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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The impact of an NF1 diagnosis reaches the whole family - having a child with NF1 is associated with long-term declines in parental income and employment growth, highlighting the need for tailored support for families. bit.ly/4yUkca3
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How often should BRCA1/2 genomic variants be reinterpreted? Modeling suggests periodic, time-limited reclassification is more cost-effective than indefinite review, with much of the benefit extending to relatives through cascade testing. bit.ly/48tgvgx
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P-KNN is a new variant classification tool that integrates multiple pathogenicity prediction models into a single, calibrated score, rather than precommitment to a single predictor, providing stronger evidence of pathogenicity. bit.ly/4e4zkdm
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Modern-day mimic? #Prenatal #fentanyl exposure may represent a human #teratogen, with Smith Lemli Opitz Syndrome (#SLOS)-like findings suggesting disrupted #cholesterol #metabolism. bit.ly/4e5xSY9
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Can PRS truly personalize cancer screening? Patients and clinicians were more likely to intensify screening after high-risk PRS results than reduce screening after low-risk results, highlighting challenges in risk communication. bit.ly/48gJu7c
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A new online tool for hereditary cancer patients helped more people share genetic test results but didn’t increase follow-up talks. Clinician support in family communication as test results are first shared may increase distribution of information bit.ly/3W2iS7i
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An EHR-based score to flag people likely to have severe AATD (PiZZ) using routine data like COPD, bronchiectasis, cirrhosis, and height; could cut testing by 95%+ vs random screening. bit.ly/4yIlCnX
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Pharmacogenomic (PGx)-guided therapy can reduce preventable adverse drug reactions. Most individuals carry at least one actionable #PGx #phenotype, and nearly half in this study had an #ADR-risk phenotype linked to a prescribed medication. bit.ly/4i1Q4D2
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Negative blood exome sequencing does not exclude mosaic disease. This CGC review highlights affected-tissue sampling, high-depth NGS, ddPCR, and low-VAF variant interpretation in somatic overgrowth and vascular anomalies. bit.ly/47A99Ym
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First tier rapid #exome/#genome #sequencing showed strong #diagnostic yield across #hospitalized #children, including non-ICU wards and failure to thrive admissions. bit.ly/4B8CExX
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Biallelic SEPSECS variants cause a spectrum from severe neonatal encephalopathy to childhood-onset ataxia and cognitive decline. Pontine involvement is uncommon, supporting shift from “PCH2D” to SEPSECS-related NDD bit.ly/47jVzZ3
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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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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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#Genomesequencing reveals Fabry disease–causing variants are more common than expected in Japan, suggesting late-onset disease in women may be substantially underdiagnosed. bit.ly/4rPX7TU #GIMO #FabryDisease #GLA #PopulationGenomics #LateOnsetDisease #PrecisionMedicine
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Three decades of data reveal the clinical and genetic landscape of Fanconi anemia in Portugal, highlighting founder variants and the prognostic value of #chromosomeinstability testing. bit.ly/4yKnflR #GIMO #FanconiAnemia #FANCA #CytogeneticDiagnosis #DEBTest
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A newly found #DNAmethylation episignature for White-Sutton syndrome improves diagnosis and helps reclassify uncertain POGZ variants, advancing precision care for rare neurodevelopmental disorders. bit.ly/4j6YFqx #GIMO #Epigenetics #POGZ #WHSUS #WhiteSuttonSyndrome
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#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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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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AI-powered exome analysis can rapidly pinpoint disease-causing variants, accelerating diagnoses for children with rare genetic disorders. bit.ly/4iW0XZw #GIMO #ClinicalExomeSequencing #DiagnosticYield #ArtificialIntelligence #HPO
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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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