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Genome Webinar

Research Technician, Jan Ellenberg Lab, European Molecular Biology Laboratory

Research Technician,  Jan Ellenberg Lab, European Molecular Biology Laboratory

Fluorescent proteins or self-labeling tags are invaluable tools for studying protein dynamics in living cells using fluorescence microscopy. However, quantitative imaging requires physiological levels of expression of the target protein of interest (POI), especially when stoichiometric interactions of the POI need to be investigated.

CRISPR has enabled researchers to tag virtually any target gene of interest, resulting in physiological levels of expression of the corresponding POI. However, the generation and selection of cellular clones bearing the correct edit — that is, the expected number of tagged alleles and an absence of extra integrations — requires quantitative assessment of the tag copy number.

This webinar will describe the use of dPCR as a quick method for quantitation of green fluorescent protein copy number in CRISPR-edited HeLa cells. The discussion will also include an introduction to dPCR working principles and post-acquisition data analysis methods.

November 07, 2019
Sponsored by
Beckman Coulter

Maximizing Productivity in Urinary Tract Infection Testing

Genome Webinar

This webinar will discuss strategies for urinary tract infection (UTI) testing with the focus of detecting avoidable urine cultures.

UTIs are the most common infection leading to an antibiotic prescription after a physician’s visit. The appropriate use of antibiotics for patients that are correctly diagnosed with UTI will foster antimicrobial stewardship. The excessive use of antibiotics is one of the contributing factors to antibiotic-resistant bacteria, which have become a global public health concern.

Microbiology laboratories urgently need rapid screening methods for the detection of bacteria in urine samples, since several clinical studies have indicated that about two-thirds of these samples will not yield any bacteria or will yield insignificant growth when cultured.

Join Dr. Ranjana Hawaldar of Sampurna Sodani Diagnostic Clinic to:

  • Discuss how UTIs impact healthcare settings and laboratory workloads
  • Review current alternatives for UTI testing
  • Assess the relevant factors associated with urine culture candidate screening
  • Propose strategies to introduce a urine culture candidate screening process in the laboratory to avoid unnecessary urine cultures

P.A.C.E. credit is available for your participation.*

*Beckman Coulter Inc. is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E.® Program. These credits are recognized by the State of California. Most programs also provide State of Florida credits (with valid license number). At this time, we cannot issue continuing education credits for those who provide healthcare (or work for an institution that provides healthcare) in Massachusetts or Vermont.

Sponsored by
Genome Webinar

This webinar tells the story of Versiti's journey in transforming genetic testing from a manual to a digitized process. It includes detail on how the organization succeeded, pain points along the way, a novel approach to variant assessment, and future plans for the program.

Versiti (formerly Blood Center of Wisconsin) specializes in a wide range of services, including esoteric diagnostic testing, such as immunology, hematology, oncology, and serology.

In this session, Dr. Valerie Trapp-Stamborski covers:

  • Bringing genetic testing onto a technical platform for improved efficiency, analysis, and reporting.
  • The anatomy of a novel variant assessment tool that is used to classify and assess variants of uncertain significance.
  • The organization's efforts around integrated reporting for improved diagnostic insights.
Genome Webinar

Lead Scientist,
University of Arizona Genetics Core for Clinical Services

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.

Genome Webinar

Pathology Department and Cancer Research Division,
Peter MacCallum Cancer Centre, Melbourne, Australia

This webinar will provide an overview of how a pathology laboratory validated a 77-gene next-generation sequencing-based liquid biopsy assay.

Liquid biopsy provides a minimally invasive alternative to tissue biopsy for diagnosis, treatment selection, and monitoring of solid cancers. Liquid biopsy, especially the detection of molecular biomarkers from circulating tumor DNA (ctDNA), has evolved from single biomarker to multi-biomarker measurement with the application of NGS technologies, an advance that promises to improve clinical sensitivity — particularly for the detection of disease relapse and treatment resistance.

To date, the ctDNA-NGS space has been dominated by well resourced commercial providers offering accredited services based on laboratory developed tests. This webinar will describe how the Pathology Department at Australia's Peter MacCallum Cancer Centre is looking to bring this capability in house. Peter Mac's Andrew Fellowes will describe the analytical performance of the Avenio ctDNA Expanded Kit* in a cancer hospital pathology laboratory.

The Avenio ctDNA Expanded Kit* is a commercially available research use only kit based on Cancer Personalized Profiling by Deep Sequencing (CAPP-Seq) that promises to accelerate the uptake of liquid biopsy for clinical research of solid cancers in the clinical laboratory setting.

*For Research Use only, not for use in diagnostic procedures.

Genome Webinar

Postdoctoral Researcher,
Max Delbrück Center for Molecular Medicine 

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.

Genome Webinar

This webinar discusses a next-generation sequencing approach for detecting genomic mutations in hematologic maglignancies.

Join Dr. Andrea Ferreira-Gonzalez, Professor of Pathology and Chair of Molecular Diagnostics Division at Virginia Commonwealth University Health System, to learn about the role of genomic testing in hematology.

Dr. Ferreira-Gonzalez introduces the different hematological disease states, their biology, and driver mutations. She provides an overview and background about the role these mutations play in blood cancers and the steps taken for the validation and implementation of a clinical assay for hematological malignancies using RNA and DNA as detection methods for NGS.

Sponsored by
July 31, 2019
Sponsored by
Thermo Fisher Scientific

Considerations and Impact of Implementing Targeted NGS in Myeloid Malignancies

Genome Webinar

Head, Division of Genetics Department of Lab Medicine and Pathology,
Saint John Regional Hospital

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
Sponsored by
Genome Webinar

Professor Genetics KU Leuven, Group Leader VIB, Leuven, Belgium

Postdoctoral Researcher, VIB-KU Leuven, Belgium

This webinar outlines a project that performs large-scale and integrative single-cell genome and transcriptome profiling of pediatric acute lymphoblastic leukemia (ALL) cases at diagnosis, during drug treatment, and in case of relapse.

ALL is the most common cancer in children and shows extensive genetic intra-tumoral heterogeneity. This heterogeneity may be the underlying reason for an incomplete response to treatment and for the development of relapse.

Data from this study provides information about the sensitivity of each leukemia clone to therapy and about how relapse can develop. Moreover, the results point toward the feasibility to detect minor clinically relevant leukemia clones at diagnosis or during early days of treatment in ALL.

The main focus of this webinar is:

  • Introduction of the Tapestri Platform from Mission Bio for targeted single-cell DNA sequencing
  • Presentation of a novel custom panel covering the 300 most mutated genomic regions in ALL
  • Insights into the clonal architecture of pediatric T-ALL, lessons learned from the first 16 samples processed with this custom ALL panel
Sponsored by
Genome Webinar

Director of Fetal Medicine,
Harris Birthright Research Center for Fetal Medicine,
King's College Hospital

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.

Genome Webinar
Dr. Yaolin Zhou discusses Quality Improvement Model to Support Molecular Testing of Oncology Patients

Director of Molecular Pathology,
University of Oklahoma Health Sciences Center (OUHSC)

This webinar discusses how the Molecular Pathology Laboratory at the University of Oklahoma (OUMP) is using a new quality improvement model to support molecular testing of oncology patients. 

The oncology landscape is rapidly evolving due to new biomarker discoveries and targeted treatments. Biomarker testing is ideally performed in on-site molecular diagnostic laboratories to facilitate local communication and promote multidisciplinary collaboration.

However, assay implementation and incorporation is complex and full of potential pitfalls. Due to the costs and challenges associated with offering new molecular tests, labs need to take additional steps to ensure that the healthcare provided is effective, efficient, patient-centered, safe, and timely.

In this webinar, OUMP's Yaolin Zhou discusses how her lab approaches molecular testing as a quality improvement initiative. She presents the EPIDEM model of quality improvement, which stands for Exploration, Promotion, Implementation, Documentation, Evaluation, and Modification.

Dr. Zhou reviews specific applications of the EPIDEM model to improve molecular testing of leukemia, breast cancer, and melanoma patients and will also share OUMP’s approach to next generation sequencing using Qiagen's GeneReader NGS System.

Sponsored by
Genome Webinar

Senior Healthcare Consultant,
ARUP Laboratories

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.
Sponsored by
Genome Webinar

Associate Professor, Pathology & Immunology; Section Head, Hematopathology;
Washington University School of Medicine in St. Louis

Global Product Manager, Genomics and Diagnostics Group,
Agilent Technologies

This webinar focuses on measurable residual disease (MRD) monitoring in post allogeneic hematopoietic cell transplantation (alloHCT) myelodysplastic syndrome (MDS) cases. 

Standard sequencing-based technologies have a limited ability to detect low-abundance mutations due to the inherit error rate of the sequencing technology and pre-analytic errors associated with PCR amplification and sequencing library construction. This approach is generally limited to the detection of mutations with variant allele frequencies (VAFs) of greater than 2.5 percent. 

Our speaker, Eric Duncavage, discusses an approach his team used to address this issue, which used HaloPlex HS error-corrected sequencing coupled with high-coverage depths that allowed them to detect VAFs as low as 0.03%, or one tumor cell in ~1,600 cells. 

Dr. Duncavage’s team applied HaloPlex HS to bone marrows collected prior to and 30 days after transplant in 86 MDS patients by targeting previously identified somatic mutations. They found that 32 of 86 cases (37 percent) had at least one mutation at day 30 post-alloHCT with a maximum mutation VAF greater than 0.5 percent (equivalent to 1 mutant cell in 100 cells).

Dr. Duncavage details the study, which found that cases who progressed had a higher maximum mutation VAF 30 days after transplant compared to those who did not. Multivariate analysis confirmed that the detection of a mutation with a VAF greater than 0.5 percent 30 days after alloHCT was associated with an increased risk of progression and decreased progression-free survival. 

For Research Use Only. Not for use in diagnostic procedures.

Genome Webinar

Molecular Geneticist,
Medical Genetics Laboratory of Ospedale Pediatrico Bambin Gesù

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  
Sponsored by
Genome Webinar

Chief Scientific Officer, TOMA Advanced Biomedical Assays, Impact Lab Group  

This webinar discusses cell-free DNA prenatal screening in the era of genome-wide sequencing and factors influencing the clinical utility of expanded noninvasive prenatal testing (NIPT) menus.

NIPT by cell-free DNA analysis is recognized as the most effective method of prenatal screening for trisomies 21, 18 and 13, but the clinical utility of NIPT for rare and uncharacterized genomic imbalances is largely unknown. In order to understand how expanding uses of this technology may impact clinical care, laboratories and clinicians must understand what type of results to expect and the biological and technical factors that may influence the accuracy of these results.

In this webinar, Dr. Francesca Romana Grati of TOMA Advanced Biomedical Assays reviews the current state of NIPT technologies as well as their expanding applications into rare and uncharacterized genomic disorders.

Dr. Grati discusses:

  • Currently available NIPT technologies
  • Differences in genome-wide and targeted NIPT
  • Biological and technical factors that influence the accuracy of NIPT results
  • The clinical impact of screening for rare and uncharacterized genomic imbalances with NIPT

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