Genetics in Medicine, an official journal of @TheACMG Site use policy: bit.ly/gimconduct. Cover image by istockphoto.com user fanjianhua.
Bethesda, MD
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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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