Next & Now

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.

In this 1 hour Webinar, we will review Cystic fibrosis, as well as an in depth summary of variant classification as it relates to CFTR. Kendra Waller, Genetic Counselor at Ambry Genetics, reviews classical symptoms of CF, as well as CFTR related disorders. Prior to her graduate work, Ms. Waller worked as a research technician for the Human Genome Project at the University of Texas, Southwestern Medical Center in Dallas, TX. Jade Tinker, Genetic Counselor at Ambry Genetics, talks more specifically about how CFTR classification works at Ambry, as well as their experience with it at this point in time. 

A summary of cardiovascular genetics designed to provide genetic professionals with some of the necessary tools for offering cardio genetic counseling and testing. Our speaker Amy Sturm is a Genetic Counselor at the Division of Human Genetics at Ohio State Wexner Medical Center Columbus, Ohio. She describes the basic anatomy and function of the heart, outlines the main types of cardiovascular disease, identifies the medical and family history characteristics suggestive of these inherited conditions, and demonstrates the unique components of cardiovascular genetic counseling within this subspecialty of genetics.

As diagnostic clinical exome sequencing becomes more accessible and affordable, it’s clinical applications are undoubtedly expanding. This 1-hour* presentation will focus on providing clinicians with an overview of Ambry’s ExomeNext and ExomeNext-Rapid and will explore the utilization of this diagnostic tool in the clinical setting.

This webinar presents an overview of the basics of inborn errors of metabolism from a clinical perspective. Our speaker, Dr. Samantha Vergano, is the Division Director of Medical Genetics and Metabolism at the Children’s Hospital of King’s Daughters in Norfolk, Virginia. Dr. Vergano discusses the identification of biochemical disorders through clinical presentation and testing, and touches aspects of appropriate management. 

In the hour, we explore the post diagnostic implications of whole exome sequencing as it pertains to clinical practice with some eye opening data from our two speakers Julie Cohen and Dr. Alejandro Iglesias. Julie is a Genetic Counselor at Kennedy Kreiger Institute in Baltimore Maryland, and Dr. Alejandro Iglesias has been a pediatrician and geneticist for the last 25 years. 

Lindsey Avner and Leslie Jacobs share powerful information about the impact of genetic testing in young women with increased risk for breast and/or ovarian cancer. Lindsey is the founder and CEO of Bright Pink, a national non-profit, on a mission to save lives by encouraging young women to be proactive about breast and ovarian cancer risk from a young age. Leslie is the current support ambassador for the Cincinnati Bright Pink location.  

A webinar dedicated to Epilepsy Awareness Month.   Tom Stanton is the Executive Director of the Danny Did Foundation, an organization inspired by his own nephew Danny who was lost shortly before his fifth birthday to Sudden and Unexpected Death in Epilepsy (SUDEP). The Danny Did Foundation works to advance public awareness of SUDEP, enhance the SUDEP communication model between medical professionals and families affected by epilepsy, and mainstream seizure detection and prevention devices that may assist in preventing seizure-related deaths. Glenna Steele is the current president of the Glut1 Deficiency Foundation, a family organization dedicated to people living with epilepsy caused by Glut1 deficiency. The Glut1 Deficiency Foundation educates others about Glut1 Deficiency and its primary treatment (ketogenic diet), increasing awareness and advocacy for this condition, and supporting research that is working toward a cure.

In this webinar, Dr. Anne Kathryn Goodman provides an overview of ovarian cancer types, risk factors, and therapies. She describes the mechanism of PARP inhibitors and compares them to traditional ovarian cancer treatments.

Genetic counselor Christian Gund hosts a Q&A session with genetic counselor Kelly Farwell Hagman, lead author for Ambry’s 2014 Genetics in Medicine publication about the family-centered power of exome sequencing.  

Genetic counselor Christian Gund discusses the power of testing trios when doing exome sequencing, and why the technology is a family-centered analysis.

The selective capture and sequencing of coding regions in the genome is a powerful and cost effective tool for researchers wanting to identify disease-causing mutations. Ambry Genetics has extensive experience with exome sequencing in both a research and clinical setting. As early adopters of NGS technology and advanced target enrichment techniques, Ambry’s experience and knowledge is hard to beat.  Ambry was the 3rd Certified Service Provider (CSPro) lab in the world for Illumina NGS sequencing and 1st in the world for Agilent SureSelect Target Enrichment. In 2011, Ambry was the first company to offer CLIA-approved Whole Exome Sequencing for clinical diagnostics.

  Hereditary hemorrhagic telangiectasia (HHT or Osler-Weber-Rendu disease) is an autosomal dominant disorder of blood vessel formation affecting 1/8000-1/10,000 people.  Abnormal direct connections of arteries and veins in larger vessels manifest as arteriovenous malformations (AVMs) most often in the lungs, liver, and brain.   Genetic testing enables: confirmation of diagnosis of HHT in symptomatic individualsdetermination of disease status in at-risk family membersearly detection of AVMsopportunity for management to prevent or minimize complications of HHT

A1-hour discussion of the role both clinical aCGH and exome sequencing play in the optimization of genetic diagnosis. The purpose of this webinar is to discuss the unique roles of microarray and diagnostic exome sequencing in the clinical diagnostic process, while also examining benefits, limitations, and detection rates of these tests.

Amy Clugston, President of SWAN USA, gives us a look into her personal journey with undiagnosed disorders ever since her daughter was born with unexplained physical and developmental challenges. Amy started SWAN for other families facing similar challenges and needs, and has reached the hearts of thousands of families worldwide. Join us as Amy speaks to us about her and her daughter’s own diagnostic odyssey.

An educational webinar in honor of Kidney Cancer Awareness Month.  The webinar reviews recent data on inherited causes of kidney cancer, specific tumor types associated with various kidney cancer syndromes, and appropriate candidates for hereditary kidney cancer testing.