AUG 21, 2014 08:45 AM PDT

Genome and exome sequencing in a clinical laboratory

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  • 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 advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very valuable for the diagnosis of rare genetic disorders and a key to a more comprehensive disease treatment. These assays rely heavily on bioinformatics processes, and have unique requirements for implementation and validation., though there are currently limited guidelines for how to handle bioinformatics validation in the clinical lab setting for such complex tests. In this talk, we outline our laboratorys approach to tackling the issues faced in implementing clinical WGES, including methods and techniques to validate the assay and interpret the results. Well also detail our experiences offering WGES in clinical care, including our support of the MedSeq and BabySeq projects that are studying the return of genome and exome sequencing results in adults and newborns, respectively, in both healthy individuals and individuals with disease.

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