MAR 22, 2016 11:30 AM PDT

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

  • Heidi L. Rehm, PhD, FACMG

    Director, Genomic Medicine Unit, Center for Genomic Medicine, MGH, Chief Genomics Officer, Department of Medicine, MGH, Co-Director, Medical and Population Genetics, Broad Institute; Medical Director, Broad Clinical Laboratory, Professor of Pathology, Harvard Medical School

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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