The Whole is Greater than the Sum of its Parts: Understanding gene-disease validity for breast cancer genes with Jennifer Herrera-Mullar, MGC, CGC, DMA

• This talk will focus on the evaluation of gene-disease associations (also known as gene-disease validity) for genes potentially implicated in hereditary breast cancer. We will review the topic of gene-disease validity, including background and definitions surrounding this topic. There will be a specific focus on the evaluation of gene-disease associations for breast cancer-associated genes, with an emphasis on the challenges associated with these assessments and the relationship of these assessments to clinical utility.

  Level of Instruction: Intermediate

  

  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.

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

Principal Clinical Scientist, Ambry Genetics

Jeni Herrera-Mullar, MGC, CGC, DMA, is a Principal Clinical Scientist at Ambry Genetics. She is a member of the Gene Team and is involved in the assessment of gene-disease relationships for both newly-described candidate genes and well-established genes with a focus on hereditary cancer. Prior to this role, Jeni worked as a reporting genetic counselor and a Genomic Science Liaison at Ambry Genetics, in addition to practicing clinically as a prenatal and oncology genetic counselor. Jeni is highly interested in the field of gene-disease validity, and specifically its adaptation to common disease such as cancer. She is passionate about research and education in this arena, and is actively involved in research to better characterize the tumor spectrum in novel and established hereditary cancer genes. Jeni is also an active collaborator in continuing to refine the gene-disease associations scoring criteria to better capture the complexities in hereditary cancer such as pleiotropy, phenocopy, and reduced penetrance. She is a member of ClinGen working groups, including the Hereditary Breast, Ovarian, and Pancreatic Cancer VCEP and the Hereditary Cancer GCEP.

Jessica Scott, MGC, CGC | Moderator

Genomic Science Liaison II, Ambry Genetics

Jessica Scott, MGC, CGC is a Genomic Science Liaison at Ambry Genetics. Jessica obtained her undergraduate degree in Biology from Radford University in 2002 and graduated from the University of Maryland Master’s in Genetic Counseling (MGC) Training Program in 2005. She practiced clinically in various genetic counseling subspecialties for over fifteen years with a consistent focus on oncology genetics before joining Ambry. Jessica has an interest in the continued education of genetic counselors; she remains actively engaged in the University of Maryland genetic counseling training program and is a coordinator of Ambry’s Case Café webinar series.