Please join us on December 13th to learn from genetic counselors Katie Angione and Lacey Smith as they discuss clinical cases in the management and targeted treatment of genetic childhood epilepsies.
Katie Angione, MS, CGC, is a certified genetic counselor in the Neurology Department at Children’s Hospital Colorado. She provides genetic counseling services to patients and families with neurological disorders, with a primary focus on syndromic and non-syndromic epilepsy disorders. She participates in the Tuberous Sclerosis and Rett Syndrome multidisciplinary clinics, as well as the diagnostic Neurogenetics Clinic at CHCO. In addition to her clinical work, Katie is involved in research studies with the goal of furthering the understanding of epilepsy genetics. This currently includes participation in the Epilepsy Genetics Initiative study based at Columbia University, as well as multiple internal studies investigating the genetic etiology of Doose syndrome. Katie is also a member of EpiGC, a consortium of genetic counselors whose aim is to promote quality services to patients and families affected by epilepsy.
Lacey Smith, MS, CGC, is a licensed genetic counselor in the Epilepsy Genetics Program at Boston Children’s Hospital. She provides genetic counseling services to patients and families seen in the clinical consultation program. In addition to her clinical work, she developed and coordinates the PCDH19 patient registry at BCH and is involved in a variety of research projects and collaborations that aim to better understand the genetic contributions to epilepsy. Lacey is a member of EpiGC, a consortium of genetic counselors whose aim is to promote quality services to patients and families affected by epilepsy, and is a co-author of the upcoming NSGC practice guideline for genetic testing in epilepsy.
Please join us on November 13th to learn from Dr. Joseph Sullivan and Dr. Swaroop Aradhya as they discuss diagnostic yield in the detection of childhood epilepsy.
Dr. Joseph Sullivan, a pediatric neurologist, is the director of the UCSF Pediatric Epilepsy Center, where he specializes in the evaluation and treatment of children with epilepsy, in particular the treatment of refractory epilepsy that does not respond to medications. He also has a specialized Dravet/PCDH19 clinic, where he follows a large cohort of children with these types of genetic epilepsy. Dr. Sullivan is a member of the Pediatric Epilepsy Consortium, which brings together pediatric epilepsy centers across the United States to collaborate on various studies in pediatric epilepsy. Sullivan has been involved in research using functional magnetic resonance imaging (fMRI) to identify areas in the brain that control language in children with epilepsy. Prior to joining UCSF Benioff Children's Hospital in 2007, Dr. Sullivan completed residencies in pediatrics at Children's Memorial Hospital at Northwestern University where he spent an additional year as chief resident. He then completed his child neurology, clinical neurophysiology and epilepsy training at Children's Hospital of Philadelphia.
Dr. Aradhya is a board-certified molecular geneticist and cytogeneticist who has helped shape professional practices and technology applications in clinical genetic testing over the past 15 years. 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. Before Invitae, Swaroop was VP and senior laboratory director for Neurogenetics and Clinical Microarrays at GeneDx. He completed medical genetics training in 2007 at Stanford University and received his Ph.D. in molecular and human genetics in 2001 at Baylor College of Medicine. Over the course of his career, he has participated in the international Human Genome Project to sequence the X chromosome and helped characterize several genetic disorders. He is currently a ClinGen investigator, serves on the Board of Directors of the American Board of Medical Genetics and Genomics, and is an adjunct clinical associate professor at Stanford University School of Medicine.
Please join us on October 30th as Dr. Randy Scott discusses the future of genetic testing and how we can make genetic information affordable and accessible to all.
Randy Scott is executive chairman of Invitae and Genome Medical. Prior to this position, Randy served as chief executive officer at Invitae. Prior to co-founding Invitae, Randy served as Genomic Health's Chief Executive Officer from 2000 until 2009 and Executive Chairman until 2012. Under Randy's leadership, Genomic Health developed and launched two revolutionary cancer diagnostics tests. At Incyte, Randy served in various roles from 1991 through 2000, including Chairman of the Board, President and Chief Scientific Officer. Randy holds a B.S. in Chemistry from Emporia State University and a Ph.D. in Biochemistry from the University of Kansas. Randy is a prominent thought leader in the genomics and sequencing space and is the author of more than 40 publications, 20 patents, and is the recipient of numerous awards, which highlight his leadership in the personalized medicine space.
Please join our webinar on October 25th to learn from Dr. Brenda Porter and Ms. Kim Nye as they discuss the importance of early and accurate genetic testing in epilepsy.
Dr. Brenda Porter is an Associate Professor of Neurology at Stanford University. She received her MD and PhD from Washington University in St. Louis. Dr. Porter developed an interest in difficult to treat epilepsy, with a special focus on children with neuronal developmental disorders leading to epilepsy such as tuberous sclerosis and focal cortical dysplasia. Her clinical research focuses on improving outcomes in epilepsy surgery, increasing parental understanding of epilepsy and the role epilepsy surgery plays in treatment. Currently she sits on the National Institutes of Health’s (NIH) Neuroscience Training (NST-1) study section and has helped Citizens United for Research in Epilepsy (CURE) and the Tuberous Sclerosis Alliance with their grant reviews.
Kim Nye is the President and Founder of TESS Research Foundation, a nonprofit organization that aims to find better treatment options for SLC13A5 Deficiency. Kim holds a BA from Princeton University. She lives in California with her husband, Zach, and their four children: Tessa, Lily, Maggie, and Colton. Both Tessa and Colton have SLC13A5 Deficiency. Kim was a graduate student at Oxford University when she gave birth to her first daughter, Tessa. When Tessa began having unrelenting seizures shortly after birth, Kim began searching for the underlying cause. This was the start of a 10-year diagnostic odyssey. In addition to her work at TESS Research Foundation, Kim serves as a Lay Reviewer for CURE and is on the Steering Committee for the Rare Epilepsy Network.
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:
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."
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.
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.
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.
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.
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?