Clinical Whole Genome and blended Genome-Exome with return of results to support and accelerate biomedical research
Friday, November 10, 2023
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Chapters
Introduction-Robert C. Green
Speakers and Agenda
Accelerating biomedical research while also supporting clinical implementation and return of results with both WGS and a blended genome-exome
Support and Disclosures
Current Medical Uses of Genetic Testing
Near-Term Potential of Genetic Testing
Population Screening Initiatives
Why is preventive genomics using sequencing not in use?
Critical Bottleneck Area
Standardizing variant interpretation
The number of people carrying variants for monogenic diseases depends upon how many genes are analyzed
Genomic Findings in Healthy Individuals Based on ~6000 genes
For over 30 years, we have anticipated the day when newborns could have their DNA sequenced…
Increase in treatable genetic conditions
The BabySeq Project
Actionability Changes With Treatment
Clinical actionability of uMDR genes identified in BabySeq
Beyond infancy, genomics is a lifelong health resource if renewed with updated information…
International Consortium/Conference on Newborn Sequencing
2023 Conference: The Royal Institution, London October 5-6, 2023
acknowledgement
Accelerating biomedical research while also supporting clinical implementation and return of results with both WGS and a blended genome-exome-Diana Toledo
Broad Clinical Labs established to expand clinical services
We are CLIA, CAP, and New York State Certified
Scale: We have generated a lot of data!
We have generated a lot of data: Shift in paradigm from WES to WGS
BCL operates in both research and clinical arenas
Clinical WGS with Interpretation and RoR
New end-to-end clinical WGS with RoR launched earlier this year
Onboarding new customers at Broad Clinical Labs for cWGS with return of results
The clinical WGS with RoR test covers several intended uses
New Opportunity: Low Pass WGS/High Pass WES for imputation and rare variant calling
Blended Genome Exome (cBGE) for Clinical Use
cBGE in the Clinic can Increase Access
cBGE Limitations
Diagnostic vs. Screening Applications
Thank you!
Fabric Genomics Solutions To Enable Scaling Whole Genome Sequencing Analysis-Sean Hofhree
NGS data analysis & interpretation have become a critical bottleneck
Background
Fabric GEM is an AI-driven tool for fast diagnosis of rare genetic diseases in WES & WGS workflows
GEM : an International Academic-Industrial Collaboration
Benchmarking GEM with Rady’s
Fabric’s Automated Classification Engine (ACE)
ACE Implements ACMG Criteria According to a Variant Interpretation SOP Developed by Fabric
Benchmarking ACE with Broad Clinical Labs
Fabric Clinical- CLIA/CAP
Innovations in Molecular Newborn Screening by WGS
Fabric/Broad Clinical Labs Partnership and Offerings
New and Exciting from Fabric Genomics
Join the collaboration that is reducing the time to diagnosis in rare genetic neurodevelopmental disorders - Elizabeth Rountree
The Consortium for Outcome Measures and BIomarkers for NEurodevelopmental Disorders provides scientific support to 95+ patient advocacy groups
Underdiagnosis and late diagnosis is a significant problem in rare genetic neurodevelopmental disorders
Project FIND-OUT is designed to diagnose patients with symptoms of rare genetic neurodevelopmental disorders and build capacity for genetic testing
Project FIND-OUT is focused on diagnosing prevalent patients (e.g., not NBS) with RGND so that we do not leave any patients behind as science progresses
FIND-OUT 1 has a simple acronym for which patients qualify for whole genome sequencing: infants 3 – 12 months of age who meet any two criteria qualify
Families and healthcare providers have a simple and fast process to follow to obtain whole genome sequencing
Why did Project FIND-OUT select Broad and Fabric as our partners?
Thank you!
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