Genetics in Medicine Open

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

From CNV to single gene: heterozygous OSR2 loss-of-function variants in 6 families define a new cause of radioulnar synostosis. bit.ly/4rHOrhf

For Krabbe NBS, every day counts. In-lab psychosine: ~day 9. Clinical testing: ~day 16. When HSCT must happen by day 30, that week matters ⏰. bit.ly/4a245Ox

New X-linked NDD gene: GSPT2. Translation defects drive ID, language impairment, autism, and epilepsy via GABA and calcium signaling. bit.ly/4qjdLZG

#Equity-focused initiative enabled enrollment of previously underrepresented participants into the #RareGenomesProject (RGP) bit.ly/46hfE1W #raredisease

#Scopingreview reveals that workforce shortages, infrastructure limitations, and economic challenges are key barriers to implementing #GenomeWideSequencing (GWS) programs worldwide. bit.ly/45MwpC0 #Geneticservicedelivery #implementation

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

Why aren’t polygenic risk scores in your clinic yet? This review identifies 8 key barriers, with model selection and clinical workflows emerging as major gaps. bit.ly/4thnToL

Can genome instability drive regression in NDDs? This study proposes a polygenic DNA damage repair model linking impaired repair to somatic mutation and STR expansion in regressive cases. bit.ly/4k87X3T

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

Defining actionability in the era of prenatal and newborn genomic screening. bit.ly/4q1Jcs8 #GenomeSequencing #NewbornScreen

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

Is genomic testing worth it? This systematic review suggests yes, NGS is cost-effective, especially when used early. But studies vary wildly in methods and assumptions. Standardization is needed for policy. bit.ly/49BFVKt

Lessons from 100,000 Genomes Project that improved NHS genome sequencing: (1) exclude phenotypes with <10% yield, (2) larger panels beat stacking small ones, (3) testing beyond trios adds little. bit.ly/3Zq4vrK