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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · 3d

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

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Genetics in Medicine @gimjournal.bsky.social · 3d

📊 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

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Reposted by Genetics in Medicine

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

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

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Reposted by Genetics in Medicine

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

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

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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · 10d

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

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Genetics in Medicine @gimjournal.bsky.social · 10d

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

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Reposted by Genetics in Medicine

Genetics in Medicine Open @gimopenjournal.bsky.social · 12d

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 · 16d

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 · 18d

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 · 19d

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 · 20d

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 · 21d

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 · 23d

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 · 25d

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 · 26d

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 · 27d

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 · 27d

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 · Sep 19

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 · Sep 18

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 · Sep 18

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 · Sep 16

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 · Sep 16

#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 · Sep 12

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 · Sep 11

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 · Sep 10

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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