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Genetics in Medicine @gimjournal.bsky.social · 21h

#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 Open @gimopenjournal.bsky.social · 30/09/2026

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

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Genetics in Medicine Open @gimopenjournal.bsky.social · 29/09/2026

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

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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 Open @gimopenjournal.bsky.social · 22/09/2026

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

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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 Open @gimopenjournal.bsky.social · 16/09/2026

Newborn screening has transformed child health, but expanding screening panels will require strong evidence, sustained policy support, and continued investment in rare disease research. bit.ly/3UVCxFq #GIMO #NewbornScreening #GenomicNewbornScreening

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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 Open @gimopenjournal.bsky.social · 27/08/2026

Pathogenic #POT1 variants are linked to a broad cancer spectrum, including #melanoma and breast cancer, with ultralong telomeres emerging as a potential biomarker for diagnosis. bit.ly/4qHyRD9 #GIMO #CancerPredispositionSyndrome #BreastNeoplasms #FounderVariant #Telomere

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Genetics in Medicine Open @gimopenjournal.bsky.social · 26/08/2026

Genome-based newborn screening identified CLN2 Batten disease before symptoms appeared, enabling early treatment and demonstrating the promise of genomic screening for treatable rare disorders. bit.ly/4y1a0fK #GIMO #CLN2 #BattenDisease #NewbornScreening #TPP1

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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 Open @gimopenjournal.bsky.social · 30/07/2026

#NewbornScreening is only the first step—timely diagnosis, #geneticcounseling, and coordinated long-term care are essential to turn early detection into better outcomes for families with #rarediseases. bit.ly/4wsmpZT #GIMO #DiagnosticOdyssey #CareCoordination

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Genetics in Medicine Open @gimopenjournal.bsky.social · 30/07/2026

#GeneticCounseling is the strongest predictor of genetic testing completion in Stargardt disease, while racial and socioeconomic disparities continue to limit access & clinical trial participation. bit.ly/4h5jZM2 #GIMO #ABCA4 #ClinicalTrialRecruitment #HealthDisparities

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Genetics in Medicine Open @gimopenjournal.bsky.social · 29/07/2026

Recurrent DDX23 gain-of-function variants cause a newly identified neurodevelopmental syndrome characterized by autism, #intellectualdisability, motor delay, and seizures. bit.ly/45sLEzj #GIMO #DEADBoxHelicase #DevelopmentalDelay #MissenseVariants #GainOfFunction

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Genetics in Medicine Open @gimopenjournal.bsky.social · 25/07/2026

A “test once, evaluate often” model could make genomic testing more equitable and affordable by enabling lifelong genome reuse instead of repeated sequencing. bit.ly/4pBqTdY #GIMO #GenomicReevaluation #Reanalysis #GeneticTesting #AccessToCare #HealthEquity

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Genetics in Medicine Open @gimopenjournal.bsky.social · 24/07/2026

Individuals with autism and/or IDD who declined genetic testing identify the biggest barrier was access, followed by personal concerns, deferring, and unclear reasons. Many later reconsidered, suggesting testing should be revisited over time. bit.ly/4hurbBn #GIMO

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Genetics in Medicine Open @gimopenjournal.bsky.social · 22/07/2026

Conflicting considerations in #PGT-P: application of four basic ethical principles and social structural perceptions of polygenic risk highlights complex challenges of implementing into routine clinical care. bit.ly/4gjrheO #GIMO

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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 Open @gimopenjournal.bsky.social · 14/07/2026

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

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Genetics in Medicine Open @gimopenjournal.bsky.social · 11/07/2026

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

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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 Open @gimopenjournal.bsky.social · 03/07/2026

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

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Genetics in Medicine Open @gimopenjournal.bsky.social · 02/07/2026

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

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Genetics in Medicine Open @gimopenjournal.bsky.social · 30/06/2026

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

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Genetics in Medicine Open @gimopenjournal.bsky.social · 30/06/2026

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

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

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

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