Genetics in Medicine

Expanded clinical spectrum of #RERE-related disorders and variant-specific approaches to management and genetic counseling. bit.ly/4tAQR1v #NEDBEH #genotypephenotypecorrelations #1p36

Current lack of consensus on how much clinical geneticists should expand their roles as #PRS is implemented across various clinical scenarios. Clear guidance, not gatekeeping, is needed for sustainable integration of PRS. bit.ly/4nlve3O #healthcaresystems

Recent research reveals that AOS, previously linked to NOTCH and CDC42/RAC1 signaling, can have unexpected genetic causes affecting entirely different cellular processes. bit.ly/3PmQeuq #AdamsOliversyndrome #pulmonaryhypertension #VCP

While most #ZIC1 gene variants usually lead to #craniosynostosis through a gain-of-function mechanism, loss-of-function variants can cause a #neurodevelopmental phenotype without craniosynostosis. bit.ly/4weDuqm

High anti-drug antibody levels increase risk of infusion reactions and can worsen disease in individuals with #Pompedisease, even if overall outcomes aren’t obviously greatly affected. bit.ly/4cW0Po9 #enzymereplacementtherapy

Individuals of African ancestry more often carry PKP2 variants linked to #ARVC, but show fewer clinical traits, suggesting incomplete penetrance or under-recognition of disease. bit.ly/4f2U8mF #GIMO #ArrhythmogenicRightVentricularCardiomyopathy #GeneticAncestry

ELX/TEZ/IVA therapy showed marked clinical and quality-of-life improvements in a #cysticfibrosis patient with a rare CFTR missense variant, highlighting potential benefits beyond currently approved genotypes. bit.ly/42bYMHz #GIMO #PrecisionTherapy #LungFunction

Variants in modifier genes impact epileptic phenotype of indivdiuals with #TSC diagnosis highlighting utility of broad based testing for #seizures

#Vosoritide may reduce the frequency of complications in children with #achondroplasia bit.ly/3R7koSY #foramenmagnumstenosis #mortality

Some people with #mesothelioma are reluctant to get #genetic #testing, worried about potential discrimination. Highlighting legal protection to support these patients. bit.ly/4vWI38J #Healthpolicy #cancerrisk

INSPIRE study participants w/germline cancer testing did not experience significant DPI when receiving results w/o pretest counseling, suggesting #pretestcounseling for germline #cancerpredispostion may be a barrier to care bit.ly/4mHWIAC

Don’t ignore the #VUS. High-risk VUS in genes associated with hereditary thoracic aortic disease strongly associated with aortic dissection. bit.ly/4u1hXj7 #aortopathy #TAAD

The Telethon Undiagnosed Diseases Program (TUDP) at Italy achieved a 49% diagnostic rate and cut diagnostic delays to ~8 years, offering a scalable model for faster rare disease diagnosis in children. bit.ly/4cjob88 #GIMO #RareDiseases #ExomeSequencing #PediatricGenomics

Colonialism, systemic discrimination, and racism have introduced barriers for #Indigenous families in healthcare. These challenges require resilience, often hindering access to #genomic #sequencing and extending journey toward a diagnosis. bit.ly/42alnEg #HealthEquity

ACMG survey shows growing wait times for genetics care, with many patients waiting over 6 months, highlighting workforce variability and the need for new strategies to improve access. bit.ly/4cqGZ49 #GIMO #ClinicalGeneticsServices #HealthServices #GeneticCounselors

Recalibrated #varianteffectpredictors modestly reclassify ~5% of missense VUS with strong agreement across tools, supporting their integration into ACMG/AMP #variantinterpretation. bit.ly/4clckoM #GIMO #PP3BP4Criteria #ACMG_AMPRecommendations #ClinGen

Insights from U-IMD registry reveal that diagnostic delay persists for rare metabolic genetic conditions, including some with diagnostic biomarkers, despite implementation of #NBS and #wholegenomesequencing bit.ly/3PZqi8r

A novel #amniocytetransdifferentiation approach enables rapid #RNAanalysis to resolve prenatal VUS in fetal akinesia, achieving 100% concordance with tissue findings within a 24-day window. bit.ly/4c67HQw #GIMO #FetalAkinesiaSyndrome #SplicingDefects #PrenatalDiagnosis

Study highlights #disparities in #expanded #carrier #screening across different populations. Improving access to genetic education and establishing consistent guidelines are crucial steps toward achieving more #equitable healthcare access. bit.ly/3O5S8PH #reproductive

Things are not always as they appear. A study found that 99% of healthy individuals have a genetic finding from #predictive #genomic #screening, underscoring the need for #genetic #counseling and #PCP communication for proper follow-up. bit.ly/41VI3Ie