Falling Between the Cracks: The Challenge of Classifying Hypomorphic Variants with Marcy Richardson, PhD

As the field of genetics continues to grow, so do the amounts of data that can be used in variant interpretation. As we approach a critical mass of data, it is becoming more apparent that the theory that each variant has a unique risk is, in fact, a reality. In some cases, we can discern or infer when a variant harbors characteristics that are neither like a high-penetrance pathogenic variant nor like a benign variant…rather somewhere in between. In this talk we will look at cancer predisposition genes to exemplify the concept of hypomorphic variants and how they can be identified using clinical and/or functional data.

Level of Instruction: Intermediate

Marcy Richardson, PhD | Presenter

Manager, Clinical Research, Ambry Genetics

Dr. Marcy Richardson graduated from Georgetown University with her PhD in Tumor Biology in 2009. Dr. Richardson then joined the University of California, San Diego as post-doctoral fellow researching epigenetics. She began working as a Variant Assessment Scientist at Ambry Genetics in 2015 where she focused on developing variant classification guidelines and investigating complex variants in cancer predisposition genes. Currently, as Manager of Clinical Research and Collaborations, Dr. Richardson leads a team that is focused on the analysis and dissemination of genetic data to advance science and medicine. In this role, she guides both independent research and fosters collaborations around the globe. Dr. Richardson participates in and has a leadership role in several expert panels including ENIGMA, GA4GH, and the BRCA1/2 and APC ClinGen Variant Curation Expert Panels (VCEPs).

Shabnam Asgari, MS, CGC | Moderator

Genomic Science Liaison, Ambry Genetics

Shabnam Asgari joined Ambry in 2019 as the Oncology Genomic Science Liaison for the Southern California territory. She previously worked as a clinical genetic counselor at the High-Risk Cancer Genetics Program at the Perlmutter Cancer Center in New York. In her current role, she serves as a clinical liaison for the field team to educate health care providers and key opinion leaders on genetic testing and genomic medicine. She is also a program coordinator and student supervisor for Ambry’s Genomic Science Liaison industry rotation. Shabnam received her Bachelors of Science degree in Biology with a minor in psychology from the University of Colorado, Denver. She earned her Masters of Science degree in Genetic Counseling from the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College and is certified by the American Board of Genetic Counseling.