MAR 22, 2016 11:30 AM PDT

Your New Best Friend: Building a Relationship with the Genetics Laboratory

  • Chief Laboratory Director, Partners Laboratory for Molecular Medicine, Medical Director, Broad Institute Clinical Research Sequencing Platform, Associate Professor of Pathology, Brigham & Wom
      Dr. Rehm is a board-certified clinical molecular geneticist and genomic medicine researcher. She is the Chief Laboratory Director at the Partners Laboratory for Molecular Medicine, the Medical Director of the Broad Institute Clinical Research Sequencing Platform, and Associate Professor of Pathology at Brigham & Women's Hospital and Harvard Medical School. Both of her clinical labs focus on the rapid translation of new genetic discoveries into clinical tests and bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use.

    This session will give examples of the types of genetic tests that are most often ordered and what those tests are generally able to tell the physician and patient. The speakers will walk through the typical processes from sample collection to receipt of a report as well as typical follow-up of results. The types of specimens and information typically needed to order a genetic test will be described. The methods used in the laboratory to perform the genetic tests will be explained as well as the types of results that are found. Example genetic test reports and common vocabulary used will be shown and explained including variant interpretation terms such as VUS, pathogenic, and benign. Examples of how the genetic test report may be used to guide care will be provided. The limitations of testing will be explained including current limitations in the interpretation of genetic results. Approaches that physicians, patients and laboratories can take to improve test results and interpretations will also be presented with examples of how these approaches help individual patients.

    Learning Objectives:
    • Describe the types of genetic testing typically performed and what they can and cannot tell you.
    • Read and interpret a typical genetic/genomic test report and understand the role of the patient and physician in helping improve test results

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