Genetics in Medicine
Genetics in Medicine, an official journal of @theacmg.bsky.social
Site use policy: bit.ly/gimconduct. Cover image by http://istockphoto.com user fanjianhua
- For Krabbe NBS, every day counts. In-lab psychosine: ~day 9. Clinical testing: ~day 16. When HSCT must happen by day 30, that week matters ⏰. bit.ly/4a245Ox
- New X-linked NDD gene: GSPT2. Translation defects drive ID, language impairment, autism, and epilepsy via GABA and calcium signaling. bit.ly/4qjdLZG
- #Equity-focused initiative enabled enrollment of previously underrepresented participants into the #RareGenomesProject (RGP) bit.ly/46hfE1W #raredisease
- #Scopingreview reveals that workforce shortages, infrastructure limitations, and economic challenges are key barriers to implementing #GenomeWideSequencing (GWS) programs worldwide. bit.ly/45MwpC0 #Geneticservicedelivery #implementation
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- Why aren’t polygenic risk scores in your clinic yet? This review identifies 8 key barriers, with model selection and clinical workflows emerging as major gaps. bit.ly/4thnToL
- Can genome instability drive regression in NDDs? This study proposes a polygenic DNA damage repair model linking impaired repair to somatic mutation and STR expansion in regressive cases. bit.ly/4k87X3T
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- Defining actionability in the era of prenatal and newborn genomic screening. bit.ly/4q1Jcs8 #GenomeSequencing #NewbornScreen
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- Is genomic testing worth it? This systematic review suggests yes, NGS is cost-effective, especially when used early. But studies vary wildly in methods and assumptions. Standardization is needed for policy. bit.ly/49BFVKt
- Lessons from 100,000 Genomes Project that improved NHS genome sequencing: (1) exclude phenotypes with <10% yield, (2) larger panels beat stacking small ones, (3) testing beyond trios adds little. bit.ly/3Zq4vrK
- New research reveals that people with #NF1 face higher mortality from nervous system diseases in addition to cancer, with nearly half of years lost due to non-neoplastic causes. bit.ly/49Nydf0 #causeofdeath #neurofibromatosis
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- Can't classify that RB1 👁️ missense variant? Luciferase assay measuring E2F1 inhibition discriminates pathogenic from benign. 5/16 VUS reclassified as likely pathogenic. bit.ly/3NjbxMo
- Small cohorts and siloed data limit rare disease research. RARE-X: one platform, 74 conditions, 7,400+ participants across 93 countries. Patient-driven, symptom-based, HPO-mapped, and shareable, built for discovery! bit.ly/3Yy7xKe
- Bigger CFTR panels, better CF screening? Not necessarily. 25 years of Massachusetts data show 98.7% sensitivity with just 39 variants. Expanded sequencing adds little yield but more cost and carrier detection. Simpler algorithm + good IRT cutoff = 🥇 bit.ly/45L23zw
- How many cardiac genetics 🫀 diagnoses are missed? Reanalyzing data with broader gene lists, intronic regions, mitochondrial DNA, and RNA splicing picked up 6% more diagnoses in previously negative cases! bit.ly/49nZEMo
- New XLID gene: KLHL13 keeps Aurora Kinase B in check during mitosis. LOF results in genomic instability and abnormal brain development. The exciting part? AURKB inhibitors rescue both cell and zebrafish models🐟. A targetable pathway for NDDs! bit.ly/4pxzGMh
- New research calls for a standardized approach to #TTN variant interpretation and deeper investigation into missing heritability in individuals with heterozygous TTNtv. bit.ly/4qgLW5k #titinopathies #cardiomyopathies #neuromusculardisorders
- Genotype-first approaches in genomic research enable a deeper, less biased understanding of #Mendelian diseases, improving assessment of their penetrance and presentation. bit.ly/45vtLAh #Genomics #AllofUS #PrecisionMedicine
- Genetics of infertility: Rare de novo EMX2 variants cause hypogonadotropic hypogonadism, developmental delay and hearing loss. bit.ly/3MV47P5 #GeneticsInFertility #exome
- What's new in mitochondrial genetics? MitoPhen v2 characterizes phenotypes in primary mitochondrial diseases and expands disease-gene relationships bit.ly/4aX9OWv
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- New study assesses the quality of #YouTube videos on #epigenetics, highlighting accurate information, misconceptions, and unsupported claims. bit.ly/44rEH1i
- #Genetic #testing offers valuable insights for #psychiatric patients, yet challenges in result interpretation highlight the need for improved understanding of its risks and benefits. bit.ly/4iP3BOm
- New research highlights the importance of better patient-provider communication about #breast #cancer risk and bridging gaps in #polygenic #risk score literacy to boost personalized screening uptake. bit.ly/4iHwkVe #PRS
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- Applications and matches to combined residency programs are increasing, but #workforce needs remain unmet. bit.ly/4olon9u #MedicalEducation #ResidencyMatch
- Improved healthcare has increased life expectancy for people with #DownSyndrome in #Latin American, but future population trends may be affected by access to prenatal screening and reproductive choices. bit.ly/3LVbANL
- Updating old standards for a new age. New consensus recommendations help guide the future of #newborn #screening. bit.ly/4ojFAjA #Genomicsequencing #DelphiTechnique #ICoNS
- Comparison of Black and White families w/de novo 22q11.2DS reveals distinct non-allelic homologous recombination patterns. Unique LCR22 haplotypes in Black individuals may reduce NAHR risk, helping explain lower prevalence of 22q11.2DS in this population bit.ly/4p6OeCZ
- Standardizing data access agreements is essential to keep human genomic data safe. bit.ly/4oTVEd5 #DataStewardship @GA4GH
- Can single-case experimental designs help overcome treatment barriers for individuals with #RareDisease? bit.ly/3X4dvBT #Nof1studies #PersonalizedMedicine
- ClinGen SCID Expert Panel developed gene-specific ACMG/AMP variant classification rules for 7 major SCID genes (ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, RAG2), resolving 17 ClinVar conflicts and clarifying classification of 85% of variants bit.ly/3LDXJv2
- In >1,000 rare disease trios tested, ES and GS showed similar diagnostic yields (~34%) and turnaround time (~8 wks). But GS’s added utility (finding repeat expansions, mtDNA, SVs) wasn’t fully implemented, true potential is likely greater! bit.ly/4i0IKay
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- Broad genomic screening beyond ACMG secondary findings genes finds more actionable results (35% of patients) BUT generates 30 VUS per patient & takes 7-13x longer to analyze. High yield comes with high burden. Automation needed for clinical feasibility. bit.ly/3JSQNte
- Among 532 rare disease diagnoses from genome sequencing, ~5% were potentially amenable to bespoke antisense oligonucleotide (ASO) therapy, and ~2% remained viable after delivery/disease review. Early diagnosis critical: most came too late. bit.ly/3LX0ZBC
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- Proactive laboratory-initiated #reanalysis of #exomesequencing (ES) can further reduce diagnostic #disparities, ensuring equitable access to genetic insights across ancestry groups. bit.ly/498hch5
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- Is reduction in biomarkers enough? Venglustat treatment in adults with late-onset GM2 gangliosidosis reduces GM2 in CSF but did not show improvement in the clinical endpoints assessed bit.ly/43jwSuh #raredisease #taysachs
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- Second-tier (Cr/Crn)/GAA ratio improves PPV of #PompeDisease #NewbornScreening but can it predict disease onset? bit.ly/47nZlBy
- Reporting #secondaryfindings (SFs) in prenatal diagnosis has proven clinical utility—supporting pregnancy decision-making, informing parents of potential health risks, and enabling proactive reproductive planning! bit.ly/4hA20vb #PrenatalDiagnosis #PrecisionHealth
- Datasets from #gnomAD and #AllofUs are exponentially larger than previous resources. Leveraging these datasets is poised to significantly decrease the number of #VUS reported in highly penetrant, pediatric-onset diseases. #RareDisease #PrecisionMedicine bit.ly/3X4N9zu
- What’s new in #OphthalmoGenetics? A recurrent missense variant in PPIB causes adult-onset dominant optic atrophy bit.ly/3X0sJaL #blindness #mitochondrial
- The power of #MachineLearning for ACMG/AMP PM1 criterion: HCSeeker can identify hot spots and cold spots in 889 genes bit.ly/3JrQFRe #genome #exome
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- Twenty years of ERT! Long-term outcomes of 11 adults with infantile-onset Pompe disease treated with ERT bit.ly/4qHftWv
- In Friedreich ataxia, type and position of interruptions in FXN GAA repeats defines three onset groups (< 15, 15-34, > 34 years), and multiple interruptions near the 3′ end can halt expansion ⛔, refining diagnosis and classification bit.ly/3WjYziv
- 🌎First international standard outcome set for liver GSD published. 72 stakeholders from 25 countries identified 14 key health outcomes including quality of life, metabolic control & treatment adherence. Major step forward for patient-centered care. bit.ly/4hwPm03
- GOT2 deficiency causes progressive neurodevelopmental disorder with epilepsy, microcephaly & white matter abnormalities. Low aspartate & high G3P are biomarkers. Serine/pyridoxine helped control seizures in 86%. Pyruvate enables metabolic rescue. 🧠🧬 bit.ly/4nd90iQ
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- 📊 New study quantifies phenotype specificity for FH missense variants in HLRCC. These ultra-rare variants are >200× enriched vs controls, giving powerful evidence to boost PP4 and improve variant classification 🧪🔍 bit.ly/47aElNj
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- Systematic review of 18 studies: Alternative genetic counseling by phone, video, or written materials for high-risk breast cancer shows over 80% satisfaction & cost savings compared to in-person. Future work should focus on sustainability & implementation bit.ly/3Wuhgjsgjs
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- Peeling back the layers. Study finds #pseudoexons as a mechanism via which deep #intronic #variants cause #Mendeliandisease bit.ly/46VDPT7
- Not ready for prime time. Health system leaders and primary care providers see limited utility in #PRS results. bit.ly/48dfo62 #clinicianperspectives #implementation
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- With Infantile Krabbe disease now on the RUSP, #NewbornScreening labs use psychosine as second-tier testing to allow for timely detection of Infantile Krabbe disease bit.ly/4nRbaph
