Genetic Testing in Pediatrics: The New First-Line Standard скачать в хорошем качестве

Genetic Testing in Pediatrics: The New First-Line Standard

Genetic Testing in Pediatrics: The New First-Line Standard Stop searching for answers in the diagnostic odyssey. Discover why advanced genomic sequencing is now the recommended first-line tool for pediatricians and how it is revolutionizing patient outcomes. In this comprehensive medical webinar hosted by APPNA Pediatrics, we dive deep into the rapidly evolving landscape of Genetic Testing in Pediatrics. As genomic medicine transitions from a last-resort specialized tool to a primary diagnostic approach, pediatricians and clinicians must stay informed on the latest technologies and clinical standards. This session explores the critical shift toward Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) as the new gold standard for diagnosing rare and complex pediatric conditions. We analyze the most recent American Academy of Pediatrics (AAP) guidance, which now recommends exome and genome sequencing early in the diagnostic process to improve patient care and reduce unnecessary invasive testing. The lecture covers the technical differences between various testing modalities, the importance of diagnostic yield, and how precision medicine is reshaping treatment protocols in pediatric subspecialties such as nephrology, neurology, and cardiology. Furthermore, the session addresses the practicalities of implementing these tests in a clinical setting, including pre-test and post-test genetic counseling, ethical considerations, and strategies for navigating family communication. Whether you are a resident, a seasoned pediatrician, or a medical student, this masterclass provides the essential framework for integrating advanced genomics into your daily practice. Join our expert faculty as they decode the future of pediatric healthcare through the lens of genetic science. Timestamped Chapters: 00:00 - Welcome & Introduction to Pediatric Genomics 04:15 - Why WES/WGS is Replacing Traditional Testing 11:30 - Decoding AAP Guidelines: The Latest Updates 19:45 - Strategies to Increase Diagnostic Yield in Rare Diseases 27:10 - Clinical Case Studies: From Mystery to Diagnosis 34:55 - The Critical Role of Genetic Counseling & Family Care 41:30 - Q&A: Expert Insights for Modern Clinicians Watch Our Other Videos & Resources 1    / @appnapediatrics   2    / @appnapediatrics   3    • Lectures   4    / @appnapediatrics   5 https://appnapeds.org 6 https://appnapeds.org/links/ 7 https://appnapediatrics.org/ 8   / posts