EducateNext: ClassifiLIVE

ClassifiLIVE is a one-hour session that utilizes case-based learning to demonstrate how germline variants are classified in the diagnostic laboratory setting. Each session starts with a brief orientation to an ACMG-based variant classification framework. Three complex cases are selected to exemplify how clinical, computational, and functional data are assessed and then integrated to classify a variant. Cases are presented by a genomic sciences team member and then discussed amongst a panel of PhD scientists and laboratory directors. The session concludes with 10 minutes of Q&A.

Level of Instruction: Intermediate

Learning Objectives:
- Apply an ACMG based evidence framework to the clinical interpretation of germline variants
- Identify disease and gene-specific considerations when classifying germline variants
- Explain the relationship between gene-disease validity and variant classification
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.

Holly LaDuca, MS, CGC | Moderator

Clinical Strategy Manager

Holly LaDuca is a Clinical Strategy Manager at Ambry Genetics, focusing on hereditary cancer. After beginning her career as a community-based cancer genetic counselor, she has spent over 10 years applying her genetic counseling skillset in laboratory and digital health settings. During this time, she has collaborated on 60+ publications. Ms. LaDuca is concurrently pursuing a PhD in Translational Health Science to help bridge gaps between research and practice and to integrate implementation science principles into clinical genetics and precision public health. She also enjoys engaging with genetic counseling students, especially to support thesis projects.

Jennifer Herrera-Mullar, MGC, LCGC, DMA | Presenter

Principal Clinical Scientist

Jeni Herrera-Mullar, MGC, LCGC, DMA, is a Principal Clinical Scientist at Ambry Genetics. As a member of the Gene Team, Jeni specializes in gene-disease relationship assessment and gene characterization, with a focus on hereditary cancer predisposition genes. She has contributed to the development of Ambry frameworks for gene-disease validity and has been involved in publications elucidating the phenotype in novel and established hereditary cancer genes. Jeni is an active participant in multiple professional working groups, including the ClinGen Hereditary Cancer GCEP and Hereditary Gastric Cancer VCEP, and the International Gastric Cancer Linkage Consortium, and she regularly presents at conferences on the importance of gene characterization in diagnostics and patient care.

Nida Karra, PhD | Presenter

Variant Assessment Scientist II

I earned my PhD in Genetics and Developmental Biology from UT Southwestern, where I investigated the molecular mechanisms of mouse eye development. My postdoc was more focused in human disease where I worked on identifying the genetic causes of rare congenital urogenital anomalies in children. I have over five years of industry experience in variant classification and have been at Ambry for more than two. I have a passion for copy number variants and complex genomic structural rearrangements.

Tim Moss, MD/PhD, FACMG | Presenter

Associate Laboratory Director

Dr. Tim Moss is a Clinical and Molecular Geneticist with 15 years clinical experience in rare hereditary and metabolic disease.

Emily Kudalkar, PhD, FACMG | Presenter

Associate Laboratory Director

Dr. Emily Kudalkar, PhD, FACMG, is a board-certified cytogenetic and molecular geneticist currently serving as an Associate Laboratory Director at Ambry Genetics. With a focus on advancing diagnostic capabilities, her current work is centered on identifying and classifying copy number and structural variants through the application of microarray and whole genome sequencing. Her extensive expertise spans diverse areas of clinical genetics, including cytogenetics (cancer and congenital disorders), somatic molecular tumor testing, pharmacogenomics, and rare disease. Dr. Kudalkar's professional experience includes leadership roles in both academic and industrial laboratories. She earned her PhD in Molecular & Cellular Biology from Northwestern University, followed by postdoctoral research at both the University of Washington and the Lab for Molecular Medicine at Harvard University, culminating in the completion of a Laboratory Genetics and Genomics Fellowship at the University of Colorado Anschutz Medical School.

Colin Young, PhD | Presenter

Senior Variant Assessment Scientist

Colin Young received his PhD from the University of Utah in 2018. He joined the oncology variant assessment team at Ambry in 2019, where he is a gene expert on about 20 hereditary cancer predisposition genes. In his role at Ambry, Colin has extensive experience in NGS panel testing, RNA analysis, Del/Dup analysis, exome analysis, and incorporating long-read sequencing data for use in variant interpretation.