiers conference will focus on three key areas: ⭐ Genomics in pediatric behavioral health ⭐ The role of genomics in neurooncology ⭐ The impacts of newborn genomic sequencing in healthy and ill babies Registration for Frontiers in Pediatric Genomic Medicine opens February 20. https://lnkd.in/dQ_BBAyz #GenomicsFrontiers24 #WholeGenomeSequencing #genomics #raredisease

Thinking how spatial transcriptomics tool can help with cardiac developmental research? Check out this latest publication using Vizgen!

This Medical Genetics Awareness Week, it's important to honor the healthcare professionals who translate genomic discoveries into better patient care. Like the researchers at Shriners Children's who are using Illumina technology to push the boundaries of genomics into new clinical frontiers https://lnkd.in/gF4yFGFS #medicalgeneticsawarenessweek #genomics4all #illuminaproud #genomics #healthcareprofessionals

Check out the new MERSCOPE publication from Boston Children's Hospital in the Circulation Research journal! Researchers led by Dr. William Pu, MD utilized single-cell RNA sequencing and MERSCOPE spatial transcriptomics to characterize endothelial cell (EC) heterogeneity during embryonic development in mice. They identified 19 EC subtypes, including progenitors with specific markers, and elucidated the spatial distribution of these subtypes across different tissues and vascular beds. Their findings suggest that arteriovenous specification of ECs involves common venous-featured capillary precursors, with distinct transcriptional regulatory networks governing the differentiation of arterial and venous EC lineages. Read the publication today: https://hubs.ly/Q02mhdkl0 #MERSCOPE #MERFISH #Vizgen #Publication #HeartMonth #AHA #MouseHeart #CardioVascularResearch #HeartResearch

To wrap up Watershed's Favorite Things, 2023 edition, here are a few of our team's favorite scientific discoveries from this year. We can't wait to see what awaits us in 2024! 🔬🧠🚀 Stefanie Morgan: Calendrelli et al., "Genome-wide analysis of the interplay between chromatin-associated RNA and 3D genome organization in human cells." https://lnkd.in/esQbTKfE Blake Gowen: Liu et al., "Modeling post-implantation stages of human development into early organogenesis with stem-cell-derived peri-gastruloids." https://lnkd.in/etHtyUDU Evelien Schaafsma: Mathys et al., "Single-cell atlas reveals correlates of high cognitive function, dementia, and resilience to Alzheimer’s disease pathology." https://lnkd.in/eRvGqgaQ Silvin Gol: "BICCN: The first complete cell census and atlas of a mammalian brain." https://lnkd.in/g2aiVR5a Rebecca Panitch: "These scientists are working to extend the life span of pet dogs—and their owners." https://lnkd.in/g-dDB4sA

🌟 Exciting Development in Newborn Screening 🌟 Ensuring the health and well-being of our youngest population is paramount. New advancements in newborn screening are revolutionizing the way we detect and manage rare genetic disorders early in life. 🍼 Key Highlights: 📌 Comprehensive Screening: Newborn screening tests now cover a wider array of genetic and metabolic conditions, allowing for early diagnosis and intervention. 📌 Early Intervention: Detecting conditions at birth means treatments can start sooner, significantly improving health outcomes and quality of life for affected infants. 📌 Innovative Technology: Advances in genomic sequencing and biomarker analysis are enhancing the accuracy and scope of newborn screening programs. #NewbornScreening #EarlyIntervention #GeneticTesting #PediatricHealth #HealthcareInnovation #Genomics #LifeChangingResearch

👶Launch of the Generation Study 🇬🇧: A Critical Step in Newborn Genomics 🧬 📍Genomics England, in partnership with the UK’s NHS, has begun enrolling newborns for the Generation Study, an ambitious project aiming to screen 100,000 infants using whole-genome sequencing (WGS). 🎯 Study Objectives: - Screen 100,000 newborns with WGS. - Improve early diagnosis and intervention for genetic conditions. - Complement existing newborn screening programs. 👉Key Aspects: - The study will target 223 conditions with known gene-disease associations, detectable by WGS, and amenable to early intervention. - Positive results will be verified through non-genomic confirmatory testing, managed by NHS pediatric specialists. - Enrollment will span multiple NHS trusts to ensure a diverse cohort. ⚠️Critical Considerations: 💰 Economic Viability: - The cost of implementing WGS in routine newborn screening is a significant hurdle. Traditional screenings rely on cost-effective mass spectrometry. Introducing NGS for all newborns could impose unsustainable financial burdens on already strained public payor and government budgets. - As for the study itself funding seems secured only until April 2025. 🔍 Beneficiary and Platform Diversity: - The primary beneficiary appears to be Illumina which dominates the NGS market. It is imperative to consider including a range of NGS platforms such as Element Biosciences, PacBio and MGI to ensure comprehensive and unbiased results. 🧬 Tertiary Analysis: - The study’s success hinges on effective tertiary analysis to determine the utility of the results. However, the protocol provides limited detail on how variant prioritization will be executed efficiently and effectively. Proven and widely accessible tertiary analysis tools such as those by Fabric Genomics, varvis® and QIAGEN Digital Insights should be evaluated rather than betting on a „home brew“ solution. 📄 Further Information: For a detailed overview of the study protocol and its comprehensive plan, please refer to the official document here: https://lnkd.in/dTJ3XzRT #Genomics #HealthcareInnovation #NewbornScreening #WholeGenomeSequencing #GenomicsEngland #NHS #MedicalResearch #Genetics

GenQA is out and about again, this time stateside at the International Society for Prenatal Diagnosis (ISPD) in Boston, USA from 7th-10th July where Prof Sandi Deans is scheduled to give a number of presentations:   Sunday, 7th July 2024, 08:00 -12:00 EDT - Preconference Courses (www.ispdhome.org) Presentation: ‘What standards should fetal sequencing services adhere to?’ Where: America Ballroom North The Sequencing pre-conference course will cover a breadth of contemporary topics important to understand for fetal exome and genome sequencing. Presentations will cover important points for patients' understanding of sequencing technology and results, complicated results that may be unrelated to the reason for testing in the first place, nuances of bioinformatic pipelines, standards for fetal sequencing services, and emerging technologies for fetal genome sequencing. Case presentations will also be incorporated to illustrate several of these points.   Monday, 8th July 2024, 08:00 – 09:00 EDT - Program Embed (www.ispdhome.org) Presentation: ‘New EQA schemes in reproductive and prenatal genetics’ Where: America Ballroom North Technologies in Reproductive Screening & Diagnosis SIG Meeting   Tuesday, 9th July 2024, 10.15 -11.15 EDT Poster: ‘Global practice to carrier screening - through external quality assessment’ Where: Poster P-202   Although GenQA will not have a stand at this year’s ISPD conference Prof Sandi Deans will, of course, be happy to chat to delegates so please come and find her at the poster session. #ISPD2024 #EQA #Quality #Genomics