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
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
September 27, 2025 at 12:08 AM
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
September 24, 2025 at 7:12 PM
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
Study finds #NF1 is associated with a 2.5% 10‐year risk for #myocardial #infarction at age 50, suggesting that NF1 is a major risk factor for myocardial infarction. bit.ly/42J9jdI #coronaryarterydisease
September 22, 2025 at 11:10 PM
Study finds #NF1 is associated with a 2.5% 10‐year risk for #myocardial #infarction at age 50, suggesting that NF1 is a major risk factor for myocardial infarction. bit.ly/42J9jdI #coronaryarterydisease
Ending the diagnostic odyssey with a rule-based search algorithm? 'ThinkRare' identifies undiagnosed individuals with rare genetic disorders in an EMR bit.ly/489W3mj #bioinformatics
September 19, 2025 at 8:33 PM
Ending the diagnostic odyssey with a rule-based search algorithm? 'ThinkRare' identifies undiagnosed individuals with rare genetic disorders in an EMR bit.ly/489W3mj #bioinformatics
Novel recessive NDD with autism, ID, and spastic paraparesis associated with a founder variant in TBCB with high rate of heterozygosity in the Ashkenazi Jewish population bit.ly/41YZU1B
September 18, 2025 at 10:20 PM
Novel recessive NDD with autism, ID, and spastic paraparesis associated with a founder variant in TBCB with high rate of heterozygosity in the Ashkenazi Jewish population bit.ly/41YZU1B
Genome sequencing costs for Indigenous children with #rarediseases match those of others, but bioinformatics costs are higher due to limited database representation. Enhancing diagnostic pathways can help close the genomic gap. bit.ly/42DOssj #Genomics #HealthEquity
September 18, 2025 at 2:54 AM
Genome sequencing costs for Indigenous children with #rarediseases match those of others, but bioinformatics costs are higher due to limited database representation. Enhancing diagnostic pathways can help close the genomic gap. bit.ly/42DOssj #Genomics #HealthEquity
What's new in #ophthalmogenetics? Rare MIR184 variants are associated with Fuchs endothelial corneal dystrophy bit.ly/46tATgt #microRNA
September 16, 2025 at 10:43 PM
What's new in #ophthalmogenetics? Rare MIR184 variants are associated with Fuchs endothelial corneal dystrophy bit.ly/46tATgt #microRNA
#Genomesequencing (GS) is more expensive than #exomesequencing but offers similar effectiveness. To maximize impact, GS should be reserved for patient groups where it can provide the greatest benefits such as by speeding up time to diagnosis. bit.ly/4mYJFda #raredisease
September 16, 2025 at 12:36 AM
#Genomesequencing (GS) is more expensive than #exomesequencing but offers similar effectiveness. To maximize impact, GS should be reserved for patient groups where it can provide the greatest benefits such as by speeding up time to diagnosis. bit.ly/4mYJFda #raredisease