Opportunistic #genomesequencing in Canada revealed actionable health findings in many individuals, highlighting GS’s potential to support personalized, proactive care at the population level. bit.ly/4byQii5 #GIMO #GenomicScreening #OpportunisticScreening #GeneticAncestry

Opportunistic #genomic screening for familial #hypercholesterolemia showed a small, non‑significant drop in LDL‑C, with Bayesian #analysis suggesting a likely benefit. Results hint at #clinical value but need larger trials.

#Genomicscreening

Read More Here: buff.ly/pJiZfj0

JAMA Network Open graphic details an RCT on genomic screening for familial hypercholesterolemia, showing population (94 men, 18 women), intervention (112 participants), and findings (LDL-C reduction). Immediate disclosure: 55, delayed: 57.

RCT: Opportunistic #GenomicScreening for familial hypercholesterolemia + telegenetic counseling did not substantially lower #LDL_C at 6 months vs delayed results; further research is needed for clinical implementation. ja.ma/4jH5rBy

GeneDx outlines NIH BEACON and Florida pilot; advocates urge Connecticut to add Gaucher to newborn screen GeneDx described its role in the NIH BEACON multi‑state genomic newborn‑screening study and Florida’s Sunshine Genetic pilot; patient advocates urged Connecticut to pursue Gaucher disease screening to shorten diagnostic delays and prevent irreversible harm.

GeneDx is revolutionizing newborn genomic screening, but advocates are pushing Connecticut to add Gaucher disease to the panel to prevent devastating delays in diagnosis.

Click to read more!

#CT #GenomicScreening #PublicHealth #RareDiseases #CitizenPortal

💡Standard #newbornscreening (the heel-prick test) currently covers 32 conditions. A major Victorian study, BabyScreen+, explored whether #wholegenomesequencing  could expand this by analysing each baby’s full #genetic makeup.

#BabyScreenPlus #GenomicScreening #NewbornScreening

🧠 Arc Workshop at the upcoming scverse conference 2025 🧠

Processing and Modeling Large-Scale Single-Cell Perturbation Data with Machine Learning
🧵

@arcinstitute.org

#scverse2025 #PerturbSeq #MachineLearning #SingleCell #CRISPR #GenomicScreening #VirtualCells

🧠 Arc Workshop at the upcoming scverse conference 2025 🧠

Processing and Modeling Large-Scale Single-Cell Perturbation Data with Machine Learning
🧵

@arcinstitute.org

#scverse2025 #PerturbSeq #MachineLearning #SingleCell #CRISPR #GenomicScreening #VirtualCells

Genomic screening is important in identifying disease risk – BioNews Central Genomic screening of more than 175,000 participants identified potentially actionable results in 1 in 30 individuals, highlighting its usefulness in detecting disease risk. ...

#GenomicScreening of more than 175,000 participants identified potentially actionable results in 1 in 30 individuals, highlighting its usefulness in detecting #DiseaseRisk.
#GeneticRisk #DiseasePrevention

Screenshot of Figure 2: Cumulative incidence byTTRp.(Val142Ile) variant status of first diagnosis of ATTRv-related clinical features in individuals ≥60 years of age. A-E. Cardiomyopathy or heart failure (A), atrial fibrillation (B), polyneuropathy (C), carpal tunnel syndrome (D), and proteinuria (E).

Waving the red flag: #Genome-first approach identifies important #ATTRv-related clinical features in an ancestrally diverse population bit.ly/3WNZyIs #amyloidosis #cardiomyopathy #genomicscreening