Smith Family Clinic for Genomic Medicine’s Post

In neonatal and pediatric intensive care units (NICU/PICU), Rapid Whole Genome Sequencing (rWGS) can play a crucial role in identifying a wide variety of genetic conditions that may cause congenital anomalies, developmental delays, and/or intellectual disability in infants and children. Our rWGS serves as a crucial tool for healthcare providers, genetic counselors, and patients, offering essential insights and solutions with a 5-day turnaround time, aiding in the quest for answers. Learn more about our rWGS: https://bit.ly/42iERVj Explore our blog to learn about our WGS offerings and discover insights on how it has emerged as a valuable tool in the diagnosis of tandem repeat disorders in NICU/PICU: https://bit.ly/46CIFme #ThinkBG #BGreat #GenomeSequencing

The article discusses the challenges of using #wholegenomesequencing for #newbornscreening in the UK Generation Study, highlighting the difficulty in interpreting genomic variation. #genetictesting #variantinterpretation https://lnkd.in/d5tFmcXc

Exiting to see this article on the great work done on Early Check!

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

🌐 Dive into RhD Phenotypes with experts Sandra Nance & @Glenn Ramsey! 🧬 Explore definitions, frequencies, and genetic mechanisms. 🌍 Learn optimal #rhd #genotyping, variations by #race , #ethnicity , and regions. 🩸 Practical insights for managing #RhD issues. 🎓 No prior knowledge needed – ideal for healthcare pros. 🚀 Register now! #immunohematology_made_easy #RhDPhenotypes #GeneticMechanisms #RHDGenotyping #HealthcareInsights #MedicalEducation #ClinicalGenomics #RaceVariations #EthnicityInHealth #GlobalHealthcare #RhDManagement #HealthcareProfessionals #MedicalWebinar #ClinicalLearning #Obstetrics #TransfusionManagement

NEW PUBLICATIONS IN HEALTH ECONOMICS AND GENOMICS 12/12/23 Three publications this week: - QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia | https://lnkd.in/eDZe6xJ3 - Population screening requires robust evidence-genomics is no exception | https://lnkd.in/eZXtAtsn - The motivation and process for developing a consortium-wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care | https://lnkd.in/e2QBdfQk Link to blog: https://lnkd.in/enRRvY6V

Today, we are beyond thrilled to announce the launch of My Precious Genes, 🌅 a technology enabled genetic counseling services company that aims to make genetic counseling affordable and accessible to patients nationwide!!🎉🎉 Our ethos is simple: we want to ensure that you have all the answers about your health. 🫶 When I had my first child at 23, I had an urgent C-section, but thankfully, a healthy baby. A week later, it all went awfully wrong; he fell asleep and didn’t wake up for an entire day. A frantic ER trip and many tests later, we were told he had a rare genetic disorder, one needing much care. Then, the questions came, the judgment ensued and so much confusion for a young couple. I remember the uncertainty about our future pregnancies, the fearful story our genes might hold, and having no real explanations. We were the lucky ones, two physicians who could figure out our own path and ultimately manage two other pregnancies, but this experience has always stayed with me. Access to Genetic Counseling should be a given, filled with compassion and clarity. As a co-founder, I am proud to be a part of our mission of: Equitable Access, Transparency, Empathy and Expertise. We take the opaque and make it clear, focusing on what truly matters – actionable insights for your health. Visit us at https://lnkd.in/eqbQ2Y9b, learn more, schedule a consultation, and start your journey of understanding your genes. Thank you to our wonderful advisors, Neel Shah, Angela Breton and Aarathi Cholkeri-Singh, M.D., FACOG!! Learn your Genes, Learn YOU! #learnyourgenes #genetics #Oncology, #Cardiology, #reproductivehealth #Raredisease, #geneticcounseling, #personalizedmedicine

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

The Generation Study will sequence the genomes of 100,000 newborn babies to look for a specific set of treatable rare genetic conditions. Read our blog to learn more about the study 🧬 https://ow.ly/nIOA50QHrou

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