Misattributed Relationships Identified through Exome Sequencing

Wednesday, December 1, 2021

3:00am PST

1 hour

C.E.U.: 1 Category 1 Contact Hour

P.A.C.E.: 1 Unit

Misattributed parentage is a type of incidental finding that may be discovered through family-based genetic testing such as diagnostic exome sequencing. Identification of findings such as misattributed parentage elicits many ethical challenges for families, clinicians, and laboratories. This webinar will provide an overview of existing guidelines for discovery and disclosure of misattributed parentage and review the data on one clinical laboratory’s experience with identification and reporting of misattributed parentage discovered through trio diagnostic exome sequencing.

Level of Instruction: Basic

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Kelly D.F. Hagman

Sr. Director, Clinical Diagnostics, Ambry Genetics

Kelly Hagman, MS, CGC, is the VP of Medical Affairs at Ambry Genetics. Prior to Kelly’s 20 year career in molecular diagnostic laboratories, she spent several years in a research lab studying DNA mutagenesis and sequencing technologies. She started her career as a genetic counselor at the Molecular Diagnostic Laboratory at City of Hope, where […]

Kelly Hagman is senior director of clinical diagnostics at Ambry Genetics. Prior to Kelly’s 17 year career in molecular diagnostic laboratories, she spent several years in a research lab studying DNA mutagenesis and sequencing technologies. She started her career as a genetic counselor at the Molecular Diagnostic Laboratory at City of Hope, where she continued her involvement in research and is the corresponding author on one of the most highly referenced Li-Fraumeni Syndrome (LFS) papers (Gonzalez et al, JCO 2009 PMID: 18632684). Driven by her passion for new and emerging molecular technologies, in 2009 Kelly joined Ambry Genetics as the Director of the Genomic Services Division where she gained expertise in multiple sequencing platforms and DNA/RNA enrichment techniques. In 2011, she was chosen to lead the launch the very first commercially-offered diagnostic exome sequencing test on the market. Kelly currently directs Ambry’s rare disease reporting. Her passion for molecular technologies led her to co-found NSGC’s Genomic Technology Special Interest Group (SIG). She was selected as NSGC’s liaison to the Association for Molecular (AMP) for their NGS Germline Variant Confirmation working group. Kelly is also a firm believer that the best patient care is achieved through open data sharing. She has more than 50 peer-reviewed publications in molecular genetics and genomics, most focusing on exome sequencing.

(https://www.ncbi.nlm.nih.gov/sites/myncbi/1rGP7EbZoVMAS/bibliography/48799477/public/?sort=date&direction=ascending)

Julie Stefka

Genetic Counseling Graduate Student, Baylor College of Medicine

Julie is a second-year genetic counseling student at Baylor College of Medicine, graduating in May 2022. Previously, she attended the University of Nevada, Reno where she obtained degrees in neuroscience and Spanish. After receiving her undergraduate degrees, Julie began her career as a Clinical Research Intern at Ambry Genetics in 2016. She later joined the Clinical Assistant team where she worked for four years. During her time on the Clinical Assistant team, she primarily focused on supporting the exome reporting team and served as a supervisor for two years. Through her time at Ambry Genetics and Baylor College of Medicine she has developed interests in genetic counseling research, exome sequencing, pediatric genetic counseling, ethics, and variant interpretation.

Emily Wiseman

Genomic Science Liaison, Ambry Genetics

Emily Wiseman is a specialty Genomic Science Liaison covering the Midwest region. Emily received her Masters of Science in Human Genetics and Genetic Counseling from Keck Graduate Institute, and holds a MEd in Human Relations and a Bachelors of Science in Biology and Psychological Sciences from Northern Arizona University. Prior to joining Ambry, Emily worked […]