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Recent Webinars

Next-generation sequencing (NGS)-based detection of deletions and duplications in heritable cardiovascular conditions

Matteo Vatta Ph.D., FACMG
May 24, 2017
Series: Leading with Science
View Recording

Next-generation sequencing (NGS) effectively detects both del/dup events and sequence alterations, and has a number of advantages over traditional techniques. Intended for genetic counselors, physicians, and other healthcare providers, this presentation will help you to:

  • Understand how next-generation sequencing (NGS) can detect both del/dup events and sequence alterations
  • Assess the advantages of NGS-based del/dup detection, including improved coverage compared to traditional techniques
  • Describe the frequency of del/dup events in heritable cardiovascular conditions

Dr. Vatta is a clinical molecular geneticist with more than 20 years of experience in cardiovascular genetic research and 10 years in cardiovascular genetic diagnostics. Before joining Invitae, Dr. Vatta was the Director of the Cardiovascular Genetics Section at the Indiana University Molecular Genetics Diagnostic Laboratory in the Division of Diagnostic Genomics and Associate Professor of Clinical Medical and Molecular Genetics at Indiana University. There, he led the development and launch of next-generation sequencing analysis for clinical testing. Dr. Vatta received his Ph.D. in molecular genetics from the Scuola Internazionale Superiore di Studi Avanzati/International School of Advanced Studies (SISSA/ISAS) in Trieste, Italy, with a thesis on the “Molecular Genetic Approach to the Study of Dilated Cardiomyopathy." 


What is the role of DNA diagnostics in cardiovascular medicine?

Robert Nussbaum, MD
March 28, 2017
Series: Invitae Insights
View Recording

Looking for insights into the care of families with inherited cardiovascular diseases and the implications for genetic testing? This webinar describes the role of DNA diagnostics in cardiovascular medicine. Intended for genetic counselors, physicians, and other healthcare providers, the presentation will help you better:

  • Understand the role of genetic testing in the diagnosis and management of cardiovascular disease
  • Identify patients who are most likely to benefit from genetic testing
  • Interpret genetic test results confidently

Dr. Nussbaum has served as Invitae’s Chief Medical Officer since August 2015. Prior to joining Invitae, he was chief of the Division of Genomic Medicine at UCSF Health, where he also held leadership roles in the Cancer Genetics and Prevention Program beginning in January 2009 and the Program in Cardiovascular Genetics beginning in July 2007. From April 2006 to August 2015, he served as a member of the UCSF Institute for Human Genetics. Prior to joining UCSF Health, Dr. Nussbaum was chief of the Genetic Disease Research Branch of the National Human Genome Research Institute, one of the National Institutes of Health, from 1994 to 2006.

He is a member of the Institute of Medicine and a fellow at the American Academy of Arts and Sciences. Dr. Nussbaum is a board-certified internist and medical geneticist who holds a B.S. in Applied Mathematics from Harvard College and an M.D. from Harvard Medical School in the Harvard-MIT joint program in Health Sciences and Technology. He completed his residency in internal medicine at Barnes-Jewish Hospital and a fellowship in medical genetics at the Baylor College of Medicine.

Topic: Cardiology

Diagnostic and therapeutic approaches to catecholaminergic polymorphic ventricular tachycardia (CPVT)

Silvia Priori, M.D., Ph.D.
February 02, 2017
Series: Invitae Insights
View Recording

We are pleased to jointly present a three part medical education webinar series with the Sudden Arrhythmia Death Syndromes (SADS) Foundation. The series is designed to educate genetic counselors, physicians, and other healthcare providers about the care of families with inherited arrhythmias and implications for genetic testing.

In this third webinar, Silvia Priori, M.D., Ph.D. presents the latest diagnostic and therapeutic approaches to catecholaminergic polymorphic ventricular tachycardia (CPVT). 

Professor Priori is full professor of cardiology at the University of Pavia (Italy), general scientific director of the IRCCS Fondazione Salvatore Maugeri, director of cardiac rehabilitation, and head of the molecular cardiology laboratories at the IRCCS Fondazione Salvatore Maugeri. Professor Priori is also director of the cardiovascular genetics program at the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC) in Madrid, Spain.

Professor Priori's research laboratories have helped to define the fundamental mechanisms of arrhythmogenesis and abnormalities of intracellular calcium that cause sudden cardiac death in patients with inherited arrhythmias. More recently, Professor Priori’s research has focused on the development of molecular therapies for inherited arrhythmias.

Topic: Cardiology
Tags: CPVT

Diagnostic and therapeutic approaches to long QT syndrome (LQTS)

Michael J. Ackerman, M.D., Ph.D.
December 14, 2016
Series: Invitae Insights
View Recording

We are pleased to jointly present a three part medical education webinar series with the Sudden Arrhythmia Death Syndromes (SADS) Foundation. The series is designed to educate genetic counselors, physicians, and other healthcare providers about the care of families with inherited arrhythmias and implications for genetic testing.

In this second webinar, Michael J. Ackerman, M.D., Ph.D. presents the latest diagnostic and therapeutic approaches to long QT syndrome. 

Dr. Ackerman is the Windland Smith Rice Cardiovascular Genomics Research Professor and Professor of Medicine, Pediatrics, and Pharmacology at the Mayo Clinic in Rochester, Minnesota. He is a consultant in cardiovascular diseases and pediatric cardiology and serves as Director of Mayo Clinic’s Long QT Syndrome/Genetic Heart Rhythm Clinic and the Windland Smith Rice Sudden Death Genomics Laboratory.

Dr. Ackerman strives to fulfill the two-fold objective of medical education and biomedical research, as stated by Dr. Charles H. Mayo, “to heal the sick and to advance the science.”

 

Topic: Cardiology
Tags: LQTS

Latest Diagnostic and Treatment Strategies for ARVD/ARVC

Hugh Calkins, MD and Brittany Murray, CGC
November 22, 2016
Series: Invitae Insights
View Recording

We are pleased to jointly present a three part medical education webinar series with the Sudden Arrhythmia Death Syndromes (SADS) Foundation. The series is designed to educate genetic counselors, physicians, and other healthcare providers about the care of families with inherited arrhythmias and implications for genetic testing.

In this first webinar, Hugh Calkins, M.D. and Brittney Murray, M.S., CGC, both of The Johns Hopkins Hospital, discuss the latest diagnostic and treatment strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Dr. Calkins is the Nicholas J. Fortuin M.D. professor of cardiology and director of the electrophysiology laboratory and arrhythmia service at The Johns Hopkins Hospital.

Ms. Murray is the clinical genetic counselor/program coordinator of the Johns Hopkins Hospital ARVD/C program.

Topic: Cardiology
Tags: ARVD, ARVC

PMS2 pseudogene and disambiguation

Erin O'Leary, MS, CGC
October 27, 2016
Series: Leading with Science
View Recording

Lynch syndrome is characterized by familial predisposition to cancers of the colon, endometrium, ovary, stomach, and urinary tract. 4–11% of cases are caused by variants in PMS2. Testing for inherited PMS2 variants is hampered by a pseudogene, PMS2CL, which has nearly identical homology to PMS2 in exons 12–15 of the gene. Therefore, it is difficult to determine if a variant is in PMS2 or PMSCL and different and innovative methods are needed for analysis of this region.

Erin O’Leary, MS, LCGC discusses Invitae’s methods to disambiguate variants detected in PMS2 exons 12–15. Variant interpretation in this region of PMS2 is highly dependent on laboratory methods. Therefore, a laboratory’s technology and methods are crucial in avoiding misdiagnoses of Lynch syndrome and inappropriate management.


Mosaic genetic variants in hereditary germline genetic testing: the expected and the unexpected

Dr. Anne Deucher, Molecular Genetic Pathology, Hematopathology, University of California, San Francisco, and Invitae
May 20, 2016
View Recording

Next-generation sequencing (NGS) technology with deep sequencing coverage enhances sensitivity to detection and allows identification allele balances suggestive of low-level mosaicism that was recently undetectable by Sanger sequencing. Detection of a mosaic variant in a patient being tested for an inherited cancer predisposition poses challenging considerations for clinical interpretation and genetic counseling.

To facilitate understanding of the clinical manifestations, this presentation describes the causative biologic events underlying germline, somatic, and gonosomal constitutional mosaicism. Because a finding of mosaicism in the peripheral blood may have prognostic significance related to risk for development of a hematopoietic malignancy, the presentation explores the concept and criteria for the newly proposed entity of “clonal hematopoiesis of indeterminate significance” and discusses the role of TP53 mutations in the origin and evolution of selected clones with increased neoplastic potential created secondary to cytotoxic chemotherapy and/or radiotherapy exposure.

Follow-up clinical management recommendations are presented that can be used when a mosaic variant is unexpectedly found in the peripheral blood. Finally, because mosaic findings are expected and can affect inherited genetic disease testing in patients with known hematopoietic malignancies, the presentation also covers important considerations for clinical interpretation, including limitations to testing in patients testing with known circulating hematopoietic neoplasms.


How to test a test

Steve Lincoln, Invitae
May 11, 2016
Series: Leading with Science
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What does it mean to be a gold standard in genetic testing? At Invitae, we believe there’s a new gold standard today, one that includes both high quality testing and a dedication to improving medicine through data sharing.

In this webinar, Steve Lincoln, head of scientific affairs at Invitae, discusses ways in which you can make sure the testing you provide your patients meets a high standard of excellence.

Invitae’s philosophy is to combine thoroughly validated analysis with a dedication to submitting our variant interpretations into the public domain. In this way we are setting a new gold standard.


KCNQ2-related epilepsy: impact of genetic testing

John J. Millichap, MD FAAP, Ann & Robert H. Lurie Children’s Hospital of Chicago and Northwestern University Feinberg School of Medicine
November 17, 2015
Series: Invitae Insights
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Several genes have been implicated in causing genetic forms of epilepsy. In this webinar, Dr. John Millichap will describe the molecular impact of KCNQ2, a gene responsible for causing early onset epilepsy. He will also share insight into the advocacy work of two organizations that provide education, resources, and support to affected families.


Hereditary cancer genetic testing with Invitae: Broader and more flexible testing options

Tali Ekstein, MS, LCGC
November 10, 2015
Series: Leading with Science
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Invitae recently announced the launch of hundreds of new genes and expanded panels. What does that mean for hereditary cancer testing? In this short webinar, Invitae genetic counselor Tali Ekstein describes the new and expanded panels, explains the reasoning behind each grouping of genes, walks through how to order the new panels and genes, and shares the resources we have developed for you.

For additional information on limited-evidence genes for hereditary cancer, please see the webinar Hereditary Cancer Limited-Evidence Genes: What are They?