Variant Classification Webinar Series: Piecing Together the Puzzle: Behind the Sciences of Variant Classification (November 2015)
- Gathering the Pieces: Tools for Variant Classification – View Recording
- Speaker: Wendy Chung, MD, PhD
- This webinar covered an overview of the GeneDx processes, variant nomenclature, and factors to consider in variant classification.
- Putting the Pieces Together: Applying the ACMG Guidelines to Variant Interpretation – View Recording
- Speakers: Wendy Chung, MD, PhD; Leah Williams, MS, CGC; Rachel Nusbaum, MS, CGC
- This webinar covered a review of the ACMG guidelines and patient cases.
To view the Questions and Answers from both webinars in this series click here.
Meet our Speakers:
Wendy Chung, MD, PhD
Former Chief Scientific Officer
Dr. Chung is an Assistant Professor of Pediatrics at Columbia University. She directs research programs in human genetics of complex traits such as obesity, diabetes, breast cancer, and congenital heart disease. Clinically, she directs programs in risk assessment for oncogenetics, cardiomyopathy, arrhythmias, and diabetes and develops novel molecular diagnostic methods to improve genetic testing including preimplantation genetic diagnosis. Dr. Chung was a Resident in Pediatrics and a Fellow in Medical Genetics and Molecular Genetics at Columbia Presbyterian Medical Center, NY. She is the recipient of the American Academy of Pediatrics Young Investigator Award and the Doris Duke Career Development Award. Dr. Chung is also a reviewer for several journals and is on the medical advisory boards of the Simons Foundation and Children’s Cardiomyopathy Foundation. She is board certified in clinical and molecular genetics.
Leah Williams, MS, CGC
Assistant Director, Genetic Counseling Services
Leah is an assistant director of genetic counseling services at GeneDx. She joined GeneDx in 2009 and has been involved in report writing, customer service, and new test development in the cardiovascular department over the last 6 years. Leah developed the remote genetic counseling workforce at GeneDx, and has coordinated efforts in recruitment and training of new GC hires. Her other professional interests include management skill development for genetic counselors, and the emerging roles of genetic counselors in laboratory and other industry settings. Leah is a member of the PSS development working group and the CEU review subcommittees of NSGC.
Rachel Nusbaum, MS, CGC
Lab Genetic Counselor
Rachel is a board-certified genetic counselor with over ten years of extensive clinical, research and education experience in cancer genetics. She is an Adjunct Assistant Professor in the Department of Health, Behavior and Society at Johns Hopkins Bloomberg School of Public Health. Rachel is the course instructor for Cancer Genetics at The Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Training Program. Her peer-reviewed publications focus on genetic counseling and testing in newly diagnosed cancer patients, novel service delivery models of genetic counseling, and translational genomic medicine. Prior to joining GeneDx in December 2013, she served as a cancer genetic counselor for Georgetown University’s Lombardi Comprehensive Cancer Center, where she was a Research Instructor. Rachel holds a Master of Science in Genetic Counseling from the University of Pittsburgh and a Bachelor of Science in Integrated Science and Technology from James Madison University.