Sano Genetics’ Post

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

🌟 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

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

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

Early disease diagnosis has become ever more a priority in healthcare, and many argue that there is no better time than at the very start of life. In July 2024, Genomics England, which has been at the forefront of integrating genomics into a country’s national healthcare system, announced the enrollment of the first baby in the Generation study, its flagship newborn genetic screening program that aims to sequence the genomes of 100,000 babies and return clinically actionable information to families. Similar initiatives, designed to generate evidence on the utility and challenges of implementing routine expanded newborn genetic screening, are ongoing in various other countries, including the Guardian Study, and the BabySeq 2 project in the USA. Genomics-based newborn screeening might revolutionize healthcare but requires new solutions to ensure that newborn screening is alwazs considered as a system not as only as a test. Management and follow up of the newborn as well as the psychological aspects of the result of the test on the family must always bat taken in consideration. Genome-based screening is not only a genetic action but part of a multidisciplinary process driven by expert clinicians.

So excited and proud of my company GeneDx and Paul Kruszka. Key takeaways from the article: **Speed and Accuracy:** Genomic testing can significantly reduce the time to diagnosis, which is crucial for initiating appropriate interventions sooner. **Personalized Medicine:** Understanding the genetic basis of a disease allows for tailored treatment plans, improving patient outcomes. **Cost-Effectiveness:** Early and accurate diagnoses can reduce the need for multiple, often expensive, diagnostic tests and procedures. Embracing genomic testing as a frontline diagnostic tool has the potential to transform healthcare, making it more patient-centric and efficient. This approach aligns with the broader movement towards precision medicine, where treatments and healthcare strategies are increasingly customized to individual genetic profiles. Let’s continue to support and advocate for the integration of genomic testing in clinical practice to enhance patient care and accelerate the path to answers. #GenomicTesting #HealthcareInnovation #PrecisionMedicine #PatientCare #MedicalAdvancements

#G2PInsiderSpotlight: 🧬 Ready or not, genomic screening of fetuses is already here! Drs. Nina Gold and Robert Green published a forward-looking commentary on the genomic screening of fetuses in Genetics in Medicine. In it, they discuss how genomic sequencing is a tremendous asset in prenatal diagnosis and for healthcare equity among patients who might be unaware of this technology. Read our March newsletter and all other exciting Q1 updates here:  https://lnkd.in/gi2pieq5 #newsletter #healthnewsletter #research #healthresearch #researchcommunity #science #scientificresearch #genetics #dna #genes #geneticresearch #genetictesting #geneticcounseling #geneticcounselor #geneticists #medicalgenetics #medicalgeneticists #geneticdisorders #geneticdiseases #familyhistory #hereditary #genome #genomics #genomictechnology #genomicresearch #genomicscreening #newbornscreening #sequencing #newbornsequencing #genomicsequencing #genomesequencing #dnasequencing #pediatrics #biology #biotechnology #biomedical #wholegenomesequencing #fetushealth #newbornhealth #childhealth #publichealth #populationhealth #reproductivehealth #precisionhealth #preventivehealth #primarycare #preventativehealth #personalizedhealth #healthcare #healthcareinnovation #healthequity #healthcareequity #prenatal #prenatalhealth #prenatalhealthcare #personalizedhealthcare #newbornhealthcare #childrenhealthcare #preventivehealthcare #preventativehealthcare #medicine #precisionmedicine #genomicmedicine #personalizedmedicine #preventivemedicine #preventativemedicine #evidencebased #healthoutcomes #futureofhealth #futureofhealthcare #futureofmedicine #healthcommunication #sciencecommunication #scicomm

Webinar: Pathway to Diagnosis: Genetic Testing for Inherited Retinal Diseases Prevent Blindness has declared May as Inherited Retinal Disease Genetic Testing Awareness Month. Inherited Retinal Diseases are caused by a change in one or more genes and cannot be prevented. These mutations change the structure and function of the retina and cause impaired vision, and in some cases, complete vision loss. Additionally, IRDs can affect individuals of all ages, can progress at different rates, and are rare. Genetic testing is available to identify many gene variants that cause IRDs. At 2 p.m. May 29, the National Center for Children’s Vision and Eye Health at Prevent Blindness will be hosting the free webinar, “Pathway to Diagnosis: Genetic Testing for Inherited Retinal Diseases.” This webinar is specifically tailored for families of children with inherited retinal diseases and visual impairment, patient support organizations, school nurses, early childhood program staff including Head Start, Early Intervention and special education professionals, teachers of students with visual impairments, and healthcare providers. Panelists include: Dawn DeCarlo, OD, PhD, (Moderator) CEO of Sight Savers America and previous Director of University of Alabama’s Center for Low Vision Rehabilitation Donna Hunt Hodge, MBA, director of Marketing & Sales Retina Gene Therapies, Johnson & Johnson Natario Couser, MD, board-certified in Ophthalmology and Medical Genetics and Genomics Rachelle Lin, OD, MS, FAAO, assistant professor at Southern California College of Optometry at Marshall B Ketchum University Ben Shaberman, MA, MS, vice president, Science Communications, Foundation Fighting Blindness Patient perspectives to be provided by Joy Thomas and Adriann Keve, graduates of the Prevent Blindness ASPECT Patient Engagement Program. More information and registration at https://hubs.ly/Q02wZDR30 #EyeHealth #InheritedRetinalDiseases #LowVision #GeneticEye

The Newborn Genomes Programme, run by Genomics England in partnership with the NHS, is an ambitious research study aimed at sequencing the genomes of 100,000 newborns to better diagnose and treat rare genetic conditions early in life. This groundbreaking study, known as the Generation Study, seeks to determine if whole genome sequencing at birth can effectively improve health outcomes by speeding up the diagnosis and access to treatment for these conditions. The programme, which will run until March 2025, involves extensive public and professional engagement to ensure ethical and practical considerations are addressed. It operates separately from standard NHS care and aims to create a robust evidence base that could support future decisions about integrating genome sequencing into routine newborn screening. The conditions screened are specifically chosen based on their early onset and potential for improved outcomes through early intervention. To ensure a comprehensive and inclusive approach, Genomics England has actively sought public and expert input to determine the principles for selecting which conditions to screen, focusing on those where early detection can significantly improve quality of life. This initiative also explores the broader implications of storing genomic information, considering both the potential benefits and the ethical challenges associated with lifelong genomic data storage. https://lnkd.in/gkF8vwdt