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. https://t.co/oNPIFf7Ymo #GIMO #PersonalUtility #ClinicalGenetics @RobinHayeems

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 https://t.co/JZwRp0KYe5

Marketmakers can surpass the price whenever they want, but they can’t hide fundamentals forever. $ALICE (a single token) ≈ $44M $CHR (the Layer-1 powering it) ≈ $57M When the infrastructure is valued like one of its own apps… that’s not balance , that’s mispricing. $CHR is

GUÍA, an English/Spanish bilingual digital tool, boosts satisfaction and understanding of genomic results and offers an equitable model for diverse patient care. https://t.co/eXZubImceI #GIMO #GeneticCounseling #DigitalHealth #DigitalTools #GeneticTesting #GenomicMedicine

Peeling back the layers. Study finds #pseudoexons as a mechanism via which deep #intronic #variants cause #Mendeliandisease https://t.co/9TzrF2k82a

Not ready for prime time. Health system leaders and primary care providers see limited utility in #PRS results. https://t.co/X3McvCV5kM #clinicianperspectives #implementation

Police allowed people into the Capitol on January 6. 300 people were permitted to enter through the Upper West Terrace doors. Watch the whole way as it gets better and better. I'm the guy with the US flag bandana that the officer opens the door for at 1:02. Follow me for more

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. https://t.co/ivSMLfSZfT #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 https://t.co/Q0NaY4WhPx #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. https://t.co/VQw0ShXJB0 #GIMO #PrenatalCellFreeDNAScreening #RealLifeImplementationCohortStudy

Could methylation testing help identify fetal alcohol syndrome? https://t.co/Ki36srW0Ij #FASD #EpiSignature

Which trick helps you stay focused the longest?

New severity scores help non-invasively assess liver disease in pediatric GSD IX, while #liverbiopsy remains key for understanding fibrosis and guiding care. https://t.co/oYiCTg2mU6 #GIMO #GlycogenStorageDiseaseTypeIX #LiverDiseaseScoring #LiverFibrosis #LiverDiseaseSeverity

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 https://t.co/81BoXJiJQo

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. https://t.co/QvocOGBydD #GIMO #DigitalHealth #GeneticCarrierScreening #Cardiomyopathies

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. https://t.co/brIJBRBMNN #coronaryarterydisease

Ending the diagnostic odyssey with a rule-based search algorithm? 'ThinkRare' identifies undiagnosed individuals with rare genetic disorders in an EMR https://t.co/OLEsxT96E6 #bioinformatics

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 https://t.co/wHXjHczk8h @karinweiss_lab

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. https://t.co/WVsRtWy4pw #Genomics #HealthEquity

What's new in #ophthalmogenetics? Rare MIR184 variants are associated with Fuchs endothelial corneal dystrophy https://t.co/lIep6zVlfm #microRNA @aliceedavidson

#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. https://t.co/0EFD05P4ce #raredisease

Who is getting BRCA testing? Has testing increased following expanded clinical indications? https://t.co/nsXXCN7gPz #HealthcareUtilization #CancerPredisposition

De novo XPO1 variants cause a novel autosomal dominant neurodevelopmental disorder https://t.co/xXYMEpgHOB #Neurogenetics