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Genetics in Medicine @gimjournal.bsky.social · 09/10/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 08/10/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 01/10/2026

#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

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Genetics in Medicine @gimjournal.bsky.social · 25/09/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 25/09/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 23/09/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 21/09/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 18/09/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 17/09/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 15/09/2026

Disability shapes research participation in rare disease genomics. Hope for diagnosis, community, and disability-conscious practices can bring families in—while travel, paperwork, and procedure burdens still create barriers. bit.ly/4j5nmmT

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Genetics in Medicine @gimjournal.bsky.social · 14/09/2026

New tool automates variant classification with high concordance to expert curation, improves handling of VUS, noncanonical splice, and stop-lost variants, and could help genomic interpretation faster, more consistent, and more clinically useful. bit.ly/3V9TN9V

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Genetics in Medicine @gimjournal.bsky.social · 11/09/2026

10-year study of atypical prenatal cfDNA screens found that 50% of follow-up cases had abnormal findings most often CNVs, aneuploidy, maternal X chromosome mosaicism or maternal diagnosis, highlighting need for targeted follow-up bit.ly/4xjI8mw

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Genetics in Medicine @gimjournal.bsky.social · 11/09/2026

Prospective #CHD #polygenic risk scoring is feasible in clinical care. In #eMERGE IV, 14.2% had a genetic risk factor, with EHR-integrated results and decision support to guide prevention. bit.ly/3UAQoRv #familyhistory #PRS

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Genetics in Medicine @gimjournal.bsky.social · 09/09/2026

De novo AXIN2 tankyrase binding domain variants expand disease beyond oligodontia colorectal cancer syndrome: developmental delay, ectodermal dysplasia, limb, eye and kidney anomalies are seen. Prime edited mice die shortly after birth with cleft palate bit.ly/4yvhbgH

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Genetics in Medicine @gimjournal.bsky.social · 05/09/2026

AI is here to stay, but are #genetics professionals ready? There's optimism about AI’s ability to support medical geneticists alongside hesitations around implementation, regulation, and ethics bit.ly/46cv9b4

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Genetics in Medicine @gimjournal.bsky.social · 04/09/2026

Analysis of 23K people showed genotype strongly predicts PKU severity. Adding VEP and SpliceAI functional annotations matched APV/GPV accuracy while extending prediction to rare alleles without established scores bit.ly/4gTtY5f

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Genetics in Medicine @gimjournal.bsky.social · 03/09/2026

It’s all about synergy. #Exome/#genome sequencing can identify #pathogenic #variants but may miss their functional impact. Adding #RNA-seq helps close that gap. bit.ly/4zPuFoQ #diagnosticutility

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Genetics in Medicine @gimjournal.bsky.social · 01/09/2026

In patients with LOF TCF7L2 variants, speech delay was nearly universal, with autism, myopia, and orthopedic findings also common. Phenotype did not track with variant type or location. A natural history study is now open. bit.ly/4gH1AmR

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Genetics in Medicine @gimjournal.bsky.social · 28/08/2026

A noninvasive bedside scan may offer a new window into muscle health in Pompe disease. Electrical impedance myography detected lower muscle phase angles, which tracked with both MRI fat fraction and poorer motor performance bit.ly/4qFwX5V

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Genetics in Medicine @gimjournal.bsky.social · 25/08/2026

Update on RNU4ATAC-opathy: the disorder is broader than dwarfism/microcephaly, often including immune deficiency, brain malformations, endocrine issues, and skin findings. RNA-seq also helped confirm hard-to-classify cases. bit.ly/4is9DX4

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Genetics in Medicine @gimjournal.bsky.social · 22/08/2026

Expanding the phenotype of RNU4ATAC-related disorders beyond dwarfism/neurodevelopmental differences, showing immune dysfunction. A new classification based on updated phenotype to inform diagnosis. bit.ly/45L74b9

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Genetics in Medicine @gimjournal.bsky.social · 21/08/2026

DNA methylation signatures for KMT2A- and KMT2B-related neurodevelopmental disorders help classify uncertain variants and improve diagnosis, especially in patients with atypical or overlapping clinical features. bit.ly/4bW0UbO

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Genetics in Medicine @gimjournal.bsky.social · 20/08/2026

#Biobanking can advance #SickleCellDisease research, but the informed consent process should reflect participant values and address trust and privacy concerns. bit.ly/3Sjjm7m #ResearchEthics #pediatrichematology #informedconsent

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Genetics in Medicine @gimjournal.bsky.social · 19/08/2026

The value of multimodal approaches for refining diagnosis and understanding #SMARCB1-related disease biology. bit.ly/4hHZjtQ #CoffinSirisSyndrome #MachineLearning #RareDisease

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Genetics in Medicine @gimjournal.bsky.social · 18/08/2026

#Genomic #newborn #screening is expanding worldwide, but policy decisions need rigorous evidence of clinical utility. bit.ly/4xJO9t0 #NBS #C-GUIDE #Clinicalutility

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Genetics in Medicine @gimjournal.bsky.social · 21/07/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 18/07/2026

Filling in the gaps. Reproductive carrier screening can facilitate timely detection of early actionable metabolic conditions. bit.ly/4yIgRMu #newbornscreening #metabolicconditions

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Genetics in Medicine @gimjournal.bsky.social · 17/07/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 16/07/2026

MAJIQ-CLIN is a user-friendly tool to aid in finding #Mendelian-causing #variants from #RNA-Seq data. bit.ly/4wD8lwm #raredisease #bioinformatics

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Genetics in Medicine @gimjournal.bsky.social · 15/07/2026

#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

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Genetics in Medicine @gimjournal.bsky.social · 10/07/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 09/07/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 07/07/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 26/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 25/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 24/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 23/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 19/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 19/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 17/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 16/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 13/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 11/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 11/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 10/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 09/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 06/06/2026

New best practice guideline on #NBS for #SMA establishes standardized, stepwise approach for diagnosis of SMA and subsequent interventions. bit.ly/4o8jVfL #spinalmuscularatrophy #newbornscreen

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Genetics in Medicine @gimjournal.bsky.social · 05/06/2026

#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

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Genetics in Medicine @gimjournal.bsky.social · 04/06/2026

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

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Genetics in Medicine @gimjournal.bsky.social · 03/06/2026

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

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