AUG 21, 2013 8:00 AM PDT

Implementation of genome sequencing in a clinical diagnostic laboratory

C.E. Credits: CE
Speaker
  • Instructor of Pathology, BWH and Harvard Medical School, Assistant Laboratory Director and Senior IS Domain Specialist Laboratory for Molecular Medicine, Partners HealthCare Center for Perso
    BIOGRAPHY

Abstract

With the technical costs of genome sequencing continuously dropping, it is now feasible to offer this assay in a clinical context. Empirical evidence suggests that genome and exome sequencing may lead to a diagnosis in 25-30% of affected individuals, with even current costs of the sequencing being offset by savings in patient care management. Furthermore, the nature of the test allows for the identification of incidental findings in both affected and healthy individuals that may lead to further cost savings. In this talk, we'll detail the issues and complexities that arise from implementing genome sequencing as a clinical service, including methods and techniques to validate the assay and interpret the results. Furthermore we'll discuss approaches to create reports that return both results for the primary indication and for incidental findings, the former of which was used as the clinical report for the winning team of the recent CLARITY Challenge. We'll also detail our experiences offering genome sequencing in clinical care, including our support of the MedSeq project that is studying the return of patient genome sequence data to subspecialists and primary care physicians.


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AUG 21, 2013 8:00 AM PDT

Implementation of genome sequencing in a clinical diagnostic laboratory

C.E. Credits: CE


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