A scalable approach to resolving variants of uncertain significance with Lea Starita, PhD

• Experimental functional data and computational predictions are the only two scalable sources of evidence for variant classification. However, use of experimental and predictive data in the clinic has been limited; experimental data is lacking for most genes, both data sources are difficult to translate into clinical evidence, and there is limited dissemination infrastructure. The NHGRI's Impact of Genomic Variation on Function consortium overcame these barriers by building production-scale multiplexed experimental platforms, developing improved calibration methods for experimental and predictive data and creating interactive web resources to deliver this calibrated evidence to clinicians.

  

  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.

Lea Starita, PhD | Presenter

Associate Professor of Genome Sciences at the University of Washington

Lea is an Assistant Professor of Genome Sciences at the University of Washington and co-director of the Advanced Technology Lab at the Brotman Baty Institute for Precision Medicine. Her goal is to eliminate VUS and to make genomic information more informative, equitable and impactful by delivering high quality functional data that have been systematically analyzed and packaged for rapid uptake to clinicians and industry. To achieve that goal, Lea's research program has three main directions: 1) developing new multiplexed assays for variant effect (MAVE) technology to access to new and more informative phenotypes, 2) scaling existing MAVEs for broad application, and 3) breaking down barriers to the systematic application of functional data to clinical variant interpretation workflows.

Katherine Crawford, MS, CGC | Moderator

Clinical Science Liaison at Ambry Genetics

Katie is a Clinical Science Liaison at Ambry Genetics working with oncology, rare disease, and exome. She has previously worked clinically at Women & Infant's Hospital of Rhode Island for over five years as an oncology genetic counselor. She is a graduate of the Arcadia University Genetic Counseling Program and has numerous scientific publications in the fields of oncology, neurology, epidemiology, and psychiatry.