Norovirus is a highly contagious virus and stands as the primary cause of acute gastroenteritis leading to vomiting and diarrhea across all age groups in the United States. Outbreaks of norovirus are especially common during the winter months and, in certain instances, can result in severe illness. This webinar provides an in-depth exploration of the latest insights on norovirus, covering both its clinical and molecular epidemiology. We will examine effective strategies for managing norovirus outbreaks to halt transmission, delve into current treatment options, and discuss candidate vaccines under development. Additionally, the webinar will highlight the importance of diagnostic tests for the swift and precise detection of norovirus infections. We will also identify key challenges that persist in enhancing the control of norovirus-related illnesses.

Comprehending the mechanism behind human diseases with an established heritable component represents the forefront of personalized medicine. Nevertheless, numerous medically important genes are inaccurately represented in short-read sequencing data analysis due to their complexity and repetitiveness or the so-called ‘dark regions’ of the human genome. The advent of PacBio as a long-read platform has provided new insights, yet HiFi whole-genome sequencing (WGS) cost remains frequently prohibitive. We introduce a targeted sequencing and analysis framework, Twist Alliance Dark Genes Panel (TADGP), designed to offer phased variants across 389 medically important yet complex autosomal genes. We highlight TADGP accuracy across eleven control samples and compare it to WGS. This demonstrates that TADGP achieves variant calling accuracy comparable to HiFi-WGS data, but at a fraction of the cost. Thus, enabling scalability and broad applicability for studying rare diseases or complementing previously sequenced samples to gain insights into these complex genes.

TADGP revealed several candidate variants across all cases and provided insight into LPA diversity when tested on samples from rare disease and cardiovascular disease cohorts. In both cohorts, we identified novel variants affecting individual disease-associated genes (e.g., IKZF1, KCNE1). Nevertheless, the annotation of the variants across these 389 medically important genes remains challenging due to their underrepresentation in ClinVar and gnomAD. Consequently, we also offer an annotation resource to enhance the evaluation and prioritization of these variants.

Overall, we can demonstrate that TADGP offers a cost-efficient and scalable approach to routinely assess the dark regions of the human genome with clinical relevance.

Learning Objectives:

1. Review the intricacies of medical complex genes, including the factors that contribute to their complexity.

2. Evaluate the advantages and limitations of sequencing methods and technologies in studying these genes.

3. Summarize the latest methods and algorithms utilized to tackle the challenges of analyzing complex genes, focusing on state-of-the-art approaches in the field.

Join this year's poster presenters in the Poster Hall during the Poster Discussion, Wednesday, May 15th, from 10:00 –11:00 AM PDT, to chat live about their posters and latest research and findings.

Nucleic acid agarose gel electrophoresis is a fundamental technique in molecular biology, boasting a rich history of advancements and innovations spanning over half a century. This technique plays a crucial role in various workflows, including basic analysis, sequencing library preparation, and fragment purification. Nevertheless, the wide range of applications for nucleic acid separation brings with it the risk of errors, mistakes, and mishaps that have the potential to diminish the quality of the ultimate outcomes. Join our seminar as we delve into the most common causes of poor outcomes and unveil innovative solutions to enhance your electrophoresis workflow.

Women experience a variety of unique sexual health issues that are often under appreciated by the general public and even by healthcare providers. Compared to other populations, cisgender women are disproportionately impacted by sexually transmitted infections. Due to their anatomy and potential for pregnancy, the impacts of such infections can also have devastating impacts, especially if they go undiagnosed and untreated. Vaginal infections such as bacterial vaginosis and trichomoniasis can not only lead to unpleasant symptoms such as vaginal discharge, odor, and irritation, but also have been associated with increased risk of HIV acquisition and adverse birth outcomes. Vulvovaginal candidiasis, which not linked to these specific outcomes, is extremely common and can negatively impact the quality of life of the women who experience it.

Research plays a crucial role in advancing our understanding of vaginal health. By conducting thorough research and utilizing specialized tests, scientists can investigate various aspects of vaginal health, such as the presence of specific pathogens, imbalances in the vaginal microbiota, or the effectiveness of certain treatments. This research helps in developing evidence-based guidelines, improving diagnostic accuracy, and ultimately enhancing the overall management and care of vaginal health conditions.

In this talk, we will discuss the epidemiology and clinical features of the three most common vaginal infections faced by women. Two of these are thought to be sexually transmitted or sexually associated (BV and trichomoniasis). These three clinical entities overlap in many ways in their presenting signs, symptoms and diagnostic findings, so we will discuss an approach to ascertaining the correct clinical diagnosis using a combination of physical exam, point of care testing, and laboratory diagnostics that are currently on the market.

Learning Objectives:

1. Distinguish between the clinical features of common causes of infectious vaginitis (e.g., bacterial vaginosis, trichomoniasis, vulvovaginal candidiasis).

2. Evaluate a patient presenting with vaginal symptoms through physical exam, point-of-care tests and laboratory assessments.

3. Review the molecular diagnostics that are currently available for the evaluation of vaginal symptoms.

Oligonucleotide therapeutics have emerged as a promising novel class of drugs to treat a wide range of diseases. The development of these therapeutics relies on the proper use of chemical building blocks called phosphoramidites to generate high‑quality oligonucleotides. This webinar discusses techniques for phosphoramidite synthesis, selection, and evaluation for the development of oligonucleotide drugs.

Learning Objectives: 

1. Identify phosphoramidites for oligonucleotide therapeutic development and manufacturing.

2. Review phosphoramidite impurities and their potential impacts on oligonucleotide therapeutics.

Laboratories use the same laboratory equipment they invested in for COVID testing to perform PGx testing. With COVID testing reimbursement dropping, many laboratorians are considering implementing PGx testing. PGx test panel design and test utilization that align with payers’ medical necessity definitions are key to pharmacogenomics laboratories’ financial viability and sustainability. Payers currently recognize some clinical pharmacogenomic (PGx) testing has sufficient clinical utility evidence to justify their coverage and reimbursement for their patient populations and as such have existing coverage and reimbursement and billing and coding guidelines. For the purposes of this webinar, Dr. Winslow will focus on laboratories’ optimizing PGx test panel design and utilization based on payers’ existing coverage and reimbursement guidelines for pharmacogenetic associations that are related to drug metabolizing enzyme gene variants, drug transporter gene variants, and gene variants that predispose a patient to certain adverse events and drug efficacy.

Learning Objectives:

1. Review educated financial decisions when considering implementing clinical PGx testing in the laboratory.

2. Differentiate between implementing a clinical PGx test for which CPT codes and payers’ policies exist and implementing one for which CPT codes and payer policies do not yet exist in terms of time from test implementation to reimbursement.

3. Describe how to optimize PGx test panel design and utilization using payers’ existing coverage and reimbursement guidelines to positively impact the PGx laboratory’s profits and losses.

The personalized treatment of each cancer patient with targeted therapies selected based on our understanding of the molecular biology of cancer has been the long-standing goal of precision oncology. The Human Project, completed 20 years ago, provided the blueprint for the following cancer genome projects. Today, we can identify the genetic (driver) alteration in 95% of cancer cases based on whole genome sequencing (WGS), Pan-Cancer Analysis of Whole Genomes (PCAWG) Nature 578, 82–93 (2020). According to this study, each cancer harbors an average combination of four to five genetic driver alterations out of thousands of possible mutations of hundreds of cancer driver genes. The early successes of personalizing treatment decisions based on matching one genetic alteration as a predictive biomarker to one targeted therapy are not reproducible in most patients. To solve this problem, we have developed a computational (AI) reasoning method to select N-of-1 treatment options based on the totality of molecular information available for each case instead of providing information about the actionability of genetic alterations one by one.

Learning Objectives: 

1. Review the concept of precision oncology.

2. Explain the dimensionality problem of precision oncology. 

3. Summarize the use of different types of AI in precision oncology.

RNA is dynamic and essential to biological functions. Metatransrciptome captures gene expression (RNAs) of all active microbes in an environment. We care not just 'who is there', but also 'what they are doing'. By sequencing the metatranscriptome, we can decipher human-microbiome interactions for the prevention, early diagnosis, and treatment of chronic diseases.

This presentation will cover how an at-home non-invasive saliva based test leverages metatranscriptomic profiling for health assessment. Microbial functional pathways in the oral cavity are quantified as eight scores from saliva metatranscriptome. These scores are shown to be significantly worse in individuals with periodontal disease (gingivitis), acid reflux, and nicotine addiction, compared with controls.

Learning Objectives: 

1. Explain metatranscriptome is effective to measure both microbes and their active functions.

2. Discuss oral microbial functional pathways using saliva metatranscriptome data.

3. Demonstrate that the pathway scores are significantly worse in individuals with gingivitis and other conditions.