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Monique LaPointe, MS, CGC
Certified Genetic Counselor, MyGeneTeam

Date: Wednesday, March 24th

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Time: 2PM EST (11AM PST)




The Power of the Trio, Part 1: Pediatric Genetic Testing

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.


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Courtney Downtain Pickersgill, MS, LCGC
Assistant Director,  Neurogenetics, GeneDx




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Amber Begtrup, PhD, FACMG
Assistant Director, Clinical Genomics, GeneDx

Diagnostic Utility of Genomic Testing in Disorders of the Immune System

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.


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Tara Hart, MS, CGC
Assistant Director, Postgraduate Education and Lead Genetic Counselor, Cardiogenetics, GeneDx

The Genetic Autopsy: Enhancing Sudden Cardiac Death (SCD) Investigations

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


Emerging Genetic Testing Strategies & Outcomes for Individuals with Autism & Intellectual Disability

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


Keeping it Re(n)al: a Review of Molecular Diagnostic Testing for Cystic Kidney Disease

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.



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Jane Juusola,  PhD, FACMG
Director, Clinical Genomics, GeneDx

Rapid Clinical Genomics: Testing Options for the Critically-ill Patient

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


Cerebral Palsy: The Expanding Role of Genomics in Diagnosis and Management

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

How to Avoid Legal and Ethical Pitfalls as a Genetic Counselor

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.


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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: The Next Phase of Cancer Genetic Testing

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.


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Elizabeth Butler MS, CGC
Director, Genetic Counseling Services, GeneDx

Outcome and Options: Factors Influencing Epilepsy Genetic Testing Results and Follow-up Testing

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.


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Amanda Lindy PhD, FACMG
Director, Neurogenetics, GeneDx

Detecting the Undetectable: Identification of SMN1-related SMA by Exome Analysis

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.


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Darnelle L. Dorsainville MS, CGC
Program Manager, Cardiogenetic Testing, GeneDx

Working From Home: Is This the New Normal?

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.