Genetics in Medicine

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

First international guideline for Kleefstra Syndrome. 66 multisystem care recommendations plus recommendation for DNA methylation episignature and functional neuronal network testing when EHMT1 is negative or VUS. bit.ly/4bwdbTl

De novo LoF variants in RAPGEF2 define an AD neurodevelopmental disorder with GDD, speech delay, ADHD/autism ± epilepsy. bit.ly/4uc3lyb

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

No two are alike. Systematic review of adult outcomes of #CNV #deletion #syndromes may reveal opportunities to personalize care. #aging #cardiovascular disease bit.ly/4c0Re0t

New research highlights the long-term safety of #sepiapterin and demonstrates the potential for diet liberalization in adults and children with #phenylketonuria bit.ly/4tKb2LI

Beyond the diagnosis. #Genome #Sequencing provides opportunities for management, research, familial care and reducing unnecessary intervention: clinical utility. bit.ly/4bWgll1 #healthpolicy #raredisease

Should you recommend tyrosine supplementation for YARS1 deficiency? bit.ly/4anW9Y0 #raredisease

New research highlights that while pregnancy is typically safe for most with genetic diseases, certain conditions pose higher risks—underscoring the need for tailored counseling and proactive clinical management in prenatal care. bit.ly/4rKRvch

Beyond genome sequencing: RNAseq increases diagnostic yield in neurodevelopmental disorders bit.ly/46KwRRu #Transcriptomics #RNAseq

NICU genomics doesn’t end at diagnosis. Families report lasting trauma and the need for longitudinal genetic and mental health support. bit.ly/4rJQHEA

Ready for prime time. Study shows vosoritide trial results are reproducible and favorable in a real-world setting bit.ly/3ZOedVj #achondroplasia #precisionmedicine #growth