AUG 21, 2013 08:00 AM PDT

Implementation of genome sequencing in a clinical diagnostic laboratory

  • 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
      Matthew Lebo is a trained computational biologist and ABMG-certified clinical molecular geneticist whose work focuses on using statistical and algorithmic approaches to analyze high-throughput data and to bridge genetics with computational and IT systems. Dr. Lebo is currently an Instructor of Pathology at Harvard Medical School and Brigham and Woman's Hospital, where he is developing pipelines to implement whole-genome sequencing data as a clinical test, including methods to analyze, interpret, and report identified genetic variation. Dr. Lebo serves as an Assistant Laboratory Director at the Laboratory for Molecular Medicine (LMM) and as a Senior IS Domain Specialist, both within the Partners Center for Personalized Genetic Medicine (PCPGM). As a director in a clinical diagnostics laboratory, he is responsible for the interpretation and reporting of large gene panel tests - with a special focus in cardiomyopathy - and the development of next-generation sequencing tests, including clinical genome/exome sequencing. As a member of the IT team at PCPGM, Dr. Lebo also works on the development of GeneInsight Suite, an innovative software platform for molecular laboratories, clinics, and EHR systems that manages variant, gene, and disease annotations and the integration of that information into patient reports.


    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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