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:
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.
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.
Charcot-Marie-Tooth disease (CMT) is a group of hereditary neuropathies that is characterized by weakness of the foot and lower leg muscles. Symptoms are caused by an impairment in the ability of peripheral nerves to conduct signals throughout the body and result in reduced motor control and sensation in the arms and legs. Different subtypes of CMT exist and genetic testing is often needed to identify the specific subtype. In this webinar, licensed genetic counselor Carly Siskind will explore the underlying genetics, diagnostic options, and clinical management strategies for CMT. She will also discuss the CMT Association and its role as a support resource for clinicians and for patients who are managing this progressive condition.
Hypertrophic cardiomyopathy (HCM) is one of the most common single-gene inherited cardiovascular conditions and the most common cause of sudden cardiac death in athletes in the United States. It can present anytime from infancy through adulthood.
Defined by unexplained, abnormal thickening of the heart muscle, or myocardium, HCM can impair both how the heart contracts and the heart’s electrical system, leading to palpitations, dizziness, fainting, chest pain, shortness of breath, and, in some cases, sudden cardiac arrest or death.
Individuals with clinical symptoms of HCM may benefit from diagnostic genetic testing to better understand risks, confirm a diagnosis, and inform management. Asymptomatic individuals within a family with a known HCM mutation may also benefit, as testing may clarify their personal risk of developing HCM and allow for the consideration of medical management.
In this webinar, internationally renowned cardiologist and scientist Dr. Christopher Semsarian offers an overview of the diagnosis and management of HCM from a molecular, genetic, and clinical perspective, and discusses published HCM guidelines.
Noonan syndrome is a genetic condition, often identified at birth, that can be characterized by a wide spectrum of symptoms and physical features. Clinical findings of Noonan syndrome (and related disorders) include congenital heart defects, craniofacial features, cutaneous abnormalities, tumor development, and more. Noonan spectrum disorders are known as RASopathies due to their impact on the RAS-mitogen-activated protein kinase (MAPK) intracellular signaling pathway. Invitae offers panel testing for conditions that fall under this spectrum.
In this webinar, Britt Johnson will describe both the underlying genetics, as well as the laboratory offerings relevant to obtaining a diagnosis for patients presenting with these clinical features.
As many as 5 to 15% of gynecological cancers are inherited. In this webinar, Invitae’s genetic counselor, Tali Ekstein, will review Invitae’s Hereditary Gynecologic Cancers Panel. We will discuss when this panel may be considered, review the key genes, and cover case studies related to ovarian and endometrial cancers. We will also review how the information obtained from genetic testing may benefit your patient and their family members.
Hereditary cancer syndrome testing is becoming increasingly prevalent, yet adoption by community oncology practices has been minimal. Raluca Kurz, a genetic counselor at Invitae, will discuss current drawbacks to incorporating genetic testing into a community oncology practice and how Invitae is helping to overcome these barriers.
Examples include report interpretation, turnaround time, and genetic counseling. We’ll discuss BRCA and the high-risk breast cancer genes as well as management guidelines. The webinar will close with a few case studies of reviewing a family history and then choosing the correct test for your patient.
The use of multi-gene panels in hereditary cancer clinics is increasing. Heather Hampel, MS, CGC and Tuya Pal, MD will present cases from their clinical experience that have utilized panel testing. The speakers will highlight the potential benefits of panels as well as difficulties including managing patient expectations, dealing with positive results in moderate penetrance genes and multiple VUSes per patient.
New research findings from Stanford published in JCO on multi-gene panels for hereditary cancers: what have we learned about improving patient care?
According to a new publication from Stanford in the Journal of Clinical Oncology, as many as 10 percent of women with a personal or family history of breast or ovarian cancer have at least one genetic mutation that, if known, would prompt their doctors to recommend changes in their care, according to a new study by researchers at the Stanford University School of Medicine.
The women in the study did not have mutations in BRCA1 or BRCA2 (mutations in these genes are strongly associated with hereditary breast and ovarian cancer), but they did have mutations in other cancer-associated genes.
The study was conducted using what’s known as a multiple-gene panel to quickly and cheaply sequence just a few possible genetic culprits selected by researchers based on what is known about a disease. Although such panels are becoming widely clinically available, it’s not been clear whether their use can help patients or affect medical recommendations.
This seminar aims to answer those questions, both from the research study, featuring lead author Dr. Allison Kurian.