Rapid Clinical Genomics:
Testing Options for the Critically-ill Patient
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Jane Juusola, PhD, FACMG Director, Clinical Genomics, GeneDx |
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The Power of the Trio, Part 2: MyGeneTeam Genetic Counseling Support for the Trio Process
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Monique LaPointe, MS, CGC Certified Genetic Counselor, MyGeneTeam |
MyGeneTeam enables healthcare providers to incorporate comprehensive genetic counseling services into their practice. In the first webinar of this two part series, we discussed the top challenges of collecting trio samples. In this second webinar, we illustrate how MyGeneTeam genetic counselors assist in facilitating trio sample collection. A preferred partner of GeneDx, MyGeneTeam provides solutions for healthcare providers where access to genetic counseling services may be limited. We share how MyGeneTeam genetic counseling services can be incorporated seamlessly into a clinical practice and highlighting how these services can benefit healthcare providers, clinic staff, and patients.
The Power of the Trio, Part 1: Pediatric Genetic Testing
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Courtney Downtain Pickersgill, MS, LCGC Assistant Director, Neurogenetics, GeneDx |
Trio analysis that includes concurrent sequencing of both biological parents and the proband has become the preferred strategy for exome, genome, and exome-based panel testing. This webinar explores the advantages of trio analysis by reviewing data from a cohort of patients with neurodevelopmental disorders who underwent exome-based panel testing at GeneDx. We've demonstrated how a trio approach can affect diagnostic yield, variant classification, and identification of unique variants, all while saving time and reducing follow up testing.
Diagnostic Utility of Genomic Testing in Disorders of the Immune System
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Amber Begtrup, PhD, FACMG Assistant Director, Clinical Genomics, GeneDx |
Immune system disorders encompass a wide range of clinical features; increased susceptibility to infections, autoimmunity, and autoinflammatory disease. Genomics have led to the rapid discovery of over 400 genes now known to cause inborn errors of immunity. In this webinar, we explore the outcomes of genomic testing for more than 2,500 individuals with features of immune dysregulation to gain insight into factors that contribute to positive outcomes and uncover emerging disease gene relationships.
The Genetic Autopsy: Enhancing Sudden Cardiac Death (SCD) Investigations
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Tara Hart, MS, CGC Assistant Director, Postgraduate Education and Lead Genetic Counselor, Cardiogenetics, GeneDx |
Heart disease is the leading cause of death in the United States. This webinar reviews hereditary cardiac disorders that can result in sudden cardiac death, indications for postmortem genetic testing, and collection of proper specimen types. Cases are presented to illustrate important principles related to molecular autopsy.
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Anita Shanmugham, MS, LCGC, MPH Senior Genetic Counselor, Neurogenetics, GeneDx |
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Dana Stolar, MS, CGC Senior Genetic Counselor, Neurogenetics, GeneDx |
This webinar provides a brief review of recent literature and an overview of genetic testing options for individuals with autism and intellectual disability. We discuss the utility of a large multi-gene test analyzed using exome capture. Additionally, we review outcomes from a cohort of patients who had a combination of genetic testing including an exome-based multi-gene panel, chromosomal microarray, and Fragile X testing to highlight the benefits of exome and exome-based testing as first tier tests for autism and intellectual disability.
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Patricia Celestino Soper, PhD, FACMG Assistant Director, Rare Disorders, GeneDx |
Chronic Kidney Disease affects approximately 1 in 10 people worldwide, and nearly 25% of affected patients report familial recurrence. This webinar discusses hereditary kidney disorders, genetic testing and reviews GeneDx results from nearly 300 polycystic kidney disease tests. We present cases to illustrate uncommon molecular diagnoses.
Rapid Clinical Genomics:
Testing Options for the Critically-ill Patient
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Jane Juusola, PhD, FACMG Director, Clinical Genomics, GeneDx |
Rapid exome and genome sequencing provide a quicker turnaround when timing is critical to possibly direct or alter medical management, such as for NICU and PICU patients. This webinar discusses GeneDx’s experience with exome sequencing over 200,000 samples with a focus on outcomes from our rapid exome sequencing options.
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Francisca Millan Zamora, MD, FACMG Associate Director, Neurogenetics, GeneDx |
The cause of cerebral palsy (CP) has historically been attributed to complications of the prenatal course and birth; particularly with birth asphyxia. However, emerging evidence suggests that a proportion of CP has a genetic etiology. This webinar reviews recent literature supporting the use of genetic testing in patients with CP, highlights results of exome sequencing for a cohort of individuals with CP, considers the implications of establishing a genetic diagnosis and discusses recurrence risk for families.
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Jane Pine Wood, Esq. OPKO Health Chief Legal Counsel of BioReference Laboratories |
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Stephanie DeWard, MS, CGC Lead Genetic Counselor, Clinical Genomics, GeneDx |
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Rachel T. Klein, MS, LCGC OPKO Health Managing Director of MyGeneTeam |
This webinar focuses on describing legal and compliance considerations with billing and genetic test ordering. We also identify and discuss clinical scenarios that present legal and ethical challenges from a HIPAA and compliance perspective.
Xpanded HereditaryCancer:
The Next Phase of Cancer Genetic Testing
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Kristen Vogel Postula MS, CGC Assistant Director, Inherited Cancer Operations, GeneDx |
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Lauren Yackowski MS, CGC Assistant Director, Inherited Cancer Reporting, GeneDx |
Xpanded HereditaryCancer combines the flexibility of exome technology with an extensive set of genes to bridge the gap between standard next-generation sequencing (NGS) panels and exome sequencing (ES).This presentation reviews the curation process used to develop the gene list and summarizes the unique approach to analysis and reporting. We discuss when to consider ordering and which patients may benefit from Xpanded HereditaryCancer.
Outcome and Options:
Factors Influencing Epilepsy Genetic Testing Results and Follow-up Testing
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Elizabeth Butler MS, CGC Director, Genetic Counseling Services, GeneDx |
This talk provides an overview of available genetic tests for epilepsy and discusses testing options following a non-diagnostic clinical epilepsy gene panel. The factors that affect the outcome of epilepsy genetic testing are reviewed, including the impact of age-of-onset, seizure type, associated phenotypes and trio-based testing including parental samples. Case examples of individuals who had a trio-based epilepsy panel are used to highlight the types of patients most likely to benefit from epilepsy genetic testing.
Detecting the Undetectable:
Identification of SMN1-related SMA by Exome Analysis
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Amanda Lindy PhD, FACMG Director, Neurogenetics, GeneDx |
This talk focuses on the identification of SMN1-related Spinal Muscular Atrophy via exome sequencing; reviewing the basic mechanisms of SMN1 defects, how we can detect them by NGS and why screening for this disorder by exome sequencing is beneficial. A cohort of individuals identified by exome sequencing is used to highlight the impact this diagnosis has on medical management and genotype-phenotype correlations of individuals with atypical disease presentation.
Working From Home: The New Normal
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Darnelle L. Dorsainville MS, CGC Program Manager, Cardiogenetic Testing, GeneDx |
Are you transitioning or planning to transition your practice to telehealth? Are you looking for guidance on how to get started or tips to improve the experience for both you and your patients? This webinar discusses how to set up your home office, maintain HIPAA compliance and maximize patient satisfaction. Additionally, learn how GeneDx is able to support telemedicine so you can continue ordering necessary genetic testing through this pandemic, ensuring your patients receive the best care now and into the future.
