2023 Clinical Hereditary Disease Diagnostics Summit
AI-Powered Hereditary Disease Diagnostics:
Closing the Gap in Clinical Exome Completeness
Part 1: October 12, 2023 | Part 2: November 9
Is hereditary disease diagnostics ready for AI?
Join thought leaders, NGS experts, lab directors, variant scientists, clinicians, and geneticists under one virtual roof at the QIAGEN Digital Insights Second Annual Clinical Hereditary Disease Diagnostics Summit hosted on October 12 and November 9, 2023.
The two-part event will feature important conversations on the opportunities and limitations of using artificial intelligence (AI) in hereditary disease diagnostics. Designed to help diagnostic labs learn how to safely apply AI to exome and genome sequencing workflows, the event will feature discussions on the future of hereditary disease diagnostics and educational presentations on the latest databases and AI-powered software for germline secondary and tertiary analysis.
SUMMIT AGENDA
Part 1: Educational talks - October 12, 2023
An informative session exploring the latest databases, software, and services for germline secondary and tertiary NGS analysis. There will be two different sessions in a European time zone (CEST) and North American time zone (EST).
Session 1 - Reducing secondary analysis time to keep pace with NGS
10:00 - 10:30 am (CEST) | 1:00 - 1:30 pm (EST)
With the increasing demand for speed, flexibility, and cost-efficiency in clinical NGS secondary analysis, diagnostic labs need a simple and seamless way to process more sequencing data without extensive time and resource investment. In this talk, learn about QCI Secondary Analysis, a cloud-based NGS secondary analysis service that requires <1 minute and <$1.00 to process one wes sample.
Leif Schauser, PhD
Director, Global Product Management
QIAGEN Digital Insights
Neha Jalan, PhD
Professional Services Solution Manager
QIAGEN Digital Insights
Session 2 - Closing the clinical exome gap in NGS variant interpretation
10:30 – 11:00 am (CEST) | 1:30 – 2:00 pm (EST)
To improve the diagnostics of rare genetic diseases, AI approaches to evidence curation and variant prioritization are becoming commercially available. In this talk, learn about QCI Interpret for Hereditary, a clinical decision support platform that combines the unmatched accuracy and consistency of QIAGEN’s proprietary expert (MD/PhD) curation with the superior efficiency of AI-powered curation to enable high-confidence variant interpretation and reporting of the complete clinical exome.
Georgios Stamoulis, PhD
Director, Global Product Management for Rare and Hereditary Diseases
QIAGEN Digital Insights
Session 3 - Using high-quality inherited disease databases to enhance variant classification
11:00 – 11:30 am (CEST) | 2:00 – 2:30 pm (EST)
Clinical diagnostic labs need access to curated, peer-reviewed evidence that will support more precise, comprehensive variant interpretation. In this talk, learn about Human Gene Mutation Database (HGMD) Professional, largest, manually curated resource for finding disease-causing mutations. All attendees will qualify for a free 5-day trial of HGMD Professional.
Tim Bonnert, PhD
Associate Director, Applied Advanced Genomics
QIAGEN Digital Insights
Ruth Burton, PhD
Field Application Scientist
QIAGEN Digital Insights
Araceli Cuellar, PhD
Field Application Scientist
QIAGEN Digital Insights
Part 2: Roundtable discussion with genomics experts – November 9, 2023
A panel discussion featuring experts in the field of clinical genomics that will explore the challenges and opportunities in the future of inherited disease diagnostic testing.There will be two different sessions in a European time zone (CEST) and North American time zone (EST).
Coming soon! Announcement of invited speakers
A must-attend event for clinical diagnostic labs
The 2023 Clinical Hereditary Disease Diagnostics Summit is a unique event for clinical diagnostic labs to explore new solutions, glean meaningful insights and tips, and connect with industry leaders.