JUN 20, 2018 7:30 AM PDT

Keynote Presentation: Supporting Precision Medicine and Clinical Research at Scale - Challenges and Opportunities

Speaker
  • Senior Director of Translational Genomics and Product Development, Institute Scientist, Broad Institute of MIT and Harvard
    Biography
      Niall J. Lennon, PhD, is Senior Director of Translational Genomics and Product Development with the Genomics Platform at the Broad Institute of MIT & Harvard. Niall has been working on NGS applications and technology development at the Broad for over 11 years. Most recently, Dr. Lennon oversaw the creation, certification and launch of a CLIA certified & CAP accredited laboratory within the Broad. He led the efforts to validate and implement a clinical Whole Exome sequencing test for both germline and somatic samples.
      Niall is currently an Adjunct Assistant Professor of Biomedical Engineering at Tufts University. Niall has received a Black Belt in Six Sigma for his work on process design and optimization. He also holds an executive certificate in Management and Leadership from the MIT Sloan School of Management. Niall earned a PhD in Pharmacology, and a BSc from University College Dublin, Ireland.

    Abstract

    Precision medicine based on molecular profiling is moving from the realm of clinical utility studies towards standard of care. There remain, however, significant technological and implementation challenges that need to be addressed to ensure the widespread access to high complexity tests. These challenges include the provision of high quality, scalable assays that can be offered in clinically meaningful timeframes and at a cost that does not limit adoption. In addition, the computational and analytical environments must exist to host, compute, and deliver the increasingly large data sets created for each patient. There needs to be agreement on best practices and specifications for performance of secondary analysis tools (variant callers) across all classes of clinically meaningful variant categories. And, there needs to be education and training of a large network of variant review scientists, clinical geneticists, and molecular pathologists on variant interpretation and classification. This presentation will contemplate these challenges, highlight areas where progress has been made, and where more has yet to be done. 


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