Next & Now: Recent Episodes
Archive
Join Ambry Genetics for exciting, on-demand updates in genetic technologies and clinical diagnostics. Ambry’s core values have always included collaborating and sharing scientific discoveries to help families affected by genetic conditions.
Tune in here for cutting-edge discussions from leading clinicians, scientists, and researchers on a wide variety of topics.
Clinical exome sequencing is becoming more widely adopted every day. Based on the evidence offered hospitals, professional organizations, and even insurance companies are adopting and/or supporting the clinical exome for themselves. How might you convince someone who is still skeptical though? What evidence is available for the clinical and/or cost-effectiveness in exome. In this episode, we discuss some of the most compelling evidence available which supports clinical use of exome sequencing to give you the tools you need to convince the skeptics around you!
Analysis for ExomeNext takes place in two steps. In step 1, we look at genes in which mutations have already been associated with disease in humans. In step 2, we look at genes which have not been associated with human disease. How do we keep track of which genes belong in which step though? And how do we evaluate the potential of a gene that has never been reported as being associated with disease in humans to cause disease in the patient we have in front of us? In this podcast we speak with Erica Smith and Deepali Shinde about our ChaD and EMBoDy tools, two systems which allow us to do this type of analysis.
Christian Gund, genetic counselor at Ambry, interviews Megan Tucker, formerly a senior genetic counselor at St. Vincent Health in Indianapolis and current Program Director at Indiana State University. In this episode, Christian and Megan discuss the process of ordering exome sequencing from a clinical perspective including consenting the patient, dealing with VUSs, and secondary findings.
This webinar reviews recent literature and Ambry data that change how we understand and define hereditary breast and ovarian cancer. In addition, the Mauli Ola Foundation announces its 2nd annual "Battle for the Breasts" awareness event. This online surfing competition allows your clinic to participate for an opportunity to win up to $50,000 worth of hereditary breast cancer genetic testing, donated by Ambry Genetics. During the webinar, we provide a walk-through of the event, including details on how your clinic can register and participate.
Christian Gund, genetic counselor at Ambry, gives a follow up to our previous Podcast where we discussed Ambry’s cohort paper on Exome Sequencing. In this episode, Christian gives an overview of other papers that Ambry has published since starting Exome Sequencing, as well as some of the interesting new discoveries that they’ve provide the scientific community regarding already known diseases.