GenomeWebinars

This webinar will discuss a multigene approach to personalizing treatments for high blood pressure.

Although pharmacogenetic testing has become more widely adopted, providing patients with more genetically informed therapies, the vast majority of currently available clinical PGx testing focuses on genes involved in drug metabolism and transport. While these drug-metabolizing enzyme panels are important, there is evidence that in highly multifactorial diseases such as hypertension there are other genetic factors that strongly affect a patient’s response to therapies.

In this webinar, Dr. Ryan Sprissler of Geneticure will discuss a study examining these genetic determinants of hypertension therapy response that has shown that common and functional genetic variation plays a role in the variability of treatment effectiveness and may modulate the bell-curve response to many therapies.

Dr. Sprissler will share details on how these factors and subsequent trial data have led to the development of a multiplexed panel using a weighted algorithm to ultimately better predict individual therapy response.

In this webinar, Ngoc-Tung Tran, Postdoctoral Researcher at the Max Delbrück Center for Molecular Medicine, will provide a general introduction of the CRISPR/Cas9 system. He will summarize the current approaches to enhanced homology-directed repair for precise gene editing. Regarding gene therapy applications, he will point out the differences between precise gene editing by CRISPR/Cas9 and gene delivery by viruses. He will also discuss the potential limitations of CRISPR/Cas9 for clinical applications as well as the current status of solving these limitations.

The webinar will include an example of gene correction using CRISPR/Cas9 in his lab. Specifically, he will discuss ELANE mutation correction in patient-derived hematopoietic stem cells, and the potential of this approach as a potential gene therapy for severe congenital neutropenia.

This webinar provides a first-hand look at how a molecular laboratory validated and implemented a targeted next-generation sequencing-based myeloid assay to expedite the assessment of myeloid malignancies and assist in the understanding of myeloid cancers.

The most recent version of the World Health Organization classification system for myeloid neoplasms and acute leukemia, published in 2016, added a number of important biomarkers and genetic alterations for the assessment of myeloid malignancies. As the list of relevant molecular markers continues to grow and new targeted therapies are approved, traditional, single-gene approaches for analyzing myeloid malignancies have become laborious and time consuming. Next-generation sequencing has emerged as the optimal solution by enabling comprehensive assessment of all relevant molecular markers in a single NGS run.

In this webinar, Dr. Nancy Carson, Head of the Division of Genetics at the Saint John Regional Hospital, discusses her team’s experiences as one of the first labs in Canada to implement an NGS-based myeloid assay.

Dr. Carson discusses:

• Unique considerations and applications of NGS in myeloid malignancies
• Overview of her experience with with analytical validation and implementation of the assay
• Impact of the implementation of the assay to date through case studies
• Future directions

This webinar discusses the evolution of fetal aneuploidy screening and the most recent evidence around the implementation of prenatal cell-free DNA testing in clinical practice.

Non-invasive prenatal testing (NIPT) by cell-free DNA testing has rapidly become an integral part of clinical care, and clinical studies demonstrating its high accuracy for trisomy 21 are familiar to most obstetric providers.

In this webinar, Kypros Nicolaides, Professor and Director of Fetal Medicine at King’s College, London, reviews the most recent evidence demonstrating the clinical value of cell-free DNA testing in prenatal care, discuss different implementation models, and share his own experience with cell-free DNA testing for fetal aneuploidy. He also discusses the patient perspective and how different factors may influence the choices and preferences of pregnant women for prenatal care.

This webinar explores the concept of laboratory stewardship as a way of viewing and improving healthcare delivery, through the consistent and persistent search for ways to increase testing efficiency and effectiveness, decrease waste, and therefore improve patient care quality. 

The old model for clinical laboratory testing focused largely on a fee-for-service reimbursement environment, where additional volume always translated to additional revenue, and tests were relatively inexpensive. Many laboratorians exerted little influence on provider test utilization practices and opted to simply perform whatever tests the provider ordered, whenever they were ordered. As a result, and not surprisingly, patterns of overutilization, underutilization, and mis-utilization of tests emerged and persisted.

This presentation supports a new model of laboratory service delivery, where laboratory leaders assume new roles of greater involvement and influence in the selection and performance of tests, as part of a collaborative team effort that crosses departmental boundaries. This concept and process has been referred to in recent literature as “laboratory stewardship” and has been the basis for significant patient care improvements in many laboratories. It fits perfectly within the new environment of accountable care organizations, rapid growth of expensive genetic tests, and the ongoing desperate attempts to control healthcare costs. It also fits well with efforts to improve lab testing efficiency and productivity, through the careful selection of QC materials and testing platforms.

This webinar demonstrates, through example and case study, several ways most laboratories, organizations, and patients can benefit greatly from the laboratory stewardship approach. It will emphasize the need to adopt a collaborative proactive approach to healthcare delivery, recognizing that the clinical laboratory is positioned uniquely to exercise considerable positive influence to this effort.

Learning Objectives:

• Understand and be prepared to incorporate the concept of laboratory stewardship as a tool for improving patient care.
• Review and discuss examples and case studies where stewardship interventions have resulted in significant savings and patient care improvements.
• Go forward with a commitment to find and act upon stewardship opportunities in your own organization.

This webinar will discuss how a clinical lab rapidly implemented a robust automated library preparation workflow that reduces hands-on time and increases sample throughput for a better diagnosis of kidney diseases.

The adoption of next-generation sequencing (NGS) in clinical laboratories has drastically changed the way genomic analyses are performed. With its ability to deliver comprehensive target coverage, NGS technology enables the detection of low-frequency variants and accelerates turnaround times for high sample volumes. But despite the vast improvements in sequencing methods that have decreased bias rates, data analysis can still be impaired by human errors during library preparation. Considering the complexity of the workflow and the elevated number of samples, library preparation remains a time-consuming and resource-intensive process, leaving many laboratories at increased risk of human error.

In this webinar, Dr. Dario Cocciadiferro, molecular geneticist at the Ospedale Pediatrico Bambin Gesù in Rome, will present how his laboratory has reduced sample-to-sample variability by adopting an automated NGS library preparation workflow. In particular, he will describe:

• The process leading to the automation of the Nephropathies Solution (NES) by Sophia Genetics on the PerkinElmer Sciclone G3 NGS workstation
• The analytical performance of the automated workflow versus the manual one
• The application of the automated NES in resolving a complex clinical case  

This webinar discusses background and clinical genomics of NTRK fusion detection in cancer. NTRK fusions are the focus of new therapeutic options, but clonal and subclonal lesions are notoriously difficult to detect. This webinar provides an overview and background about the increased role of these fusions, and latest trends in diagnosis, prognosis, and treatment, as well as a research case study on detection.

Join Dr. Alanna Church of the Laboratory for Molecular Pediatric Pathology and Staff Pathologist at Boston Children's Hospital to learn more about the increasing role of NTRK fusions:

•  Overview and background of fusion mutations, specifically NTRK 1, 2, and 3
•  Frequency overview and specificity needed for detection
•  Overview of research case of utilizing NGS technology in detection.

Ribosomal ribonucleic acid (rRNA) accounts for up to 99 percent of the total RNA depending on the cell type. Therefore, it’s critical to deplete this highly abundant RNA prior to doing RNA-seq experiments to maximize coverage of target RNA and improve sequencing economy. There are different commercial bead-based rRNA depletion or polyA enrichment kits. However, both methods are inefficient and introduce 3’ biases.  In addition, they are limited to only certain species.

This webinar discusses a species-specific rRNA depletion method that uses the Kapa RNA HyperPrep Kit with RiboErase in combination with customized oligonucleotides. The method enables enrichment of sequencing reads on low-abundance transcripts. In addition to lowering cost by sequencing target RNA, this depletion method generates a more comprehensive transcriptome that retains precursor mRNAs and non-coding RNAs.

Join this webinar to learn:

• How to generate species-specific rRNA probes for optimal rRNA depletion
• How to decrease the cost of RNA-seq by enriching for only the RNA that matters
• How to generate more comprehensive transcriptome data
• How to generate RNA-seq data from degraded RNA

This webinar will provide a first-hand look at how a hematology/oncology lab in the UK set up and validated three molecular assays for routine in-house use.

Speakers from the Royal Sussex County Hospital (RSCH) laboratory, operated under the Frontier Pathology NHS Partnership, will share their experience implementing two assays for suspected BCR-ABL1-negative myeloproliferative neoplasms.

The RSCH lab has spent the last several years repatriating historical send-away hemato-oncology assays for JAK2 V617F and CALR exon 9. During this webinar, RSCH scientists Munyoro Guvamatanga, Anna Tarasewicz, and Rebecca Lough will share their experiences bringing these assays in-house.

The JAK2 V617F mutation assay was the first to be repatriated in 2015 and is performed using the CE-IVD marked ipsogen JAK2 RGQ PCR kit. More recently, the lab began detecting CALR exon 9 mutations using the CE-IVD marked ipsogen CALR RGQ PCR kit. The assays are performed using gDNA extracted from whole blood samples and subsequent real-time qPCR on the QIAGEN Rotor Gene Q MDx 5Plex HRM platform.

This webinar will describe the experiences and challenges associated with the setup and validation/verification of the assays in the RSCH laboratory.

This webinar will discusses a comprehensive end-to-end workflow for soil metagenomic shotgun sequencing that offers an unbiased alternative to amplicon-based approaches to assess the composition of culture-free microbial communities and predict functional profiles. 

The soil microbiome represents a highly diverse and complex microbial community that contributes to many aspects of human, animal and environmental health. Due to the biodiversity of soil microbial communities and the presence of various PCR and library preparation inhibitors, such as humic substances, unbiased extraction of high-quality DNA for NGS has been challenging for soil metagenomic studies.

This webinar focuses on the following topics:

• Utility of shotgun sequencing using culture-free soil samples
• Validated methodologies for gDNA extraction, library preparation, and sequencing
• User-friendly analytical pipeline for taxonomic classification, alpha-diversity measurements, hierarchical clustering, and functional potential