GenQA (Genomics Quality Assessment)’s Post

The article effectively introduces the concept of expanded newborn screening through genome sequencing, highlighting the potential benefits of early detection of actionable conditions. It clearly explains the significance of the GUARDIAN study, particularly its focus on diverse populations and parental acceptance. The discussion of challenges, such as variant classification and the role of AI, adds depth to the analysis. However, the paragraph could benefit from a stronger conclusion that emphasizes the broader implications of genomic screening for public health and the future of personalized medicine. Overall, it’s informative and well-structured!

GeneDx to Showcase Data from Largest Genomic Newborn Screening Cohort of 14,000 Newborns STAMFORD, Conn.--(BUSINESS WIRE)--GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced it has provided genomic newborn screenings (gNBS) for more than 14,000 infants through its participation in groundbreaking research studies which aim to explore the clinical utility and implementation of utilizing genome sequencing to expand standard newborn screening (NBS). Through these studies, GeneDx has conducted more gNBS than any other lab and via Business Wire Health: Medical Devices News

🧬 This initiative from Genomics England and the NHS is a groundbreaking step forward in newborn screening, offering the potential to significantly improve early diagnosis and treatment for rare genetic conditions. By sequencing the genomes of 100,000 newborns, this project is not only transforming how we approach healthcare in the UK but also setting a global example for innovation in genetic research. Early detection of treatable conditions can be life-changing for families, reinforcing the critical role of clinical research in advancing healthcare outcomes. At Momentum Pharma, we are excited to support the growing momentum in genomic medicine and look forward to continued collaboration with global partners to drive further advancements in this space. 📰 Read the full article here: https://lnkd.in/eiHPqyRK #GenomicMedicine #ClinicalResearch #HealthcareInnovation #MomentumPharma #NewEraCRO #NHS #RareDiseases

Recent advancements in newborn screening are setting the stage for significant breakthroughs in precision medicine and paediatric care. Our latest webinar brought together leading geneticists and healthcare professionals to discuss these developments and their potential to transform healthcare practices. 👶 Thanks to Wendy Chung, Holly Peay, and Kira Dineen, MS, LCGC, CG(ASCP)CM for sharing insights on integrating genome sequencing into newborn screening, enhancing early detection, and improving patient outcomes. 🙏 Explore the insights from this fascinating discussion. 👇 https://lnkd.in/gsuwka9z #clinicaltrials #precisionmedicine #newbornscreening

The agenda of the "World Congress On Controversies In Preconception, Preimplantation and Prenatal Genetic Diagnosis - CoGEN" 2024 will dive into the latest advancements in prenatal genomics medicine!. 🧬 Exploring the transformative power of genomewide NIPT and prenatal exome/genome sequencing.  These cutting-edge technologies offer unprecedented insights into fetal health. 🏥 Few sessions: 1.      The multiple benefits of genome wide NIPT 2.      First trimester screening on CMV infection using data generated for whole genome NIPT 3.      Non-invasive prenatal diagnosis of single gene disorders: where are we now & where are we going? 4.      Cell-based NIPT for monogenic disorders 5.      Follow-up diagnostic testing in cases of abnormal genome-wide NIPT: considerations and pitfalls 6.      The residual risks for a fetal chromosome aberration when NIPS is normal: a retrospective study 7.      Metanalysis cfDNA for recurrent pregnancy loss 8.      Prenatal sequencing: how should we be using this powerful diagnostic tool? 9.      The yield of whole exome sequencing in IUGR 10.  All-in-one rapid fetal sequencing service: the Nijmegen experience 11.  Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis 12.  Prenatal exome sequencing in anomalies of the corpus callosum : lessons from a cohort of 369 fetuses 13.  Exome or genome sequencing in prenatal diagnosis. #prenatalcare #genomicmedicine #nipt #fetalmedicine https://lnkd.in/dvu53FKB

New research published in Nature Medicine suggests that mutations are significantly higher in CP cases with birth asphyxia. The study utilized modern genomic sequencing and found that a lack of oxygen could be secondary to the underlying genetic defect. This finding is consistent with smaller studies conducted globally. Check out the article here: https://lnkd.in/d-nCUxDq. #research #medicine #genomics #birthinjuries

When DBS Meets WES: A Game-Changer for Newborn Screening Despite the success of identifying affected infants for the screened diseases, biochemical Newborn Screening (NBS) program has its limitations: 1️⃣Results in relatively high numbers of false positives 2️⃣Thousands of rare genetic diseases are not detected by current NBS panels NGS technologies have the potential to overcome many NBS drawbacks and provide large amounts of molecular data available throughout the life, broadening the diseases investigated efficiently and at minimal additional cost. 📌But the main challenge is the genomic DNA extraction from Dried blood samples (DBS) suitable for NGS analyses may be inadequate due to the degradation and the limited gDNA yield. 🔍This study shows that the variant observed by performing variant interpretation analysis of 28 exomes on DBS specifically issued from patients with well-established IEM were compared with those previously detected on tWB. They have obtained 100% of concordance among matrices. 💡So, in this context, findings in the study demonstrate that DBS is a promising source material for future gNBS programs relying on high-throughput sequencing technologies. Specifically, data results comparable among the different platforms, and furthermore, between the two matrices tested. This high reproducibility of data shows the possibility of quick diagnosis, specifically for those diseases where early diagnosis, treatment or intervention are essential to improve the condition of the affected patient. To read the full article, click the link below: https://lnkd.in/g6UxTQaN Why do you prefer DBS cards for genetic testing, why is it so? Please share your experience. #genomics #ngs #genetictesting #3billion

Interesting read! Exome sequencing is a phenotype driven analysis. The article highlights what happens when in the prenatal period, the phenotype is not yet realized given the early gestation/limits to physical differences only. https://lnkd.in/ee3Ufq6M

The use of whole genome and RNA sequencing is emerging as a promising technology for prenatal diagnosis. #obstetricsandgynecology #prenataldiagnosis #RNAsequencing #Wholegenomesequencing

Newborn Genome Sequencing