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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." 


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.


How to test a test

Steve Lincoln, Invitae
May 11, 2016
Series: Leading with Science
View Recording

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?
 


Cardiovascular genetic testing with Invitae

Nicole M. Johnson, ScM, LCGC, Invitae Genetic Counselor
October 19, 2015
View Recording

Invitae is making high-quality cardiovascular genetic testing faster and more affordable than ever before. Our expanded test menu includes broad, comprehensive, and combined panels, as well as single-gene tests.

In this webinar, Invitae genetic counselor Nicole M. Johnson describes our new cardiovascular offerings as well as our flexible menu, with which you can easily select a pre-curated panel, combine multiple panels, or customize your own panel with one click. Our affordable and transparent pricing allows you to choose the right genes for your patient, knowing exactly what it will cost.

Invitae’s team of medical and genetic experts combines full-gene next-generation sequencing and exonic copy number analysis with rigorous evidence-based variant classification methods to provide clearly interpreted diagnostic results.