ExomeNext: An Evidence Based Approach to the Right Diagnosis

• By taking a look through the history and evolution of clinical exome sequencing since its launch in 2011, this webinar will demonstrate how Ambry’s family-focused, evidence-based approach has led to a higher diagnostic yield and optimal patient care.  

  During this session, Ambry scientists will highlight a newly published method for linking genes to diseases.  This approach demonstrates the clinical utility of establishing the clinical validity of genes for both diagnostic exome sequencing as well as for the appropriate gene selection for multi-gene panel tests (MGPT) design to provide more accurate diagnoses.

  The clinical validity scoring system removes the ambiguity from gene selection for MGPT and helps us create tests that are both comprehensive and as free from VUSs as possible. Whether Exome or MGPT, all Ambry products are high-quality and based on sound scientific footing.

  Who Should Watch: Geneticsts, Genetic Counselors, Neurologists, Anyone interested in clinical exome sequencing and establishing clinical validity of gene findings.

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Kelly D. F. Hagman, MS, CGC | Presenter

Director, Clinical Genomics

Prior to receiving her Masters in Genetic Counseling in 2004, Kelly Hagman spent several years in a research lab studying DNA mutagenesis. She started her career as a genetic counselor at the Molecular Diagnostic Laboratory at City of Hope, where she continued her involvement in research, most of which focused on Li-Fraumeni Syndrome (LFS). Driven by her interest in new molecular technologies, in 2009 Kelly joined Ambry Genetics to lead the genomic services group where she gained expertise in multiple sequencing platforms and DNA/RNA enrichment techniques. In 2011, she transitioned to the clinical team to lead Ambry's clinical genomics offerings, most notably, diagnostic exome sequencing. Kelly is currently the co-chair of the National Society of Genetic Counselors (NSGC) Genomic Technologies Special Interest Group (SIG). Kelly is also a firm-believer that the best patient care is achieved through open data sharing. She has more than 35 peer-reviewed publications in molecular genetics (view publications) and has been an invited lecturer at several scientific meetings.

Erica Smith, Ph.D. | Presenter

Clinical Genomics Scientist

Erica received her BS at University of California, San Diego, in Animal Physiology and Neuroscience and a PhD at University of California, Irvine in Neurobiology and Behavior, in an Alzheimer’s lab led by Carl Cotman. Her thesis established the molecular response of hippocampal neurons to simultaneous growth signals such as those from Brain Derived Neurotrophic Factor (BDNF) and inflammatory cytokines. Erica then completed post-doctoral research in a blood-brain-barrier lab with Dritan Agalliu, studying an animal model of PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus). She studied the effect of repeated strep throat infections on mouse brains. At Ambry, Erica specializes in evaluating clinical validity, or the evidence linking genes to specific diseases.