Baylor Genetics’ Post

Is WGS more cost-effective than WES for children with suspected genetic disorders? According to the findings from an economic evaluation involving 870 pediatric patients, it appears that utilizing WGS as a primary diagnostic approach is cost-effective within a willingness-to-pay range of US $32,625 to $54,375. #ClinicalSequencing #Pediatricdisease #WGS #WES #Geneticdiagnosis #3billion https://lnkd.in/gyzzr6DZ

We support all who advocate for rare disease patients and families during #RareDiseaseMonth. At RCIGM, we want to end the diagnostic and therapeutic odyssey for children with rare, genetic conditions. Learn how we aim to accomplish this mission through #BeginNGS: https://lnkd.in/gRhRNMwn #WholeGenomeSequencing #genomics #raredisease

Today is a great day to send a (prepopulated but editable) message to your local representatives to call for support for H.R. 3876/ S. 2323, the “Access to Genetic Counselor Servuces Act”. Genetic Counselors are Master’s level educated healthcare professionals who counsel patients on genetic testing options and implications which are offered for a multitude of reasons : hereditary cancer, hereditary cardiac conditions, prenatal genetic screening, hereditary neurological conditions, pediatric genetic disorders and more. Currently we are not recognized as providers by Medicare which has limited the ability of clinics/counselors to bill for services, often leaving health systems unable to support the need for our services. Almost every person knows somebody who has been affected by a condition or disease that warrants genetic counseling. As recognition of this field expands, access to care becomes more and more important. https://lnkd.in/eM5uBd3C

Recently, I had the pleasure of discussing the vision, approach, and progress of the Screen4Care project with its scientific Coordinator, Prof. Alessandra Ferlini, and its Principal Investigator, Dr. Enrico Bertini, at the Ospedale Pediatrico Bambino Gesù in Rome, one of the leading pediatric medical centers in Europe. Diagnosis is the first critical step, enabling one to take action on a disease. Early diagnosis can differentiate between poor health outcomes and manageable symptoms. A significant number of Rare Diseases have a genetic origin and could, therefore, be easily detected through sequencing technologies. However, today, only <1% of RDs are screened at birth. The Screen4Care consortium developed a panel of 245 treatable genetic conditions, representing a >10x increase in the number of conditions routinely screened for on average in EU countries. This panel will be used in a pilot study with ~20.000 newborns. Learn more in the link below! #Screen4Care #NGS #NewbornScreening #Diagnosis #Nextgenerationsequencing #Roche #RareDiseases #GeneTherapy #AdvancedTherapies International Consortium on Newborn Sequencing (ICoNS)

🔬 Male infertility affects 7% of men globally, with 60-70% of all cases undiagnosed – a frustrating challenge for both patients and healthcare providers. The diagnostic yield has remained unchanged over years, despite an ongoing surge in knowledge about genetic causes of male infertility. In the past decade, novel sequencing technologies have finally started to shed light on the damaging effect of variants in hundreds of genes involved in male infertility. Dineke Westra | Manon Oud | Nicole de Leeuw | Dominique Smeets | Liliana Ramos | Godfried van der Heijden | Raoul Timmermans | Maartje van de Vorst | Tom Hofste | Marlies Kempers | Marijn Fijke Stokman | Kathleen DHauwers | Brigitte HW Faas #infertility #genes #research

🧬 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

A fabulous initiative - we have something similar - "Find a Clinic" map. If you are a #geneticcounselor, #primarycare #physician, #gastroentorologist, #patient, or #previvor looking for a list of #HereditaryGICancer Programs, we invite you to review our "Find a Clinic" map here cgaigc.com/find-a-clinic Our map is your key to finding a center with the expertise to diagnose and care for individuals with #HereditaryGICancer syndromes. In addition, this map also includes programs providing #Pancreatic Surveillance for individuals at increased risk for #PancreaticCancer. If you do not see your center listed here - #CGAIGC, Latin America Grupo de Estudios de Tumores Hereditarios, #InSiGHT and European Hereditary Tumour Group members are invited to enter their clinic information here cgaigc.com/find-a-clinic Michelle Springer Bryson Katona Lauren Gima Timothy Yen Charité Ricker Lauren Giannetti Sferrazza MS, LGC Amie Blanco Yvonne Cardona, MS, LCGC Joanne M. Jeter Tara Namey Hannah Campbell

genome sequencing🧬 tests can provide a comprehensive understanding of your genetic predisposition😷 to neurological conditions, enabling you and your healthcare providers👩⚕️ to take informed actions towards better health🏃♂️ and prevention. for test booking contact us 0302-5550389 Info@zglgenomics.com #zgl #zarqagenomicslab #wgs #WholeGenomeSequencing #HealthJourney #GeneticInsights #HealthInsights #NeurologicalHealth #ExomeSequencing #GeneticAnswers #FamilyHealth #PreventCancer #likeforlike #FamilyHealth #followforfollowback #PreventCancer

Rare Disease Day is February 29th and one such example (among many) is PDCD, pyruvate dehydrogenase complex deficiency. 1 in 40,000 children will be born with PDCD, and genetic medicine combined with standards of care, small molecule therapy, and early diagnosis will give them a fighting chance. How are you showing that you #careaboutrare this Rare Disease Day? Visit the link to learn more about PDCD and the Hope for PDCD Foundation and to help spread the word. #thermofisheremp

Our paper was chosen as Cover Story of the current issue of the International Journal of Neonatal Screening! We and other experts on Inherited Metabolic Disease (IMD) utilized a Delphi Survey to formulate some statements concerning the Wilson and Jungner (W&J) criterion ‘Treatability’ in the context of newborn screening (NBS). Ten statements were formulated and applied. The results suggest that a transparent Delphi study with a clear consensus is a suitable method for establishing a scoring system for Treatability. However, this study also showed the complexity of eligibility assessment for NBS, indicating that the evaluation of other interrelated W&J criteria is essential as well. The study is an initial step in the process of selecting disorders for NBS, particularly if genetic screening methods are introduced as first tier and more IMDs are technically eligible for inclusion. With Abigail Veldman, francjan van spronsen, Rebecca Heiner-Fokkema and many other contributors. https://lnkd.in/eQzqPdTE #metaboleziekten, #neonatalscreening