Fabric’s solutions for targeted screening and diagnostic panels
When children first present with symptoms that might be due to an underlying genetic cause, prompt genomic testing can lead to significantly better outcomes. Fabric Genomics enables clinical interpretation of disease-specific sequencing panels, so hospitals can rapidly diagnose and identify potential treatments. With Fabric Enterprise, hospitals can easily launch and scale panel testing for many conditions including developmental disorders, epilepsies, neurodevelopmental conditions, skeletal disorders, cardiac conditions, and pediatric oncology.
Examples of targeted sequencing panels for pediatric screening include:
Eye disorders like early onset glaucoma, congenital cataracts, and Leber congenital amaurosis
Developmental disorders like Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, and Rett syndrome
Cardiac conditions such as arrhythmia, heterotaxy, tetralogy of Fallot, dextrocardia, and primary ciliary dyskinesia (PCD)
Skin disorders like ectodermal dysplasia and cardio-facio-cutaneous syndrome
Skeletal disorders like osteogenesis imperfecta, skeletal ciliopathies, and craniosynostosis
Pediatric oncology, including solid tumors, sarcomas, and hematological malignancies
Screening newborns for harmful disorders that might not be apparent at birth, but are treatable if caught early, is critical for better clinical outcomes. Fabric Genomics dramatically accelerates accurate variant identification, classification, and clinical reporting, fulfilling the clinical potential of sequencing-based screening.
The time and labor associated with bioinformatic processing, variant annotation, and clinical reporting can exceed the combined cost of library prep and sequencing. Fabric Enterprise enables hospitals to provide accurate NGS testing in-house with comprehensive, up-to-date annotations and rapid interpretation workflows. Fabric Enterprise natively supports both targeted assays and in silico panels from a more comprehensive assay.
Fabric’s intuitive ACMG scoring workflow accelerates accurate and consistent classification of variants. Classified variants are added to a growing variant database that is referenced during subsequent analysis. As the number of clinically reported cases grows, more variant classifications can be reused, further reducing the turnaround time to sign out reports.
Fabric Enterprise is designed to support all NGS-based diagnostic tests regardless of test type or scale. Starting from either raw data or variant calls from whole genome, exome, or panel tests, Fabric Enterprise provides efficient workflows for genome annotation, interpretation, clinical report generation, and sign-off. And Fabric’s scalable cloud solution incorporates comprehensive data and network security protocols.
Fabric Enterprise is built for ease of use so you can focus on getting results rather than getting help
Kataryzna Ellsworth, PhD FACMG discusses implementation and scaling of rapid genome testing at Rady Children’s Hospital
