In this webinar, Heather McLaughlin, PhD, FACMG, will provide an in-depth discussion of the Invitae Boosted Exome, including patient selection, ordering tips, coverage performance, and how Invitae's rigorous analysis is informed by the patient's phenotype and genotype.
The webinar, intended for genetic counselors, geneticists, and other healthcare providers interested in variant classification, will help you understand how to:
* define the limitations of existing approaches to variant interpretation
* understand how to address variants of uncertain significance
* evaluate the validity and clinical application of robust, quantitative, and scalable functional modeling approaches to variant classification
Case examples will be provided. Participate in the Q&A session at the end of the webinar by asking questions during the webinar or submitting them in advance at the time of registration.
In this webinar, the speakers will examine the results of a large genetic epilepsy study conducted using the Invitae Epilepsy Panel to test more than 9,700 individuals. They will reinforce the need for early detection with genetic testing, discuss the potential precision medicine implications for patients, and highlight the benefits of our sponsored testing program for pediatric epilepsy.
In this webinar, guideline authors Ray E. Hershberger, MD, Matteo Vatta, PhD, and Ana Morales, MS, CGC, will review updated recommendations for the genetic evaluation of cardiomyopathy collaboratively published for the Heart Failure Society of America (HFSA) and the American College of Medical Genetics and Genomics (ACMG), including recommendations for family history, phenotype screening of at-risk family members, referral to expert centers, genetic counseling, and cardiovascular therapies.
In this presentation, given as part of the NSGC Annual Conference in Salt Lake City, Genetic Counselor Brandie Leach discusses the complexity of variant interpretation and VUSs, and their impact on patients. Dr. Carlos Araya provides background information on Invitae's approach to variant interpretation using the Sherloc framework and discusses our efforts to enable high quality variant interpretation at scale. He then discusses the details of the functional modeling technology and its performance. Finally, he reviews future efforts at Invitae for scaling molecular and cellular evidence to improve variant classification at Invitae.
Please join us on October 10 to learn from Michelle Fox and Michael Hamilton as they discuss how Invitae's sponsored testing programs are increasing access to genetic testing.
Michelle Fox provides consultation services to organizations, laboratories, and businesses, including Invitae. She is President of the Southern California Genetic Counselors and was recently elected to the National Society of Genetic Counselors Board of Directors.
Gautam R Mehta currently leads the Biopharma Implementation team at Invitae. As part of this team, he is working to scale and streamline the operations of all of Invitae's biopharma programs, which help reduce barriers to genetic testing and enable patients get an accurate diagnosis faster. Previously, Gautam led international lab operations and helped design and develop Invitae's assays and clinical lab workflows. Before joining Invitae, Gautam worked at Pfizer building next-generation sequencing assays to identify novel targets for drug development.
Michael Hamilton has extensive experience working with businesses to identify ways that healthcare and genetic data can be used in compliance with privacy laws to further scientific understanding and advancement. At Invitae, Michael works on a range of privacy and regulatory issues, with a focus on how genetics-related data can be used and shared.
Please join us on August 28 to learn from Dr. Pat Whitworth and Kate Dempsey Principe as they share insights about the new ASBrS guidelines and their implementation from two different perspectives: that of a breast surgeon and that of a genetic counselor.
Dr. Pat Whitworth is a breast surgical oncologist and Director of the Nashville Breast Center. He has served as Chair of the Board of Directors for the American Society of Breast Surgeons, Vice Chair of the Breast Committee for the American College of Surgeons Oncology Group, and Chair of the Research Committee for the ASBrS.
Kate Dempsey Principe is a certified genetic counselor, and the regional genetics coordinator for the Gulf Coast with Texas Oncology. She is an active member of the National Society of Genetic Counselors, and has served on the Membership Committee, the Access and Service Delivery Committee, and the Telegenetics Practice Guidelines Author Group.
Please join us on August 7 to learn from Drs. Nykamp and Araya, as they discuss the role of a functional modeling platform that utilizes computational and experimental approaches — including cellular and mRNA analyses — to inform the clinical significance of variants affecting both RNAs and proteins.
Keith Nykamp, PhD, currently leads the Clinical Sciences and Interpretation team at Invitae. As part of this team, he is working to improve the accuracy of variant classification with a robust, evidence-based system that can be applied consistently across all genes and diseases. Before joining Invitae, Keith worked as a Molecular Geneticist and Director of Next-Generation Sequencing (NGS) at PreventionGenetics. He holds a doctorate in Molecular Genetics from the University of Florida and was a postdoctoral fellow with the Howard Hughes Medical Institute at the University of Wisconsin-Madison.
Prior to joining Invitae, Carlos L. Araya, PhD, was the co-founder and CEO of Jungla Inc., an AI-driven biotechnology company focused on enabling robust, scalable and transparent clinical genomics for the precision medicine industry. Carlos completed postdoctoral work at Stanford University and holds a doctorate in Genome Sciences from the University of Washington. His work has been published in Nature, Nature Methods, Nature Biotechnology, and Nature Genetics, and featured in the New York Times.
Please join us on July 24th to learn from Dr. Aradhya as he shares insights from Invitae’s recent study published in Epilepsia Open involving nearly 10,000 patients that supports the routine and early use of genetic testing in childhood epilepsy.
Swaroop Aradhya, PhD, FACMG, is the head of Global Medical Affairs at Invitae. Dr. Aradhya is a board-certified molecular geneticist and cytogeneticist. He joined Invitae to help bring genetics into mainstream medicine by innovating laboratory technologies, fostering advances in evidence-based clinical standards, and building mechanisms to empower individuals globally to access their genetic information.
Please join us on June 11th to learn from Dr. Andrea Mazzanti as he discusses estimating and managing risk in patients with LQTS and CPVT.
Andrea Mazzanti, MD, is a cardiologist and researcher at the Molecular Cardiology Division of the IRCCS ICS Maugeri in Pavia, Italy. Since 2012, Dr. Mazzanti has worked with Professor Silvia G. Priori on clinical research in the field of genetic diseases of the heart.