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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · 17h

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

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Genetics in Medicine @gimjournal.bsky.social · 5d

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

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Genetics in Medicine @gimjournal.bsky.social · 6d

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

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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · 7d

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

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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · 8d

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

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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · 9d

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

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Genetics in Medicine @gimjournal.bsky.social · 12d

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

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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · 13d

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

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Genetics in Medicine @gimjournal.bsky.social · 14d

With Infantile Krabbe disease now on the RUSP, #NewbornScreening labs use psychosine as second-tier testing to allow for timely detection of Infantile Krabbe disease bit.ly/4nRbaph

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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · 15d

DNA-poli is a digital platform to digitalize the cascade genetic testing process in cardiogenetics. An RCT will test its potential to boost uptake while matching the quality of standard care. bit.ly/46hDdrY #GIMO #DigitalHealth #GeneticCarrierScreening #Cardiomyopathies

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Genetics in Medicine @gimjournal.bsky.social · 16d

Study finds #NF1 is associated with a 2.5% 10‐year risk for #myocardial #infarction at age 50, suggesting that NF1 is a major risk factor for myocardial infarction. bit.ly/42J9jdI #coronaryarterydisease

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Genetics in Medicine @gimjournal.bsky.social · 19d

Ending the diagnostic odyssey with a rule-based search algorithm? 'ThinkRare' identifies undiagnosed individuals with rare genetic disorders in an EMR bit.ly/489W3mj #bioinformatics

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Genetics in Medicine @gimjournal.bsky.social · 20d

Novel recessive NDD with autism, ID, and spastic paraparesis associated with a founder variant in TBCB with high rate of heterozygosity in the Ashkenazi Jewish population bit.ly/41YZU1B

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Genetics in Medicine @gimjournal.bsky.social · 21d

Genome sequencing costs for Indigenous children with #rarediseases match those of others, but bioinformatics costs are higher due to limited database representation. Enhancing diagnostic pathways can help close the genomic gap. bit.ly/42DOssj #Genomics #HealthEquity

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Genetics in Medicine @gimjournal.bsky.social · 22d

What's new in #ophthalmogenetics? Rare MIR184 variants are associated with Fuchs endothelial corneal dystrophy bit.ly/46tATgt #microRNA

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Genetics in Medicine @gimjournal.bsky.social · 23d

#Genomesequencing (GS) is more expensive than #exomesequencing but offers similar effectiveness. To maximize impact, GS should be reserved for patient groups where it can provide the greatest benefits such as by speeding up time to diagnosis. bit.ly/4mYJFda #raredisease

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Genetics in Medicine @gimjournal.bsky.social · 26d

Who is getting BRCA testing? Has testing increased following expanded clinical indications? bit.ly/48dmpn5 #HealthcareUtilization #CancerPredisposition

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Genetics in Medicine @gimjournal.bsky.social · 27d

De novo XPO1 variants cause a novel autosomal dominant neurodevelopmental disorder bit.ly/4nvs4cQ #Neurogenetics

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Genetics in Medicine @gimjournal.bsky.social · 28d

In safety net NICUs, customized genomic reports empowered non-genetics providers and supported better care for critically ill infants. Patient-centered design advancing equity in genomic medicine. bit.ly/460WL3L #NICU #Genomics #HealthEquity

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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · 29d

Over half of cancers in relatives go undocumented in EHRs—risking missed chances to identify familial cancer risk and reduce preventable mortality. bit.ly/41GriRS #GIMO #FamilyHistory #CancerScreening #ElectronicHealthRecord #ClinicalDecisionSupport #Kinship

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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · Sep 8

Experience from sub-Saharan Africa: trio exome sequencing in Mali reveals high diagnostic yield (38%) and genetic diversity in epilepsy, underscoring the need for more inclusive genomic research bit.ly/3VGcHCi #GIMO #ExomeSequencing #TrioAnalysis #Epilepsy #Mali #Africa

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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · Sep 5

Remote genome sequencing study for rare disease? A fully remote, patient-led #genomesequencing study proves feasibility and impact, empowering families with actionable results and genetic insights. bit.ly/46nyncu #GIMO #PraderWilliSyndrome #Pharmacogenomics

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Genetics in Medicine @gimjournal.bsky.social · Sep 4

Study highlights clinical and genetic spectrum of Fanconi anaemia in Australia and NZ, urging increased testing and awareness for diagnosis and management. bit.ly/4g65S6p #GIMO #FanconiAnaemia #FanconiAnemia #ChromosomeFragilityTest #ChromosomeBreakageTest #DNARepair

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Genetics in Medicine @gimjournal.bsky.social · Aug 28

Looking beyond the U.S. - What are the unmet needs of the PKU community worldwide? bit.ly/4oXCV0D #NewbornScreening #Phenylketonuria

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Genetics in Medicine @gimjournal.bsky.social · Aug 28

DMD duplications on carrier screening are not always pathogenic. Many are interspersed and benign. Assuming tandem equals disease risks misclassification. Long read sequencing reveals structure and can prevent unnecessary interventions. bit.ly/3HI4b2v

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