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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 7h

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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Genetics in Medicine Open @gimopenjournal.bsky.social · 1d

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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Reposted by Genetics in Medicine Open

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

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

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 7d

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

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

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

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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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 13d

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

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Genetics in Medicine Open @gimopenjournal.bsky.social · 14d

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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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 15d

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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Genetics in Medicine Open @gimopenjournal.bsky.social · 16d

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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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 17d

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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Reposted by Genetics in Medicine Open

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

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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Reposted by Genetics in Medicine Open

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

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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Reposted by Genetics in Medicine Open

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

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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Reposted by Genetics in Medicine Open

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

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

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 24d

#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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Reposted by Genetics in Medicine Open

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

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

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Reposted by Genetics in Medicine Open

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

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

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 29d

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

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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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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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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Reposted by Genetics in Medicine Open

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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Reposted by Genetics in Medicine Open

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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