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Este webinar está dirigido a genetistas, consejeros genéticos y otros profesionales de la salud interesados en la interpretación de variantes y su clasificación, en donde:

1. Describir los retos fundamentales en la interpretación de variantes.
2. Discutir las guías de interpretación del Colegio Americano de Genética Médica (ACMG) y de la Asociación de Patología Molecular (AMP) de EUA.
3. Presentarle cómo Invitae realiza la interpretación de variantes incluyendo modelos funcionales robustos, cuantitativos y escalables.

El uso de pruebas genéticas para identificar y caracterizar a pacientes con cáncer hereditario en América Latina ha ido incrementando. El Dr. Ossa nos platicará su experiencia, de más de 9 años, basada en casos clínicos y en sus pacientes.

En este Webinar ustedes aprenderán:

1. La importancia del árbol genealógico para determinar qué panel elegir
2. La forma en la que los genes de alta y mediana penetración cambian el diagnóstico y las decisiones terapéuticas en los casos clínicos
3. Las herramientas disponibles en línea para ayudar a definir las estrategias de la atención médica en pacientes con cáncer hereditario
4. Cómo ordenar una prueba genética e interpretar los resultados
5. Las implicaciones de la genética en la atención médica del paciente y de su familia
6. Se discutirán los resultados de un póster presentado en SACBS 2019

In this webinar, presented by Hana Sroka, MSc, CCGC, CGC, attendees will learn how carrier screening can help patients who are already pregnant or considering pregnancy.

Carrier screening identifies patients who are at increased risk of having a child affected with a genetic disorder, providing actionable information for the next steps of their reproductive journey.

Seleccionar la prueba genética adecuada para sus pacientes puede ser difícil, especialmente para presentaciones clínicas complejas. Entienda cómo hacerlo con la Consejera Genética Ana Morales mientras discute:
1. Elegir la prueba genética adecuada para su paciente, desde pruebas de un solo gen hasta exomas
2. Maximizar el rendimiento diagnóstico de la secuenciación del exoma
3. Las opciones de pruebas de alta calidad y bajo costo de Invitae, incluidos los programas patrocinados de pruebas
4. Simplificando el proceso de prueba con pedidos en línea y soporte de telemedicina

If you missed our sponsored testing webinar last October, this is your chance to see an updated version and have all your questions answered. Our experts will discuss the details of Invitae's sponsored, no-charge testing programs. They will outline the structure and benefits of the programs and discuss how they are designed to increase access to genetic testing. We will also dive into Invitae's de-identified data sharing policies and share how we protect your patient's personal information. Finally, we will discuss the benefits of the Detect family of sponsored testing programs.

Part one: Big data approaches to evaluating the variant of uncertain significance.
Presented by: Dr. Dan M. Roden

Part two: Reducing variants of uncertain significance through functional modeling and artificial intelligence in cardiovascular genetic testing.
Presented by: Dr. Dianalee McKnight

NGS has revolutionized genetic testing, but not all NGS approaches are the same. Some may suffer from limitations that reduce or eliminate their sensitivity to certain types of technically challenging variants, and the prevalence of these are not widely understood.

Please join us as we discuss the important aspects of NGS assay design and bioinformatics that can influence analytical sensitivity for a broad spectrum of variant types.

The program, focused on the detection of complex variants, will help learners:

1. Define the types and prevalence of variants that are challenging to detect by next-generation sequencing;

2. Examine aspects of clinical genetic test design that can aid in the accurate detection of challenging variants.

In this webinar, intended for immunologists, Dr. Britt Johnson will share:
1. Information about genetic testing as a direct, cost-effective, and accurate diagnostic tool for your patients
2. How Invitae helps clinicians translate genetic information into meaningfully better care for patients, including:
- high-quality test options, such as the Invitae Primary Immunodeficiency Panel
- family variant testing, which helps ensure relatives who should get tested do get tested: if Invitae finds that your patient has a pathogenic or likely pathogenic variant, we offer testing to relatives for that same variant at no additional charge
- $250 USD patient-pay option for Invitae testing
3. Learn how to access a sponsored testing program, which provides genetic testing with the Invitae Severe Congenital Neutropenia Panel at no charge for eligible patients
4. Review Invitae’s telehealth solutions, which help patients and providers continue to access genetic testing remotely in the current public health climate.

In this live webinar, Daniel Anderson and Gautam Mehta will discuss the details of Invitae's genetic testing partnerships and how they can:

1. Remove barriers to testing, allowing patients to receive an accurate diagnosis quicker
2. Inform patients and clinicians of clinical trial and treatment opportunities
3. Confirm positive diagnoses and suspected cases with genetic testing
4. Accelerate enrollment in clinical trials
5. Help clarify the natural history of disease using patient-reported outcomes and clinical records

In this webinar, intended for pediatric neurologists and epilepsy specialists, Dr. Dianalee McKnight will share:

1. How early genetic testing can be used as a direct, cost-effective, and accurate diagnostic tool for patients with epilepsy
2. Information on Invitae’s comprehensive, high-quality approach to genetic testing, including our laboratory technology and flexible ordering options
3. How to access the 180+ gene Invitae Epilepsy Panel at no cost for eligible patients from 0-8 years of age through a sponsored testing program
4. Review Invitae’s telehealth solutions, which allows patients and providers to access genetic testing remotely during the current public health climate