Genetics in Medicine Open

Proactive laboratory-initiated #reanalysis of #exomesequencing (ES) can further reduce diagnostic #disparities, ensuring equitable access to genetic insights across ancestry groups. bit.ly/498hch5

📢 Call for Papers – Genetics in Medicine Open special issue on Challenges and Advancements in Newborn Screening. Share your research to shape the future of newborn screening. Info here 👉 bit.ly/47sjnvc #Genetics #NewbornScreening #CallForPapers

Is reduction in biomarkers enough? Venglustat treatment in adults with late-onset GM2 gangliosidosis reduces GM2 in CSF but did not show improvement in the clinical endpoints assessed bit.ly/43jwSuh #raredisease #taysachs

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

Second-tier (Cr/Crn)/GAA ratio improves PPV of #PompeDisease #NewbornScreening but can it predict disease onset? bit.ly/47nZlBy

Reporting #secondaryfindings (SFs) in prenatal diagnosis has proven clinical utility—supporting pregnancy decision-making, informing parents of potential health risks, and enabling proactive reproductive planning! bit.ly/4hA20vb #PrenatalDiagnosis #PrecisionHealth

Datasets from #gnomAD and #AllofUs are exponentially larger than previous resources. Leveraging these datasets is poised to significantly decrease the number of #VUS reported in highly penetrant, pediatric-onset diseases. #RareDisease #PrecisionMedicine bit.ly/3X4N9zu

What’s new in #OphthalmoGenetics? A recurrent missense variant in PPIB causes adult-onset dominant optic atrophy bit.ly/3X0sJaL #blindness #mitochondrial

The power of #MachineLearning for ACMG/AMP PM1 criterion: HCSeeker can identify hot spots and cold spots in 889 genes bit.ly/3JrQFRe #genome #exome

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

Twenty years of ERT! Long-term outcomes of 11 adults with infantile-onset Pompe disease treated with ERT bit.ly/4qHftWv

In Friedreich ataxia, type and position of interruptions in FXN GAA repeats defines three onset groups (< 15, 15-34, > 34 years), and multiple interruptions near the 3′ end can halt expansion ⛔, refining diagnosis and classification bit.ly/3WjYziv

🌎First international standard outcome set for liver GSD published. 72 stakeholders from 25 countries identified 14 key health outcomes including quality of life, metabolic control & treatment adherence. Major step forward for patient-centered care. bit.ly/4hwPm03

GOT2 deficiency causes progressive neurodevelopmental disorder with epilepsy, microcephaly & white matter abnormalities. Low aspartate & high G3P are biomarkers. Serine/pyridoxine helped control seizures in 86%. Pyruvate enables metabolic rescue. 🧠🧬 bit.ly/4nd90iQ

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

📊 New study quantifies phenotype specificity for FH missense variants in HLRCC. These ultra-rare variants are >200× enriched vs controls, giving powerful evidence to boost PP4 and improve variant classification 🧪🔍 bit.ly/47aElNj

Analysis of over 2,700 rare disease patients shows that non-recurrent ROH >5 Mb, especially in underrepresented groups, can reveal deleterious homozygous variants, aiding diagnosis. bit.ly/3IMAoq1 #GIMO #Microarray #consanguinity #UniparentalDisomy #RecessiveDisorder

Despite strong support for #pharmacogenomic testing in pediatric oncology, AYA patients and caregivers voiced concerns over data security and insurance, highlighting the need for inclusive, trust-building approaches. bit.ly/4n2oFkS #GIMO #Pharmacogenetics

Parents across genetics, #oncology, and #prenatalcare see value in #genetictesting, but priorities differ. This highlights the need for setting-specific tools to measure personal utility. bit.ly/4nLLwTh #GIMO #PersonalUtility #ClinicalGenetics

Systematic review of 18 studies: Alternative genetic counseling by phone, video, or written materials for high-risk breast cancer shows over 80% satisfaction & cost savings compared to in-person. Future work should focus on sustainability & implementation bit.ly/3Wuhgjsgjs

GUÍA, an English/Spanish bilingual digital tool, boosts satisfaction and understanding of genomic results and offers an equitable model for diverse patient care. bit.ly/4mU9kTC #GIMO #GeneticCounseling #DigitalHealth #DigitalTools #GeneticTesting #GenomicMedicine

Peeling back the layers. Study finds #pseudoexons as a mechanism via which deep #intronic #variants cause #Mendeliandisease bit.ly/46VDPT7

Not ready for prime time. Health system leaders and primary care providers see limited utility in #PRS results. bit.ly/48dfo62 #clinicianperspectives #implementation

A new method using #replicationcyclereaction (RCR) to phase heterozygous variants up to 152 kb apart - enabling accurate cis/trans determination in autosomal recessive disease genes. bit.ly/48JUV8Z #GIMO #VariantPhasing #CompoundHeterozygosity

This study demonstrated enhanced #structuralvariant (SV) detection by #genomesequencing (GS), supporting the utility of GS as the sequencing backbone to detect, characterize, and interpret SVs of cancer predisposition genes bit.ly/3VJwUqX #GIMO #CopyNumberVariant #DRAGEN

In vitro #fetalenrichment in cfDNA screening slashed #testfailure rates over 10-fold - ensuring timely, reliable results for all pregnancies, including those with high maternal BMI. bit.ly/3KpSVsA #GIMO #PrenatalCellFreeDNAScreening #RealLifeImplementationCohortStudy

Could methylation testing help identify fetal alcohol syndrome? bit.ly/46nsQ5Y #FASD #EpiSignature

New severity scores help non-invasively assess liver disease in pediatric GSD IX, while #liverbiopsy remains key for understanding fibrosis and guiding care. bit.ly/3VB0IpO #GIMO #GlycogenStorageDiseaseTypeIX #LiverDiseaseScoring #LiverFibrosis #LiverDiseaseSeverity