Genetics in Medicine

Expanded and universal #carrierscreening offers broad public health benefits, but successful implementation will require addressing ethical, emotional, and healthcare system challenges. bit.ly/4fdKrk2 #GIMO #ReproductiveScreening #EthicalLegalAndSocialImplications

Genome sequencing reveals higher rates of actionable genetic findings than previously reported, highlighting the importance of population-specific screening for precision public health. bit.ly/4ykW2qc #GIMO #CDCTier1Screening #GenomeSequencing #EastAsia

Development of criteria for sodium channel genomic variant classification identifies that many criteria may not be applicable, while others benefit from modification. bit.ly/3QPAykq

Scoping review of #LynchSyndrome #surveillance underscores the need for harmonized gene-stratified guidance and stronger prospective evidence #colorectal #cancer #screening. bit.ly/4bsebZ5

EvAgg, an open-source generative #AI tool, helps accelerate #raredisease diagnosis by extracting gene-specific variant and phenotype evidence from the literature. bit.ly/44cfAzh

ASXL3-related disorder shows substantial genetic and clinical variability, with variant location influencing severity and autism risk, underscoring the complexity of #genotypephenotype relationships. bit.ly/4eTmdLB #GIMO #ASXL3 #BainbridgeRopers #Molecular #Mechanisms

Genome sequencing plus RNA-seq uncovered a pathogenic PKD1 splice defect created by two adjacent benign variants, highlighting how hidden non-coding mechanisms can solve long-standing diagnostic mysteries. bit.ly/4vGfATX #GIMO #ComplexAllele #PKD1RNASplicing

Individuals with higher health-related social needs are more likely to receive genetics referrals, specifically those with Medicaid insurance or if they experienced financial stress. bit.ly/4eCuTHt #GIMO

Exome sequencing in Brazilian metastatic prostate cancer reveals distinct germline profiles and highlights somatic homologous recombination defects as major drivers of disease. bit.ly/4oWcY1X #GIMO #GeneticAncestry #GenomicLandscape #ProstateCancer

Study reveals diverse pre-mRNA processing gene variants in retinitis pigmentosa, with PRPF variants linked to more severe disease and many previously unreported variants identified. bit.ly/4oPfuqL #GIMO #AutosomalDominantRetinitisPigmentosa #ADRP #MRNAProcessing

Genetic test results are not commonly discussed with primary care providers following 'healthy' population genetic screening, which may limit clinical benefits of testing. bit.ly/4oOeJhz

A #phenotypic prediction score based on routine lab measures may help identify likely #G6PD rs1050828 heterozygotes in African and African American populations, supporting targeted confirmatory testing bit.ly/4w3otH1 #screening #diabetes

Heterozygous ATM pathogenic variants confer ~4× higher female breast cancer risk & clear increase in pancreatic cancer risk w/no significant excess ovarian/prostate risk—supporting ATM as moderate-risk breast & pancreatic cancer gene bit.ly/4u9hwmy

Aminoacyl-tRNA synthetases are the translators of mitochondrial protein synthesis. This review of 899 patients shows that mtARS defects produce gene-specific phenotypes and not a single mitochondrial syndrome, paving the way for targeted amino acid trials bit.ly/4uRDURS

Women with #BRCA1/2 variants have varying levels of decisional conflict when given information about polygenic risk scores, highlighting need for tailored #geneticcounseling for presymptomatic individuals considering prophylactic surgery. bit.ly/3QANquv

#Machinelearning algorithms like AlphaMissense and PrimateAI-3D complement the #ClinGen framework and support more accurate #missense #variant #classification. bit.ly/4vQ3WFK

What does it cost to bring genomic newborn screening to population scale? In England’s Generation Study: £1,208 per baby, or £963 without research-specific recruitment/consent. Sequencing drives 58% of costs, next is to show value. bit.ly/43FDzGQ

An expanding list of actionable genetic variants make a case for #populationgenomicscreening: in 50,000+ adults screened for up to 167 genes, 8.6% had actionable variants leading to risk‑reducing care with modest short term cost increases. bit.ly/4vK1u3E

Some Lynch patients with constitutional MLH1 methylation carry a cis promoter variant yet most don't. Short read panels miss both but long read sequencing catches the variant AND the methylation at once. bit.ly/4viCssD

A new study links ATRIP loss of function variants to a 2.5x ovarian cancer risk, extending earlier breast cancer findings and nominating ATRIP as a new susceptibility gene. bit.ly/4uABSFB