How Can Clinical Validity Assessment of Gene-Disease Associations Aid in Variant Classification? with Deepali Shinde, PhD

• Curating the clinical validity of gene-disease associations is an important first step in the clinical diagnosis and medical management of a patient’s genetic condition. As vast amounts of human genetic data become available through massively parallel sequencing efforts, it is increasingly evident that a single gene can be potentially associated with multiple conditions. Thus, it is essential to assess the phenotypic spectrum associated with variants in a gene and determine whether different molecular mechanisms and/or inheritance patterns underlie this phenotypic variability. In this session, we will explore how standardized assessment of gene-disease associations can aid in determining variant pathogenicity for clinical reporting.

Deepali Shinde, PhD | Presenter

Clinical Genomics Scientist, Ambry Genetics

Dr. Shinde received her Ph.D. in Molecular Biology from the University of Southern California in Los Angeles where her research involved the use of single molecule PCR based technologies for elucidating mutational mechanisms of short tandem repeats in cancer, neurodegenerative disorders, and paternal age-related disorders. Prior to joining the Clinical Genomics team at Ambry Genetics, she was employed as a Senior Scientist in R&D at Applied BioCode in Santa Fe Springs, CA where she provided technical leadership for the development of nucleic acid amplification based infectious disease diagnostic assays for CE and FDA approval. At Ambry, Dr. Shinde works with a group of scientists involved in clinical exome analysis, new disease gene discoveries, gene characterization, variant interpretation, and data sharing.

Brooke Overstreet, MS, CGC | Moderator

Genetic Specialist II, Ambry Genetics

Brooke Overstreet earned her M.S. in Genetic Counseling at the University of Cincinnati and also holds an M.S. in Molecular and Cellular Biology from the University of Arizona. Prior to becoming a genetic specialist at Ambry, she worked as a clinical genetic counselor at Mayo Clinic in Arizona and counseled patients for oncology, neurology, cardiology and healthy exome. Mrs. Overstreet is a member of the National Society of Genetic Counselors (NSGC) and is board certified by the American Board of Genetic Counseling (ABGC).