Pharmacogenomic (PGx)-guided therapy can reduce preventable adverse drug reactions. Most individuals carry at least one actionable #PGx #phenotype, and nearly half in this study had an #ADR-risk phenotype linked to a prescribed medication. bit.ly/4i1Q4D2

Negative blood exome sequencing does not exclude mosaic disease. This CGC review highlights affected-tissue sampling, high-depth NGS, ddPCR, and low-VAF variant interpretation in somatic overgrowth and vascular anomalies. bit.ly/47A99Ym

First tier rapid #exome/#genome #sequencing showed strong #diagnostic yield across #hospitalized #children, including non-ICU wards and failure to thrive admissions. bit.ly/4B8CExX

Biallelic SEPSECS variants cause a spectrum from severe neonatal encephalopathy to childhood-onset ataxia and cognitive decline. Pontine involvement is uncommon, supporting shift from “PCH2D” to SEPSECS-related NDD bit.ly/47jVzZ3

Rapid genome sequencing (RGS) identified actionable genetic conditions in nearly 40% of non-ICU care individuals, with majority having medical management changes within 30 days, highlighting utility of RGS outside of critical care settings. bit.ly/4hziTba

Not so Mendelian: NF1 variants were transmitted to offspring at higher-than-expected rates, suggesting transmission ratio distortion. bit.ly/3VFuyN2

#Genomesequencing reveals Fabry disease–causing variants are more common than expected in Japan, suggesting late-onset disease in women may be substantially underdiagnosed. bit.ly/4rPX7TU #GIMO #FabryDisease #GLA #PopulationGenomics #LateOnsetDisease #PrecisionMedicine

Three decades of data reveal the clinical and genetic landscape of Fanconi anemia in Portugal, highlighting founder variants and the prognostic value of #chromosomeinstability testing. bit.ly/4yKnflR #GIMO #FanconiAnemia #FANCA #CytogeneticDiagnosis #DEBTest

A newly found #DNAmethylation episignature for White-Sutton syndrome improves diagnosis and helps reclassify uncertain POGZ variants, advancing precision care for rare neurodevelopmental disorders. bit.ly/4j6YFqx #GIMO #Epigenetics #POGZ #WHSUS #WhiteSuttonSyndrome

#P-GUIDE is a validated tool that captures #parentsperspectives on the personal #utility of clinical #genetictesting, helping advance how we measure the value of testing across diverse clinical settings. bit.ly/4jAujN7

Population-specific optimization boosted polygenic risk score performance in East Asians, bringing more accurate and equitable breast cancer risk prediction one step closer to precision medicine bit.ly/4hkv2Rb #GIMO #BreastCancer #PopulationTransferability #AsianAncestry

AI-powered exome analysis can rapidly pinpoint disease-causing variants, accelerating diagnoses for children with rare genetic disorders. bit.ly/4iW0XZw #GIMO #ClinicalExomeSequencing #DiagnosticYield #ArtificialIntelligence #HPO

Telegenetics can help close gaps in cancer genetic care: nearly 90% of local providers joined a collaborative model, highlighting its potential to expand access nationwide. #GIMO #PrimaryCare #Telehealth #HereditaryCancer #GermlineTesting #GeneticTesting

Foramen magnum stenosis is a major cause of death in young kids with achondroplasia. In 9 infants starting vosoritide before age 3, the foramen magnum outgrew untreated reference curves, independent of height response. bit.ly/4yZUEsx

Across 20K families, Fam3PRO integrated 21 genes and 17 cancers for inherited cancer risk prediction, matching BRCAPRO and MMRpro performance while identifying more with pathogenic variants. bit.ly/4xFtu99

Indigenous-led governance is essential for ethical #biobanking and genetic data research. Highlighting consent, stewardship, data sharing, and data sovereignty as key priorities. bit.ly/4yNvZXY

Genetic counselors call for standardized guidance on managing medical updates in #gametedonation to improve transparency, protect families, and support informed reproductive decisions. bit.ly/4iJwUnz #GIMO #GeneticCounseling #DonorConceivedPersons #ReproductiveEthics

23 new individuals expand SET-related NDD, with GDD/ID, hypotonia and speech delay as core features. Most variants are truncating. A new SET DNA methylation episignature distinguishes cases from controls and helps interpret VUS. bit.ly/4hfhlDb

Context matters. Phone-based #patientnavigation did not improve genetic service use beyond usual care in a setting with established universal tumor screening—but may still help in lower-access settings. bit.ly/4h97DAQ #CRC #hereditarycancer #genetictesting

NBS for Fragile X syndrome using FMR1 methylation could be feasible. In 17,107 infants, the workflow identified likely cases in both sexes, supporting early diagnosis, family planning, and earlier intervention. bit.ly/4gXZtwl