Knowledge is power—if shared. Most people with actionable variants follow medical advice, but less than half share their direct-to-consumer genetic results with healthcare professionals. bit.ly/4rRDfyb #GIMO #DTC #consumergenetics #preventativecare

Opportunistic #genomesequencing in Canada revealed actionable health findings in many individuals, highlighting GS’s potential to support personalized, proactive care at the population level. bit.ly/4byQii5 #GIMO #GenomicScreening #OpportunisticScreening #GeneticAncestry

PGT-SR reveals that even small pericentric and paracentric inversions carry a small but measurable reproductive risk, challenging assumptions of minimal impact in IVF outcomes. bit.ly/4ufmCyO #GIMO #ChromosomeInversions #PericentricInversion #ParacentricInversion

Public attitudes in Germany toward #genomicnewbornscreening are largely positive despite low prior knowledge—highlighting the importance of improving genetic literacy to support informed acceptance. bit.ly/4ljhFku #GIMO #Advantages #Disadvantages #Knowledge #Uncertainty

Clinical risk factors like low birthweight, prematurity, and prolonged NICU stay can help identify infants most likely to benefit from genetic testing, streamlining diagnosis and care. bit.ly/40ieK1U #GIMO #NICU #Genome #GeneticTesting #RiskFactors #CriticalIllness

Integrating RNA analysis with clinical exome sequencing could resolve over 5% of uncertain variants, significantly boosting diagnostic accuracy for rare disease patients. bit.ly/4lgjsH8 #GIMO #ExomeSequencing #RareDisease #RNA #VariantClassification

Adults with intellectual disability support #precisionmedicineresearch but have mixed views on #datasharing —highlighting the need for trust-building partnerships and inclusive research practices. bit.ly/4cX3FdY #GIMO #AdultsWithIntellectualDisability #Harm

Lyso-Gb3 levels were elevated earlier than clinical symptoms in infants with LO FD, increased significantly in the first 2 years of life, and remained stable during follow-up. bit.ly/4ufQL18 #GIMO #Globotriaosylsphingosine #LysoGb3 #FabryDisease #LaterOnsetVariants

#GenomeSequencing revealed genetic causes in nearly one-third of children with both cancer and birth defects—often tracing both to a single variant, though rare dual causes were also found. bit.ly/40xlXuV #GIMO #PediatricDisease #DualDiagnosis #GenomicDiversity

Although many #Hispanic males are interested in #genetictesting despite the higher likelihood of VUS, potential consequences include decisional regret, anxiety, and even changes in behavior-underscoring the need for tailored counseling. bit.ly/4rCDxK3 #GIMO

Higher epigenetic age at 3 years is linked to better cognitive and motor outcomes in preterm children, highlighting a potential biomarker for #neurodevelopmental trajectories. bit.ly/4aR983C #GIMO #Prematurity #EpigeneticAge #PediatricBuccalEpigeneticAge

Genetic counselors support #workplacegenetictesting to expand access but urge limits on employer access to data, highlighting the need for privacy and ethical safeguards in non-clinical testing. bit.ly/4tfJE8h #GIMO #ELSI #DirectToConsumerGeneticTesting

Improving intrafamily communication in #FabryDisease is key to #earlydiagnosis. Expert insights offer strategies to overcome knowledge, emotional, and systemic barriers for better outcomes. bit.ly/49FJHmg #GIMO #FamilyScreening #GeneticCounseling #CommunicationBarriers

A new genome-based CVD test integrates monogenic, polygenic, and #pharmacogenomic data, offering scalable and comprehensive risk insights with minimal interpretation burden. bit.ly/3NACxaj #GIMO #CardiovascularDisease #GenomeSequencing #PolygenicRisk #MonogenicDisease

Early #enzymereplacementtherapy in infantile-onset #Pompedisease improves survival and motor outcomes, but patients remain at risk for antibody development, highlighting the need for inducing and maintaining immune tolerance. bit.ly/4bQbzoV #GIMO #NewbornScreening

Survey of healthcare providers in Nepal reveals major barriers to genetic services, yet strong interest in further training highlights need for investment and expansion. bit.ly/4sLDxrZ #GIMO #CapacityBuilding #GeneticDisorders #GeneticServices #NeedsAssessment #Nepal

Rapid genome-based testing with an average TAT of 4.9 days identified reportable findings in 33% of critically ill infants, supporting its utility across a broad patient population. bit.ly/49q3i9T #GIMO #GeneticTesting #Infants #Neonatology #RapidGenomicTesting

Short- and long-read genomic sequencing reveal diverse breakage-fusion mechanisms in 17 #ringchromosome cases, offering nucleotide-level insight into ring formation and cytogenomic instability. bit.ly/49ePnTN #GIMO #SRGS #LRGS #T2T #RingFormationMechanisms

Translational readthrough-inducing drugs (TRIDs), highlighting NV848, shows promise in restoring #CFTR function in #cysticfibrosis patients with #nonsensevariants, offering hope for personalized therapy where current treatments fall short. bit.ly/48Ilco0 #GIMO

Minimally invasive retrieval of #cardiomyocytes via ablation catheters enables successful DNA extraction & sequencing, paving the way for #mosaicism detection & novel cardiac genetic research bit.ly/4pPYksf #GIMO #Epigenetics #ArrhythmogenicRightVentricularCardiomyopathy

A deep intronic variant in PHKG2 caused #pseudoexon inclusion and GSD IX γ2 in two siblings, highlighting a pathway to detect and reverse non-coding splicing defects using RNA-seq and #antisensetherapy. bit.ly/4pMlNdS #GIMO #GlycogenStorageDisease #NonCodingVariants

Studies showed physicians were less likely to recommend surgery or intensive interventions when GS predicted neurodevelopmental or cancer risks for ill children with CHD. bit.ly/4iIsk71 #GIMO #CriticalCare #Pediatrics #Rationing #GenomicTesting #CongenitalHeartDisease

C. elegans model enables rapid reclassification of FH gene variants, offering a powerful tool to interpret #VUS and improve diagnosis in FH-associated metabolic diseases. bit.ly/3M9lpHT #GIMO #FHfum1 #ClinicalVariant #CRISPR #VariantClassification #ClinicalDiagnosis

#Clinicalalgorithm helps to identify people likely to have G6PD deficiency, helping improve diabetes monitoring where HbA1c may underestimate blood sugar levels, especially in patients with African ancestry. bit.ly/3WTihSC #GIMO #Glucose6PhosphateDehydrogenaseDeficiency

ApplyPolygenicScore, a new R package, streamlines polygenic score calculation and visualization to empower broader use of genetic risk models beyond statistical genetics. bit.ly/47C1UQA #GIMO #PolygenicRiskModel #PolygenicRiskScore #Cancer #BodyMassIndex

What does #VUS mean to prenatal diagnostic testing? Study shows that children with a prenatal VUS diagnosis have similar developmental and health outcomes and family well-beings to those without. bit.ly/3WKRAPV #GIMO #ChromosomalMicroarrayAnalysis #PaediatricPopulation

#DelayedDiagnosis of alpha-mannosidosis is common especially in mild cases, highlighting the need for early diagnosis to facilitate timely treatment bit.ly/4oTXxpC #GIMO #AlphaMannosidosis #LysosomalStorageDisorder #DiseaseSeverity #RareDisease #EnzymeReplacementTherapy

Vosoritide not only boosts growth in children with achondroplasia but also improves craniofacial features, showing broader therapeutic potential beyond height alone. bit.ly/4nBUuBi #GIMO #Achondroplasia #FacialImaging #GeometricMorphometrics #3D

At ACMG 2023, a powerful plenary spotlighted the "#minoritytax" in medical genetics - prompting self-reflection, peer advocacy, and calls to transform this burden into "#minoritycapital." bit.ly/4hBErlN #GIMO #Diversity #DEI #UnderrepresentedInMedicine

Among Amish carriers of a #LongQTSyndrome founder variant, return of results was well received, but beta-blocker use was low, highlighting gaps in cascade testing and treatment uptake. bit.ly/3JedYOt #GIMO #KCNQ1 #OldOrderAmish #ReturnOfResults #CascadeScreening