Genetics in Medicine
@gimjournal.bsky.social
Genetics in Medicine, an official journal of @theacmg.bsky.social
Site use policy: http://bit.ly/gimconduct. Cover image by http://istockphoto.com user fanjianhua
Site use policy: http://bit.ly/gimconduct. Cover image by http://istockphoto.com user fanjianhua
Applications and matches to combined residency programs are increasing, but #workforce needs remain unmet. bit.ly/4olon9u #MedicalEducation #ResidencyMatch
November 28, 2025 at 4:13 PM
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
November 26, 2025 at 7:32 PM
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
November 25, 2025 at 9:27 PM
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
November 24, 2025 at 8:52 PM
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
November 21, 2025 at 7:22 PM
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
November 20, 2025 at 10:24 PM
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
November 19, 2025 at 4:49 PM
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
November 18, 2025 at 9:08 PM
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
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
November 13, 2025 at 5:43 PM
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
November 12, 2025 at 9:31 PM
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
Proactive laboratory-initiated #reanalysis of #exomesequencing (ES) can further reduce diagnostic #disparities, ensuring equitable access to genetic insights across ancestry groups. bit.ly/498hch5
November 10, 2025 at 9:54 PM
Proactive laboratory-initiated #reanalysis of #exomesequencing (ES) can further reduce diagnostic #disparities, ensuring equitable access to genetic insights across ancestry groups. bit.ly/498hch5
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
November 7, 2025 at 4:59 PM
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
Second-tier (Cr/Crn)/GAA ratio improves PPV of #PompeDisease #NewbornScreening but can it predict disease onset? bit.ly/47nZlBy
November 3, 2025 at 10:54 PM
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
October 31, 2025 at 7:42 PM
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
October 30, 2025 at 10:05 PM
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
October 29, 2025 at 6:13 PM
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
October 28, 2025 at 5:37 PM
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
Twenty years of ERT! Long-term outcomes of 11 adults with infantile-onset Pompe disease treated with ERT bit.ly/4qHftWv
October 23, 2025 at 5:08 PM
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
October 22, 2025 at 8:40 PM
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
October 21, 2025 at 10:16 PM
🌎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
October 20, 2025 at 9:46 PM
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
📊 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
October 16, 2025 at 9:38 PM
📊 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
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
October 9, 2025 at 9:23 PM
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
Peeling back the layers. Study finds #pseudoexons as a mechanism via which deep #intronic #variants cause #Mendeliandisease bit.ly/46VDPT7
October 3, 2025 at 9:55 PM
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
October 2, 2025 at 8:38 PM
Not ready for prime time. Health system leaders and primary care providers see limited utility in #PRS results. bit.ly/48dfo62 #clinicianperspectives #implementation