The Evolving Landscape of Gene-Disease Validity Curation and its Impact on Clinical Utility with Jeni Herrera-Mullar, MGC, CGC, DMA

• This webinar will explore the historical timeline of gene-disease validity (GDV) curation, describing the development and refinement of GDV frameworks over time as knowledge about genetic variation in human disease has evolved. We will review the use of a GDV framework in a commercial laboratory that has been adapted to curate genes associated with common and/or lower penetrance diseases such as hereditary cancer. Trends in how GDV scores change over time and the impact of these changes on clinical utility will be examined, with specific gene examples to illustrate these concepts.
  
  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 at 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 genes and well-established genes with a focus on hereditary cancer. Prior to this role, Jeni worked as an oncology 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 curation and its adaptation to common diseases such as cancer. She is passionate about research and education in this arena and has been involved in multiple publications to better characterize the phenotypic 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.

Margo Gallegos, MS, CGC | Moderator

Specialty Genomic Science Liaison at Ambry Genetics

Margo Gallegos joined Ambry Genetics in 2020 as the Specialty Genomic Science Liaison for the Northeast United States territory. She previously worked as a pediatric genetic counselor at Children’s National Medical Center in Washington, D.C, and an oncology genetic counselor at Anne Arundel Medical Center in Annapolis, MD. Her volunteer interests include public policy and licensure of genetic counselors both at the state and federal level. Margo received her Bachelors of Science degree in Cell Biology and Genetics from University of Maryland, College Park. She earned her Masters of Science degree in Genetic Counseling from University of South Carolina School of Medicine and is certified by the American Board of Genetic Counseling.