Genetics in Medicine
@gimjournal
Genetics in Medicine, an official journal of @theacmg.bsky.social Site use policy: Cover image by user fanjianhua
Not ready for primetime. Study finds clinicians have differing views on whom to offer #PES, for what conditions, and how to factor PES scores and rankings when prioritizing embryos for transfer. bit.ly/4wfM8EU #PolygenicEmbryoScreening #PGT #REI #IVF
Filling in the gaps. Reproductive carrier screening can facilitate timely detection of early actionable metabolic conditions. bit.ly/4yIgRMu #newbornscreening #metabolicconditions
Early exome sequencing (ES) in children with suspected genetic diseases can cut costs, speed diagnosis, & reduce unnecessary follow-up testing. When ES is utilized as a 1st line test, it has the biggest impact on clinical decision-making & overall utility bit.ly/4f8zEZE
MAJIQ-CLIN is a user-friendly tool to aid in finding #Mendelian-causing #variants from #RNA-Seq data. bit.ly/4wD8lwm #raredisease #bioinformatics
#Genomic #newborn #screening could expand early detection beyond current programs and improve child health at scale—especially as safe, effective, and affordable gene-based therapies become available for more conditions. bit.ly/3RC0sZ9
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
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
Not so insignificant after all: VUS impacted clinician decisions in 92% of studies vs 56% for patient decisions. And some patients terminated pregnancies based on VUS alone. bit.ly/4oEKVEd
Taiwan's MPS newborn screening program shows that ACMG variant classification doesn't always predict biochemistry. Urinary GAGs are what discriminate true disease from infants who just need monitoring bit.ly/3Sfn1CO
Community-based #genomic testing in a predominantly #Hispanic cohort identified monogenic #cardiometabolic disorders in 2.2% of participants, supporting more #personalized risk stratification in #underserved populations. bit.ly/4es6QL7
New best practice guideline on #NBS for #SMA establishes standardized, stepwise approach for diagnosis of SMA and subsequent interventions. bit.ly/4o8jVfL #spinalmuscularatrophy #newbornscreen
#Rare #disease studies often capture only age and sex. Standardized, privacy-conscious data collection could improve #inclusion and advance #equity in rare disease #research bit.ly/4uRLpJn
Three #ClinGen #variant #curation #workshops engaged 200+ participants from 13+ countries across three international genetics groups, highlighting a scalable model for #genomics #training in low-resource settings. bit.ly/49AyVxc #education
Conversations about metabolic genetics interventions highlight need for training and decision aids to support clear, compassionate, family-centered communication so patients and caregivers can truly share in treatment decisions over time. bit.ly/4dWbSOJ
In 220,000 baby NC pilot, first tier enzyme activity for MPS II newborn screening has 6.1% PPV, many pseudodeficiency false positives. NRE GAG as second tier lifts it to 100%, IDS sequencing alone only to 30%. bit.ly/4uApmGM
A new international consensus for Loeys Dietz Syndrome diagnosis and management, calls for broader genetic testing, routine imaging, early use of ARBs/β-blockers, lower surgical thresholds for aortic repair, and careful pregnancy planning/surveillance. bit.ly/4vdJ6jn
FAT1, FAT2, FAT4 had disease links, but FAT3 was the holdout until now! Biallelic FAT3 variants cause recessive axonal neuropathy with cranial nerve involvement. bit.ly/4nQNpP8
Biallelic DIAPH1 loss of function isn't just neurodevelopmental. 13% of patients develop lymphoma, and fibroblasts have DNA repair defects. Standard chemo may be too toxic (cm). bit.ly/3RJDfUv