GenomeWebinars: Recent

Chronic myeloid leukemia (CML) is a blood cancer driven by the BCR-ABL1 fusion gene, and the T315I mutation within the ABL1 kinase domain is a well-known resistance mutation that renders many first- and second-generation tyrosine kinase inhibitors ineffective.

In this on-demand webinar from Labcorp, an internal molecular tumor board reviews the case of a patient with CML who developed a T315I resistance mutation, discussing the role of kinase domain mutation analysis, and third-generation tyrosine kinase inhibitors in overcoming therapeutic resistance.

Understanding male breast cancer and symptoms can lead to earlier detection and improved outcomes. Genomic testing at disease progression can be particularly helpful in identifying the complex mechanisms of treatment resistance, such as BRCA reversion mutations, to help inform treatment decisions.

In this on-demand webinar from Labcorp, an internal molecular tumor board discusses a case of male breast cancer with molecular evolution in the BRCA2 gene associated with therapeutic resistance, highlighting the importance of both germline and somatic testing for treatment implications.

Understanding the role of BRAF mutations in metastatic colorectal cancer (mCRC) can enhance prognostic insights and therapeutic decision making. In this webinar, Michelle Shiller, national medical director of genomics and molecular pathology services at PathGroup, will educate participants on the epidemiology of mCRC, the importance of BRAF as a prognostic and targetable biomarker, methods of testing for BRAF mutations, when to test patients with mCRC for BRAF mutations, and the role of multidisciplinary collaboration in testing.

Attendees will learn:

• The epidemiology of mCRC.
• The importance of testing for BRAF in mCRC.
• The importance of multidisciplinary team collaboration.

In the absence of genetic testing, is there a clear way forward with diagnosing and treating rare genetic diseases?

A great challenge in rare disease research is finding enough affected individuals to create large cohorts. In addition to limited logistical or financial access to NGS, clinicians are often left to rely solely on observed symptoms. Unfortunately, clear guidelines on facilitating diagnoses and care for many diseases in resource-limited settings are non-existent.

In this webinar, Claudio de Gusmao, director of the Pediatric Movement Disorders Program at the University of São Paulo, will show how his team developed a diagnostic and management algorithm using KCNA1 mutation-driven episodic ataxia type 1 (EA1) and CACNA1A mutation-driven episodic ataxia type 2 as a model. De Gusmao will explore how:

• Specific clinical variables can assist in the differential diagnosis of EA1 vs. EA2, such as attack duration, triggers, interictal symptoms, and more.
• Statistical analyses of published cases can potentially advance rare disease research.
• Comprehensive, human expert-curated variant data such as from Human Mutation Gene Database (HGMD) Professional can help streamline the process of vetting variants and published studies in preparation for systematic literature reviews.

Advances in genomic sequencing have revolutionized the diagnostic pathways for brain tumours, shifting focus to epigenetic signatures for classification. To capitalize on this shift, Matt Loose, professor of computational and developmental biology at the University of Nottingham, and colleagues developed ROBIN (Rapid nanopOre Brain IntraoperatIve classificatioN), a tool that uses PromethION nanopore sequencing technology for rapid and comprehensive molecular profiling of CNS tumours.

ROBIN offers real-time, intraoperative methylation-based tumour classification with next-day comprehensive molecular profiling within a single assay. This approach enhances classification precision and could aid surgeons in tailoring surgical strategies based on rapid genetic insights, thus balancing the risks and benefits of intervention.

Beyond methylation profiling, ROBIN detects single nucleotide variants, copy number variants, structural variants, deletions, and insertions in real time. Its ability to provide a complete integrated profile within 24 hours significantly enhances classification fidelity while reducing delays associated with additional assays.

ROBIN’s integration of real-time analysis, dynamic adaptive sampling, and cutting-edge algorithms represents a transformative advancement in brain tumour classification, that could deliver faster, more precise, and clinically actionable results to improve patient outcomes.

Key Takeaways:

• Real-time nanopore sequencing results enable rapid (intraoperative) methylation classification of tumours.
• ROBIN incorporates several molecular profiling bioinformatics pipelines to streamline CNS tumour classification and molecular profiling in under 24 hours.

The exponential growth of genomic data has created both opportunities and challenges for laboratories striving to scale operations across service lines. To address this data deluge, leveraging bioinformatics as a core strategy has become essential.

This webinar will explore how a leading genomics lab, the Advanced Precision Medicine Laboratory (APML) at the Jackson Laboratory, harnesses a streamlined bioinformatics workflow to enhance data integration and support scalability while maintaining accuracy and efficiency. APML has implemented Illumina Connected Software covering all their data needs from LIMS through analysis and variant interpretation. Melissa Kelly, clinical laboratory director of the Advanced Precision Medicine Laboratory, will explore how an integrated data ecosystem from sample management through interpretation helps her team get the result they can trust faster.

Kevin Moore, vice president of software product management at Illumina, will wrap up the presentation with a quick overview of the upcoming software advancements and how it will enable seamless end-to-end multiomics workflows.

Attendees will learn to:

• Build effective lab infrastructure with practical approaches.
• Align bioinformatics solutions with operational needs.
• Position labs for sustainable growth in an era of increasing data complexity.
• Harness the latest advancements in Illumina software that enable seamless integrated multiomics workflows.

In this webinar, attendees will hear from a panel of experts in the pharmacogenomics (PGx) space. These thought leaders will discuss consensus recommendations for standardization of alleles for pharmacogenomic genotyping assays. Attendees will gain insights into these evidence-based guidelines and the implementation of standardized PGx testing within the laboratory. This panel discussion will provide insights into the trajectory of PGx utilization, including challenges, future considerations, and the potential benefits to healthcare.

The rapid pace of innovation in oncology demands continuous learning and adaptation from cancer experts. From identifying new biomarkers to advancements in liquid biopsy technologies and evolving international standards, the challenge of staying informed is more pressing than ever.

In recognition of World Cancer Day, an expert panel will discuss early detection for intervention and monitoring after intervention. This session will explore the latest breakthroughs in cancer research, diagnostic methods, and translational science, providing guidance for enhancing patient outcomes.

Our expert panel will feature Lucia Cavelier, PhD, clinical laboratory geneticist at Karolinska University Hospital and co-director of clinical genomics at SciLifeLab, Holli M. Drendel, PhD, senior director, Molecular Pathology Laboratory and co-director, Parke Cytogenetics Laboratory at the Atrium Health Core Laboratory and Sridurga Mithraprabhu, PhD, senior research fellow at Myeloma Research Group.

Key topics:

• Recent breakthroughs: Methods for identifying early-stage cancer biomarkers.
• Liquid biopsy advances: Challenges and innovations in using blood, saliva, and urine for biomarker detection.
• Emerging tools in early detection: Exploring the role of circulating tumor DNA (ctDNA), exosomes, and microRNA.
• From research to practice: How new discoveries and technologies are shaping diagnostic strategies and patient monitoring.

Attendees will gain:

• Practical tips and expert insights into decoding cancer through the latest technologies.
• An understanding of the translational research shaping early detection and intervention strategies.
• Interactive engagement with leading cancer experts during a dedicated Q&A session.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes. It includes a genome-wide backbone so that ExomeXtra automatically includes an array CGH analysis, providing a comprehensive database for informed genetic diagnosis.

This brief webinar excerpt from CeGaT describes the importance of bioinformatic analysis in deciphering trio exome data and presents two patient cases in which careful bioinformatic analysis revealed findings that otherwise would have been missed.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes. It includes a genome-wide backbone so that ExomeXtra automatically includes an array CGH analysis, providing a comprehensive database for informed genetic diagnosis.

This brief webinar excerpt from CeGaT describes uniparental disomies and how CeGaT adjusted its bioinformatics pipeline to detect maternal and paternal isodisomies and heterodisomies, and it provides case studies in which uniparental disomies were identified with the ExomeXtra genetic test.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes. It includes a genome-wide backbone so that ExomeXtra automatically includes an array CGH analysis, providing a comprehensive database for informed genetic diagnosis.

This brief webinar excerpt from CeGaT describes trio sequencing and presents cases solved with trio sequencing using ExomeXtra.

ExomeXtra is a genetic test covering all protein-coding regions, over 46,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes.

This brief webinar excerpt from CeGaT reviews case studies illustrating the utility of the additional content included in the ExomeXtra genetic test.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes.

This brief webinar excerpt from CeGaT describes the ExomeXtra genetic test’s genome-wide copy-number variation backbone that enables exome sequencing and an array CGH analysis in the same test, providing a comprehensive database for informed genetic diagnosis.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes.

This brief webinar excerpt from CeGaT describes the ExomeXtra genetic test’s genome-wide copy-number variation backbone that enables exome sequencing and an array CGH analysis in the same test, providing a comprehensive database for informed genetic diagnosis.

Conventional molecular methods for identifying hemoglobinopathies and thalassemia often do not simultaneously detect copy number variations and mutations in the α-globin and β-globin genes. These limitations can lengthen turnaround times, raise costs, and sometimes miss critical information. 

In this webinar, Shabnam Tavassoli of the Hemoglobinopathy Reference Laboratory at UCSF Benioff Children's Hospital will present data on using NGS to detect hemoglobinopathies and thalassemia for the Newborn Screening Follow-Up Program in California. Tavassoli and colleagues assessed the NGS kit, Devyser Thalassemia, on samples from 107 newborns. The kit demonstrated high sensitivity and specificity in detecting both deletions and mutations. Notably, it successfully identified all cases of α-thalassemia and β-thalassemia, including compound heterozygous conditions.

The team found that screening for both deletions and mutations simultaneously provides a comprehensive genetic profile for newborns, facilitating early and accurate detection. This dual capability is particularly advantageous in regions with a high prevalence of thalassemia, where traditional methods may miss critical genetic variations.

What You Will Learn:

• How NGS can offer simultaneous detection of deletions and mutations in α- and β-globin genes in one test
• The advantages of comprehensive genetic profiling in newborns for faster and more accurate results
• How the assay enabled the discovery of Xmn1 polymorphisms and additional gene deletions