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November 12, 2019

A Multi-Gene Sequencing Approach for Hereditary Cancer Syndromes

Genome Webinar

This webinar discusses a cancer center's hands-on experience with a targeted approach for clinical cases of hereditary cancers.

Next-generation sequencing (NGS) in routine genetic diagnostic practices offers a rapid and cost-effective analysis for identifying pathogenic variants associated with hereditary cancer syndromes. To date, the Laboratory of Medical Genetics at St. Elizabeth Oncology Institute in Bratislava has analyzed more than 2,500 families with suspected hereditary cancer syndromes using the NGS technology.

The adoption of NGS not only allows for the simultaneous analysis of multiple genes but also accelerates the turnaround time for high sample volumes. However multi-gene NGS applications also present new challenges, such as the management of big data, the accurate detection and classification of genetic variants.

In this webinar, Dr. Jana Ziburova, Laboratory Diagnostician at St. Elizabeth Oncology Institute, shares her experience and describe:

  • An approach to detect hereditary cancers using the solution from Sophia Genetics
  • Benefits and challenges of using multi-gene NGS in complex clinical cases
  • How to identify pathogenic variants in unexpected genes not directly related to the disease