Sponsored Breakfast Symposia | 7:45 am - 8:30 am
A Deeper Look Into Achondroplasia
This BioMarin educational program, led by a clinical expert in achondroplasia, will answer questions including:
- The underlying cause of impaired bone growth
- How impaired bone growth could lead to multi-systemic complications throughout life
- Healthcare specialists involved in monitoring and caring for individuals with achondroplasia
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Pioneering Approaches to Diagnosing and Treating Rare Diseases
As rare diseases often pose significant challenges due to their complexity and low prevalence, innovative solutions are crucial to improving patient outcomes. We will delve into how AI can revolutionize the identification of rare disease patients through advanced data analysis and pattern recognition. Attendees will also learn about a range of therapeutic innovations that are reshaping treatment paradigms and offering new hope for patients during this session from Sanofi Medical.
Sponsored Lunch Symposia | 12:30 pm - 1:45 pm
Third Generation Sequencing: Clinical Cases Solved Using Short and Long Read Genome Sequencing
The learning objectives from this Variantyx session are:
- Recognize the essential benefits and limitations of short read and long read whole genome sequencing for diagnostics.
- Use specialized algorithms to detect and visualize complex variant types in whole genome data.
- Define how short read and long read sequencing are used
Register now - Registration is full, but individuals are welcome to arrive early to see if there is space on the day of the presentation.
An Evolving Landscape: Innovations in Variant Classification to Reduce Uncertainty in Clinical Genetic Testing
At the Invitae sponsored session, we will describe the current landscape of variants of uncertain significance (VUS) in hereditary genetic testing and the status of VUS resolution in a large-scale clinical environment. We will then evaluate different approaches for resolving VUS with an emphasis on the value of applying new methods for maximizing the use of existing and newly available data. We will explore various aspects of the Invitae Evidence ModelingTM Platform, with a focus on a more quantitative machine-learning enabled approach for objectively and systematically incorporating clinical evidence into variant classifications. We will conclude the presentation with case examples to illustrate the approaches discussed.
Speakers:
- Flavia Facio, MS, CGC - Medical Affairs, Invitae
- Molly Stetler, MS, CGC - Clinical Science Liaison, Invitae
- Sarah Hamilton, MS, CGC - Medical Affairs, Invitae
Pre-registration is not required. This session is open on a first-come first-serve basis.
Sponsored Breakfast Symposia | 7:45 am - 8:30 am
Better Care for Rare: Identifying Lysosomal Disorders
The objectives of this talk from Sanofi Rare Diseases are to understand the general pathophysiology and inheritance patterns of lysosomal storage disorders (LSDs), Fabry, Pompe, Gaucher Disease type 1, ASMD, and MPS I , recognize the signs and symptoms, understand the unique diagnostic algorithms and methods for testing and comprehend the key aspects of disease management and monitoring.
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Navigating the Non-Traditional: A Look Into Fertility Challenges and Novel Referral Indications
Join Labcorp as they share fertility-focused case studies that highlight the challenges and available options for non-traditional families, novel referral indications and how genetic counselors can support the patient.
CEU credit available for Labcorp's sponsored session.
Register Now - Registration is full, but individuals are welcome to arrive early to see if there is space on the day of the presentation.
Sponsored Lunch Symposia | 12:45 pm - 2:00 pm
How Genetic Counselors Can Integrate Breast Cancer Risk Assessment Programs Into Surgical, Primary Care, OB/GYN, and Imaging Clinics
During this symposium, Myriad will share how to set up a breast cancer risk assessment program within the workflows and unique patient needs spanning surgery, OB/GYN, primary care and imaging practices. Attendees will hear real world examples from providers, including genetic counselors, who have successfully integrated these types of programs into their clinics and how patient care was positively impacted.
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Innovations in Genetic Testing: Designing and Selecting Effective Panels for Maximized Clinical Utility
Join Ambry Genetics for an engaging lunch symposium that will provide an in-depth look at how they approaches the design of genetic testing menus and panels, emphasizing gene-disease validity, clinical utility, and the evolving landscape of clinical testing.
Presenters Carrie Horton, Senior Medical Liaison and Clinical Researcher, and Jennifer Herrera-Mullar, Principal Clinical Scientist, will share insights on the process behind creating robust and clinically relevant genetic tests.
Guest speaker, Dr. Tuya Pal, a board-certified clinical geneticist and researcher from the Vanderbilt-Ingram Cancer Center, will offer a clinician's perspective on laboratory and test selection, supported by real-world case examples.
This symposium is an excellent opportunity for genetic counselors to enhance their understanding the technical, clinical, and practical considerations involved in genetic test development and selection, directly from industry experts and a practicing clinician.
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Sponsored Breakfast Symposia | 7:45 am - 8:30 am
Unraveling the Genetics of Obesity: Insights into Rare Melanocortin-4 Receptor Pathway Diseases
Join Rhythm Pharmaceuticals to discuss genetics of obesity.
- Explore the MC4R pathway and its relationship with obesity and hyperphagia
- Review key clinical characteristics associated with rare MC4R pathway diseases
- Discuss genetic testing for obesity and identification of patients with rare MC4R pathway diseases
Improving Patient Access to Genomic Sequencing: Partnering with Specialty Clinics
At least 263 million individuals are living with rare genetic disorders, 70% of which have pediatric onset.1 For many of these patients, guidelines recommend exome or genome sequencing as a first-line test, which provides the highest diagnostic yield. In addition, the cost of testing has declined over the past decade and an increasing number of insurance providers offer reimbursement.
Despite all this, many patients still experience a lengthy diagnostic odyssey before receiving exome or genome sequencing. In recent years, that delay has been exacerbated by the medical geneticist workforce not growing at a rate that maintains pace with the demand for testing.
Genetic counselors are uniquely positioned to partner with specialty pediatric clinicians to help identify exome/genome-eligible patients and facilitate testing. This session, presented by Gene DX, will illustrate the clinical and diagnostic utility of genetic counselors partnering with specialty clinics to facilitate testing and highlight their impact on the diagnostic odyssey for exome/genome-eligible patients.
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Sponsored Lunch Symposia | 12:15 pm - 1:30 pm
Rapid Whole Genome Sequencing (WGS): Molecular Diagnostic Yield and Syndromic Landscape
In this session, Prevention Genetics will outline the differences between their rapid WGS and rapid WES methodologies and will dive deeper into the clinical utility of WGS across phenotypic indications and disease states. Clinical cases will be presented to demonstrate the benefits and limitations of WGS, as well as highlight examples in which reportable variants would have been missed on other testing methodologies.
CEU credit available for Prevention Genetics sponsored session.
Register Now - Registration is full, but individuals are welcome to arrive early to see if there is space on the day of the presentation.
Homologous Recombination Testing in Solid Tumors
This program, presented by AstraZeneca, features educational content to support biomarker testing for homologous recombination dysfunction across 4 cancer tumor types: ovarian, breast, prostate, and pancreatic.
Topics covered include:
- A review of the homologous recombination repair pathway
- Guideline recommendations for biomarker testing
- An overview of available assays
- Testing considerations
- Approaches to address common challenges associated with biomarker testing
Pre-registration is not required. This session is open on a first-come first-serve basis.
Sponsored Breakfast Symposium | 7:45 am - 8:30 am
Advancements in Rett syndrome (RTT) care
Learn about the latest treatment approaches for managing patients living with RTT from the perspectives of RTT experts and a caregiver during this sponsored session from Acadia Pharma.
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SOHONOS™ (palovarotene) capsules: A Treatment to Reduce the Volume of New Heterotopic Ossification (HO) for People Living With Fibrodysplasia Ossificans Progressiva (FOP)
Sponsored by Ipsen - Pre-registration is not required. This session is open on a first-come first-serve basis