Generation Bio’s Post

Delighted to see our publication online - As the number of genes associated with various germline disorders continues to grow, it is becoming more difficult for #clinical #laboratories to maintain separate assays for interrogating disease-focused #genepanels. One solution to this challenge is termed #slice testing, where a standard capture backbone is used to analyze data specific to a set of genes. Here, we provide #expert consensus #recommendations and explore specific considerations for slices, including gene selection, #analytical performance, #coverage, #quality, and #interpretation. Our goal is to provide comprehensive guidance for clinical laboratories interested in designing and using slice tests as a diagnostic. Thanks for the collaboration by members of the Association for Molecular Pathology (AMP), College of American Pathologists (CAP), and National Society of Genetic Counselors

BRILLIANCE trial on 14 participants born with #LeberCongenitalAmaurosis (mutation of CEP290) receiving the #CRISPR/Cas9 genome editing medicine #EDIT101, results in vision improvement for 11 of them! This trial included the first patient to ever receive a CRISPR-based investigational medicine directly inside the body. https://lnkd.in/e8herifJ

Navigating the complexities of hereditary disorders is challenging, especially when it comes to understanding the impact of genetic variants on mRNA splicing. Traditional diagnostic methods often hit a roadblock with genes that aren't expressed in accessible tissues. A recent study introduces CRISPR activation (CRISPRa) as a novel approach to bridge this gap, enabling the expression of such genes in skin fibroblasts for detailed analysis. This development suggests a potential for more detailed genetic analysis in a routine laboratory environment, contributing to the understanding of hereditary disorders. #Genetics #CRISPRa #ClinicalDiagnostics https://lnkd.in/dNtWpXZF

Did you know that "multiplexed assays of variant effect can characterise massive numbers of variants simultaneously, yielding variant effect maps that reveal the function of every possible single nucleotide change in a gene or regulatory element"? Learn more in Fowler et al "An Atlas of Variant Effects to understand the genome at nucleotide resolution" https://lnkd.in/gBiV25-D

I am happy to share a report, "Slice Testing-Considerations from Ordering to Reporting," co-authored with my colleagues and members of the Association for Molecular Pathology (AMP), National Society of Genetic Counselors, and the College of American Pathologists (CAP). Laboratories have long explored static panel testing as well as “virtual slicing” on a backbone of a large gene set. As the pace of gene-disease discovery accelerates, laboratories are increasingly looking at more efficient approaches to update panels in a timely fashion. This report provides recommendations into the entire process of slice testing, from ordering to reporting. By addressing critical considerations and best practices, this report aims to enhance the accuracy and efficiency of genetic testing. Thanks to Rong Mao and Jeff SoRelle for their leadership. Read more here:

Which diagnostic exploratory test should you order? In this "Hot Topic," explore a side-by-side comparison of diagnostic exploratory tests including whole exome sequencing and whole genome sequencing. https://bit.ly/3vwJJLO

A new paradigm is proposed that consists of simultaneous performance of whole genome sequencing and optical genome mapping to detect all types of genomic variation and performance of transcriptome analysis to establish the functional significance of the findings. In this paradigm Bionano Optical Genome Mapping (#OGM) would replace karyotyping, microarray analysis, repeat expansion sizing, and #FSHD testing while whole genome sequencing (#WGS) would replace #microarray, targeted panel, exome, mitochondrial genome sequencing, repeat expansion testing, mitochondrial depletion testing, and uniparental disomy testing.

Activities of enAsCas12f variants, SpCas9, and AsCas12a variants are comparable with minimum off target effect, due to its compact size it provides a robust and efficient tool for in vivo gene editing!

Changing the Clinical Genetic Testing Paradigm to Increase Sensitivity and Specificity. Showing the importance of #ogm and #wgs for study of all type of genomic variations.

Genome First and Ge-Med are #clinicalimplementationstudies that focus on identifying key pillars and processes for routine genome sequencing and predictive genomics in #clinicalsettings. The studies address test logistics, #patientcare processes, data reporting, and infrastructure. The model of providing #clinicalcare and #comprehensivegenomicanalysis from a single source can be used by other centers with similar structures to facilitate the implementation of omics-based #personalizedhealth concepts in medicine. The goal is to make #genomics and #multiomics more accessible and affordable in the era of #precisionmedicine. #genetics #healthcare #medicine