INSPIRE study participants w/germline cancer testing did not experience significant DPI when receiving results w/o pretest counseling, suggesting #pretestcounseling for germline #cancerpredispostion may be a barrier to care bit.ly/4mHWIAC

Don’t ignore the #VUS. High-risk VUS in genes associated with hereditary thoracic aortic disease strongly associated with aortic dissection. bit.ly/4u1hXj7 #aortopathy #TAAD

The Telethon Undiagnosed Diseases Program (TUDP) at Italy achieved a 49% diagnostic rate and cut diagnostic delays to ~8 years, offering a scalable model for faster rare disease diagnosis in children. bit.ly/4cjob88 #GIMO #RareDiseases #ExomeSequencing #PediatricGenomics

ACMG survey shows growing wait times for genetics care, with many patients waiting over 6 months, highlighting workforce variability and the need for new strategies to improve access. bit.ly/4cqGZ49 #GIMO #ClinicalGeneticsServices #HealthServices #GeneticCounselors

Recalibrated #varianteffectpredictors modestly reclassify ~5% of missense VUS with strong agreement across tools, supporting their integration into ACMG/AMP #variantinterpretation. bit.ly/4clckoM #GIMO #PP3BP4Criteria #ACMG_AMPRecommendations #ClinGen

Insights from U-IMD registry reveal that diagnostic delay persists for rare metabolic genetic conditions, including some with diagnostic biomarkers, despite implementation of #NBS and #wholegenomesequencing bit.ly/3PZqi8r

A novel #amniocytetransdifferentiation approach enables rapid #RNAanalysis to resolve prenatal VUS in fetal akinesia, achieving 100% concordance with tissue findings within a 24-day window. bit.ly/4c67HQw #GIMO #FetalAkinesiaSyndrome #SplicingDefects #PrenatalDiagnosis

Study highlights #disparities in #expanded #carrier #screening across different populations. Improving access to genetic education and establishing consistent guidelines are crucial steps toward achieving more #equitable healthcare access. bit.ly/3O5S8PH #reproductive

Things are not always as they appear. A study found that 99% of healthy individuals have a genetic finding from #predictive #genomic #screening, underscoring the need for #genetic #counseling and #PCP communication for proper follow-up. bit.ly/41VI3Ie

Refining the process. Setting #BA1 and #BS1 thresholds can improve variant classification consistency and reduce misclassifications bit.ly/4sU7Uw3 #secondaryfindings #ACMGcriteria #DAFT

Genetic testing in Parkinson’s disease is gaining traction, with clinicians reporting fewer barriers and greater confidence since 2019 driven by expanded access programs and resources. bit.ly/3PRIrVz #GIMO #ParkinsonDisease #GBA #LRRK2 #GeneticTesting #Counseling

Everything is connected. Multi-trait #PGS framework improves #disease #prediction and enables #personalized #risk assessment through integration with non-genetic exposures. bit.ly/4t1tLBR #pleiotropy

Don’t put off 'til tomorrow what you can do today. Study findings support implementation of more frequent #exome #reanalysis to improve diagnostic yield #precisionmedicine bit.ly/3O34mbN

4 SMN2 copies ≠ mild SMA. Even with identical genetics, onset ranged from infancy to adulthood, and many lost ambulation. bit.ly/4v0RJOV

Time to rethink thrombosis risk stratification in PWS: It has distinct endotheliopathy with hypercoagulability in ~90% of patients, despite normal standard labs. bit.ly/4s89rxo

Sometimes nature is intolerant. Human #Intolerome #Database systematically evaluates genes associated with prenatal and perinatal lethality. bit.ly/3Q9PR6t #stillbirth #RPL #neonataldeath

More than a diagnosis -- suggested framework for therapeutic intervention after germline test results and creation of Interventional Genomics Boards to maximize implementation of personalized care. bit.ly/4sWjiI5

CHIP is everywhere but consistency is not. Different thresholds, genes, and methods lead to incomparable results. No standardization = no real clinical translation. Towards solutions. bit.ly/4bIv4j7

Knowledge is power—if shared. Most people with actionable variants follow medical advice, but less than half share their direct-to-consumer genetic results with healthcare professionals. bit.ly/4rRDfyb #GIMO #DTC #consumergenetics #preventativecare

Time for an update? Research #exome #sequencing can achieve up to 95% sensitivity in detecting #PKD1 variants, rivaling traditional methods. bit.ly/4cVfb9T #AKPKD #Pseudogenes

Opportunistic #genomesequencing in Canada revealed actionable health findings in many individuals, highlighting GS’s potential to support personalized, proactive care at the population level. bit.ly/4byQii5 #GIMO #GenomicScreening #OpportunisticScreening #GeneticAncestry

PGT-SR reveals that even small pericentric and paracentric inversions carry a small but measurable reproductive risk, challenging assumptions of minimal impact in IVF outcomes. bit.ly/4ufmCyO #GIMO #ChromosomeInversions #PericentricInversion #ParacentricInversion

Public attitudes in Germany toward #genomicnewbornscreening are largely positive despite low prior knowledge—highlighting the importance of improving genetic literacy to support informed acceptance. bit.ly/4ljhFku #GIMO #Advantages #Disadvantages #Knowledge #Uncertainty

Clinical risk factors like low birthweight, prematurity, and prolonged NICU stay can help identify infants most likely to benefit from genetic testing, streamlining diagnosis and care. bit.ly/40ieK1U #GIMO #NICU #Genome #GeneticTesting #RiskFactors #CriticalIllness

Integrating RNA analysis with clinical exome sequencing could resolve over 5% of uncertain variants, significantly boosting diagnostic accuracy for rare disease patients. bit.ly/4lgjsH8 #GIMO #ExomeSequencing #RareDisease #RNA #VariantClassification

First international guideline for Kleefstra Syndrome. 66 multisystem care recommendations plus recommendation for DNA methylation episignature and functional neuronal network testing when EHMT1 is negative or VUS. bit.ly/4bwdbTl

De novo LoF variants in RAPGEF2 define an AD neurodevelopmental disorder with GDD, speech delay, ADHD/autism ± epilepsy. bit.ly/4uc3lyb

Adults with intellectual disability support #precisionmedicineresearch but have mixed views on #datasharing —highlighting the need for trust-building partnerships and inclusive research practices. bit.ly/4cX3FdY #GIMO #AdultsWithIntellectualDisability #Harm

Lyso-Gb3 levels were elevated earlier than clinical symptoms in infants with LO FD, increased significantly in the first 2 years of life, and remained stable during follow-up. bit.ly/4ufQL18 #GIMO #Globotriaosylsphingosine #LysoGb3 #FabryDisease #LaterOnsetVariants