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 (available on-demand) and November 9, 2023 (live session).

The two-part event features 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 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).

Panelists

Dr. Lisa M. Vincent, PhD
Senior Laboratory Director of Organ Health and Genomic Platforms, Natera Inc, USA

Dr. Atil Bisgin, MD, PhD
Medical Geneticist, Department of Medical Genetics, Cukorova University, Turkey

Dr. Ana Krivokuca, PhD
Head, Department  Of Genetic Counselling Institute of Oncology and Radiology Serbia

Dr. Dan Richards, PhD
Vice President, Global Clinical Product Management, QIAGEN Digital Insights, USA

Moderated by:

Dr. Kathryn Bungartz, PhD
Professional Clinical Solutions Manager, QIAGEN Digital Insights

Hosted by:

Iman Bhattacharya, MS
Senior Global Product Marketing Manager, QIAGEN Digital Insights

Part 1: Educational talks - (Available on-demand)

An informative session exploring the latest databases, software, and services for germline secondary and tertiary NGS analysis. Part 1 was held on October 12, 2023, and is now available as an on-demand recording.

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

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.

Sample to Insight
linkedin facebook pinterest youtube rss twitter instagram facebook-blank rss-blank linkedin-blank pinterest youtube twitter instagram
This site is registered on wpml.org as a development site. Switch to a production site key to remove this banner.