Product Theater Listing
Product Theater presentations are 30-minute pre-recorded presentations by sponsoring companies. These sessions showcase the companies’ recent developments and applications of their products, techniques, and/or services, and they demonstrate how the products or services are used in practical and/or clinical settings.
These presentations are not planned by the Program Committee and are not approved for CME or CEUs. These session recordings are available to watch on demand in the virtual platform.
Recognizing the Clinical Consequences of Low ALP, Diagnosing Hypophosphatasia (HPP)
Dr. Eric Rush, MD, FAAP, FACMG, University of Kansas Medical Center (KUMC)
Low alkaline phosphatase may reveal a connection among perplexing symptoms: Hypophosphatasia (HPP). Review the resources [below/in my booth] to learn more about the patient types to consider evaluating for HPP.
Q&A - Leading in Variant Assessment: The Future is Now
Tina Pesaran, MA, MS, CGC, Director, Variant Assessment
Marcy Richardson, PhD, Supervisor, Variant Assessment
Moderator: Jessica Profato, MS, CGC, Sr. Manager, Product Management
When it comes to variant assessment, it takes more than just one method, automated technology or testing approach to deliver accurate and actionable genetic results to patients. To advance the field of genetic testing, the future of variant assessment and classification requires an all-hands, multi-method approach, and leadership to face the challenges head-on. Join us for a Q&A session with a genetic counselor and variant scientists who will discuss important considerations for driving the continued progression of quality in variant assessment including:
-Specialized studies, such as targeted RNA analysis of splicing variants and concurrent RNA/DNA analysis
-Human expertise and AI – leveraging the best of both
-Partnering across industry and guideline associations worldwide to engage international variant experts, collaborators, and clinicians to enhance understanding of variants
-Access to studies that produce novel evidence to provide more clarity in testing results - leading efforts to better classify variants identified across varied ethnic populations
Galactosemia: An Update for Healthcare Professionals
Riccardo Perfetti, MD, PhD, Applied Therapeutics
Francesca Lawson, MD, FAHA, Applied Therapeutics
Galactosemia is a rare hereditary disease caused by enzyme deficiencies in the Le Loir pathway, which result in an inability to metabolize the simple sugar galactose. Galactosemia results in long-term complications, including cognitive and intellectual deficiencies, developmental delays, behavioral issues and speech and fine motor problems. Galactose is found in foods, but is also produced endogenously by the body, so dietary restriction of galactose is not sufficient to prevent long-term complications. This program will discuss the manifestations of disease and review recent evidence demonstrating that Galactosemia is a progressive disease, significantly worsening over time. The program will also review current knowledge on disease pathogenesis and potential options for monitoring disease and assessing severity. Suggested attendees: physicians (medical geneticists, pediatricians), nutritionists, nurses, other patient support staff
Real-World Adult PKU Patient Cases: Treatment and Clinical Management
Hope Northrup, MD, FACMG, University of Texas Health Science Center at Houston
During this session, Dr. Hope Northrup, Medical Geneticist, will share her experiences with PKU management. Her presentation will start with an overview of a treatment option for adults with PKU. A discussion will follow on unique patient case studies, including considerations taken to provide optimal treatment and clinical management.
Next-Generation Cytogenomic Characterization of Prenatal Cases by Optical Genome Mapping
Nikhil S. Sahajpal, PhD, Augusta University
Alex Hastie, PhD, Bionano Genomics
In this Spotlight Theater, Dr. Sahajpal will discuss the current landscape and gold-standards for prenatal testing as compared to Optical Genome Mapping and it’s potential to identify unique genomic abnormalities and 100% concordance with Karyotyping, FISH and Chromosomal Microarray. As he steps through their clinical validation of Optical Genome Mapping for the analysis of prenatal cases, you will see how this technology has the potential to replace current, standard diagnostic testing procedures using this single assay.
Emerging Opportunities in the Genetic Diagnostics for Hearing Loss And Deafness: A New Open Access Program and the Clinical Importance of Including mtDNA Analysis
Kim Gall, MSc, CGC, Blueprint Genetics
Jennifer Schleit, PhD, FACMG, Blueprint Genetics
The importance of an accurate molecular diagnosis is becoming increasingly essential when caring for individuals with hearing loss and deafness. Advances in genetic testing continues to improve our understanding of the genetic etiology of hearing loss evolves allowing for the development of novel targeted therapies. In this educational presentation, Kim Gall and Dr. Jennifer Schleit will discuss the clinical significance of including mitochondrial genome analysis in the molecular diagnostics of hearing loss, examine metrics to consider when choosing genetic testing, and share Blueprint Genetics’ experience sequencing individuals with hearing loss and deafness. The open access genetic testing program, Resonate, will also be introduced.
Revolutionizing Time-Sensitive Diagnostics for Young Patients
Prof. Peter Bauer, MD, CENTOGENE
Join Prof. Peter Bauer, Chief Genomic Officer at CENTOGENE, as he shares the clinical applications of Exome and Genome Sequencing for severe early-onset diseases in young patients. Listen in as he addresses diagnostic challenges in the NICU-PICU setting and proven practical methods to providing a precise diagnosis, while saving patients time and resources.
Interpret NGS Data Automatically to Provide Life-changing Answers for Rare Disease Patients with the Greatest Speed, Accuracy and Confidence
Helen Savage, DipRCPath, Congenica
Achieving a timely diagnosis has a huge impact on patients and their families; from providing answers to questions such as “why is my child different?”, to informing reproductive choice, providing access to support for patients, information about prognosis and early treatment leading to improved patient outcomes. However, the increased amount of time needed to familiarise analysts with novel genes and variants extends turnaround times and leads to delays in reporting times. With a finite workforce, laboratories could increasingly face a situation where lack of resources for analysis of complex cases can lead to an extended diagnostic odyssey for patients and their families. Automated processes are commonplace in the diagnostic laboratory; from liquid-handling robotics to automated bioinformatics pipelines processing large volumes of data. As unsupported manual interpretation is not a scalable solution, is it time to embrace automation of NGS data to accelerate analysis times and provide more life-changing answers for patients and their families than ever before. Here we present the case for automating standardized analysis of rare disease cases, to rapidly generate high quality, relevant results to support the diagnosis of patients, without compromising the diagnostic yield or quality of each analysis.
Are You Ready for Artificial Intelligence? A Qualitative Survey of Genomics Labs With Over 160 Months of Experiencing Using AI in Diagnostics and Discovery
Kristen Sund, PhD, MS, DABMG, CGC, Emedgene
In an era of big data, Al-driven solutions are increasingly necessary to streamline tertiary genomic analysis in clinical and research laboratories. To maximize workflow efficiency and increase accuracy, labs must effectively combine AI results with human insight in their Standard Operating Procedures (SOP). We surveyed labs that have implemented AI for a cumulative total of 160 months in order to highlight optimal application practices of AI tools.
Rapid identification of pathogenic structural variants in whole genome sequence data from 60+ rare disease cases – Fully integrated into an industry leading AI clinical decision support system, Fabric Enterprise
Jeanette McCarthy, MPH, PhD, Sr. Director, Scientific Programs at Fabric Genomics
For patients with rare genetic diseases, the analysis of structural variants (SVs) in addition to smaller indels and single nucleotide variants (SNVs) can improve the diagnostic yield by ~15%. SV calling from whole genome sequence (WGS) data yields on average 16 SVs per case using a specialized SV calling pipeline in clinical use at Rady’s Children Hospital, of varying sizes and gene composition. In a standard diagnostic workflow, a considerable amount of time is spent clinically evaluating each of these SVs for pathogenicity in addition to the SNVs. Gene ranking algorithms provide an efficient strategy for quickly identifying causal candidate genes with SNVs, but to date they have not considered SVs. Fabric GEM is Fabric Genomics’ latest AI gene prioritization algorithm that analyzes not only SNVs but SVs as well, in a single step for rapid identification of causal variants for rare genetic diseases. Here we present the performance of Fabric GEM in over 60 rare whole genome disease cases, provided by our collaborators from the Rady’s Children Hospital. Fabric GEM provides AI-based identification of disease-causing variants and an integrated workflow for identifying and reporting on candidate diagnostic SNVS and SVs, improving the speed and diagnostic yield, and reducing the need for manual interpretation of SVs.
Cerebral Palsy: Genomic Advances Aid in Diagnosis and Management
Francisca Millan Zamora, MD, FACMG, GeneDx
Cerebral palsy (CP) has historically been attributed to complications of the prenatal course and birth; particularly with birth asphyxia. However, accumulating evidence suggests that a proportion of CP has a genetic etiology. This session will review recent literature supporting the use of genetic testing in patients with CP, highlight results of exome sequencing in a cohort of individuals with CP, and use clinical cases to illustrate the implications of establishing a genetic diagnosis and their relevance for recurrence risk assessment and clinical management.
Clinical Perspectives: Optimized Variant Interpretation with the Mastermind Genomic Search Engine
Andreas Laner, PhD, Head of Genomics, MG
Pippa Grainger, PhD, Technical Head of Diagnostic Genetics, LabPlus, Auckland District Health Board
Mark Kiel, MD, PhD, Co-founder and Chief Scientific Officer, Genomenon
Genomenon’s Mastermind Genomic Search Engine is recognized as a premier research tool within the genetic variant interpretation space. By identifying every genomic association within the existing literature, as well as drawing informative connections between them, Mastermind’s patented algorithm is able to reveal hidden information that could lead to a research discovery or solving a clinical case. As a result, it’s more than just a database - it’s a virtual colleague.
In this presentation, Dr. Pippa Grainger of Auckland Hospital and Dr. Andreas Laner of MGZ Medical Genetics Center will share real-world cases where use of the Mastermind Genomic Search Engine led to more informed diagnosis and treatment decisions. Armed with experience in hereditary cancer syndromes, genomic knowledge transfer, and diagnostic genetics, these speakers will describe how Mastermind is not only streamlining variant interpretation in their work, but also driving their shared mission to advance human health outcomes for rare genetic diseases and cancer.
You will learn:
-What challenges both geneticists and clinical decision makers are currently facing surrounding genetic variant interpretation, -How clinical practitioners are applying Mastermind in their work to streamline their workflow, and -How both genetic research and clinical diagnostics are impacted by Genomenon’s AI-driven solution.
Invitae exome interpretation: Leading with science and innovation to bring exomes to scale
Heather McLaughlin, PhD, FACMG Invitae
At Invitae, we understand that you always want the most accurate, up-to-date information about your patient’s exome—without extra work required on your part. Every six months (for a period of three years from the exome report date), Invitae now automatically runs an expert, case-level reanalysis of your patient’s exome.
How are we able to do this? Invitae recently integrated Moon, an intelligent software engine into our exome platform. Moon allows for more efficient, comprehensive, and personalized exome sequencing.
Recognize current challenges of clinical exome sequencing for rare genetic disorders.
Summarize how Invitae is addressing these challenges through its variant interpretation processes and its recent acquisition and integration of Diploid’s Moon and Apollo software.
Compare and contrast variant re-evaluation and case-level reanalysis definitions and processes.
Evolving Insights on the Genetics of COVID-19
Brian Krueger, PhD, Labcorp
Understanding the genetics of COVID-19 and its variants is an important aspect in the fight against the virus. This presentation will cover a brief review of our experience sequencing the virus, identifying variants, and working with key organizations to broaden the global knowledge base.
Reducing disparities and inequities in reproductive health via expanded carrier screening
Aishwarya Arjunan, MS, MPH, CGC, CPH
This session will describe how current practices and guidelines surrounding carrier screening contribute to disparities in care and practice and what we can do to work together to address these gaps in care.
Introducing Panaroma AI: SNP-based NIPT innovation with Artificial Intelligence
Sheetal Parmer, MS, CGC
Kimberly Martin, MD, FABMGG
Watch our product theater to learn how innovations with Artificial Intelligence (AI) are impacting SNP-based NIPT performance. As validated in the SMART study, the largest, prospective NIPT study with over 18,000 pregnancies with confirmatory testing, these AI innovations have significant impact on aneuploidy and 22q11.2 deletion detection, and test performance.
Clinical utility evaluation of a NGS based assay for the detection of genetic modifiers in families with reduced penetrance or uncertain copy number variants
Elizabeth McCready, PHD, FCCMG, McMaster University
During the presentation Dr. McCready will examine the utility of a next generation sequencing (NGS) panel, CytoSure® Constitutional NGS, to identify relevant variants in families with reduced penetrance or uncertain copy number variants (CNVs). Findings from this pilot cohort were compared to data from chromosome microarray analysis to evaluate feasibility of the NGS platform for copy number detection and its utility in identifying single nucleotide variants (SNVs) acting synergistically with CNVs to affect phenotype.
Defining a New Clinical Standard: Updates on Potential Applications of Genome Sequencing
Madhuri Hegde, PhD, FACMG, PerkinElmer Global Laboratory Services
Discussion surrounding the application of genome sequencing in clinic and how it compares to traditional testing modalities
The Clinical Utility of Genetic Testing in Autism Spectrum Disorder: When Findings Impact Care
Greg Fischer, PhD, PreventionGenetics
Autism spectrum disorder (ASD) encompasses several neurodevelopmental features presenting as varying degrees of social impairment, communication ability, and propensity for restricted interests and repetitive behaviors. In recent years, our understanding of the genetic components contributing to ASD has improved through the work of several large cohort studies. Through this work, an extensive list of gene candidates has been identified which has resulted in the development of large exome-based panels for testing of individuals with ASD and intellectual disability phenotypes. Some studies have also identified ASD with characteristic clinical features that result in a change in the patient’s clinical care. This webinar explores the current landscape of the genetics of ASD, the clinical utility of large gene panels in the molecular diagnosis of ASD, and presents examples of ‘actionable autism’ cases in which testing results in a change in clinical care.
A 25-month-old boy presenting with vomiting, dehydration, respiratory distress, and progressive lethargy: A Case Study
Nicola Longo,MD, PhD, FACMG, University of Utah School of Medicine
Ashley Andrews, MSN, CPNP, University of Utah School of Medicine
A review covering the diagnosis, treatment, and outcomes for a 25-month-old child who was hospitalized due to vomiting, dehydration, respiratory distress, and progressive lethargy presented by Nicola Longo, MD, PhD, Professor and Chief, Medical Genetics/Pediatrics, and Ashley Andrews, MSN, CPNP from the University of Utah School of Medicine. The case study provides additional information for clinicians who may encounter similar patients in their practices.
The Case for CERDELGA® (eliglustat) Capsules
Carlos Prada, MD, Cincinnati Children's Hospital Medical Center
Dr. Carlos Prada will provide information on the Cerdelga (eliglustat) indication, safety, and efficacy profile.
Sanofi Genzyme Rare Disease University (RDU) - ASMD Webinar
James Cobb, PhD, Sanofi Genzyme
Helen Butler, LINK Health Group
Melissa Wasserstein, MD, Children’s Hospital at Montefiore, Albert Einstein College of Medicine, NY
This on-demand session will provide an overview of the RDU, a high quality education and skills development platform for the Lysosomal Storage Disease healthcare professional community, with a focus on ASMD.
A Streamlined Workflow for CNVs Analysis on Whole-Exome Sequencing
Emily Paul, PhD, SOPHiA GENETICS
Clayton Morrison, Twist Bioscience
Over the last decade, whole-exome sequencing has emerged as a comprehensive and cost-effective tool for researching rare disease-causing variants, including copy number variants (CNVs). As a result, researchers can gain extensive, valuable information to manage complex mendelian disorder cases. However, efficient and precise analysis of CNVs remains challenging due to high levels of noise and biases, data heterogeneity and the “big data” nature of NGS data. Researchers require high-quality enrichment kits and data analytics they can trust. Providing an end-to-end solution, the Twist Human Comprehensive Exome powered by SOPHiA DDM platform streamlines your workflow for accurate analyses of exome data to detect multiple variants, including hard-to-identify CNVs at an exon-level resolution. Join us for an exclusive presentation from Director of Subject Matter Experts of the Americas at SOPHiA GENETICS, and Dr. Clayton Morrison, Field Applications Scientist at Twist Bioscience
Precision Medicine and the Application of -Omics for Lysosomal Storage Disorders
Walla Al-Hertani, MD, MSc, Genetics and Genomics, Boston Children’s Hospital
Precision medicine is an emerging approach for disease treatment and prevention that considers individual variability in genes, environment, and lifestyle for each person. As recent advances in omics are currently supplementing clinical decision making and personalization efforts, Dr. Al-Hertani will discuss the integration of precision medicine in rare diseases, such as lysosomal storage disorders, through a discussion of current data, supportive initiatives, and clinical cases.
Surprise Diagnoses - Whole Genome Sequencing Uncovers the Unexpected
Christine Stanly, PhD, FACMG, Variantyx
Rare disease patients often present with a complex array of clinical symptoms, making it difficult to identify the best test or series of tests to order. Testing based on whole genome sequencing (WGS) methodology covers a broader range of variant types than other NGS methods, making it ideally suited for unraveling the complexities of rare disease cases. In this talk we will present a series of case studies where WGS-based testing uniquely identified causal variants for two underlying genetic disorders and other unexpected findings, supporting the need for unbiased testing to identify causal genetic variants.