June 21st 2018 - 9am-12.30pm - Hyatt Regency Cambridge - 575 Memorial Dr.

Next Generation Sequencing: Addressing Challenges around Clinical Translation

The adoption of NGS into the clinic has been limited by challenges that have emerged with the growing complexity of genomic information and bioinformatics. The lack of standardisation of the quality and quantity of clinical samples, lack of appropriate tools, genomic counselling services and reporting of NGS test results by healthcare professionals, continues to impede the utilisation of NGS in the clinic. Successful clinical integration of NGS requires infrastructure, including electronic health records that incorporate other clinically-relevant information, and bioinformatics tools to facilitate data interpretation in the clinic. 


  • Aaron Thorner, Associate Director, Center for Cancer Genome Discovery (CCGD), Dana-Farber Cancer Institute
  • Shannon Manzi, Director, Clinical Pharmacogenomics Service, Division of Genetics & Genomics, Boston Children’s Hospital
  • Jochen Lennerz, Associate Director, Center for Integrated Diagnostics, Massachusetts General Hospital
  • Stuart Brown, Associate Professor, New York School of Medicine
  • Matthew Lebo, Director of Bioinformatics, Harvard Medical School
  • Lynette Sholl, Pathologist, Brigham and Women's Hospital
  • Marianne Boswell, CEO, Boston Lighthouse
  • Enrique Neumann, Product and Application Manager, Genomics, Tecan
  • Christine Lu, Associate Professor, Department of Population Medicine, Harvard Medical School
  • Vibhor Gupta, Director, Pangaea Group
  • Matt Stachler, Associate Pathologist, Brigham and Women's Hospital
  • Matthew Ducar, Associate Director, Computational Bioinformatics, DanaFarber Cancer Institute
  • Lakshman Ramamurthy, Global Regulatory Lead, Foundation Medicine
  • David Smith, Professor of Laboratory Medicine and Pathology, Mayo Clinic
  • Annerose Berndt, Director of the Genome Center, Institute for Precision Medicine
  • Monkol Lek, Assistant Professor, Department of Genetics, Yale School of Medicine
  • Arezou Ghazani, Medical Geneticist, Dana-Farber Cancer Institute
  • Ted Laetsch, Faculty Member in the Department of Paediatrics, University of Texas Southwestern
  • Vaidehi Jobanputra, Director, Molecular Diagnostics, New York Genome Center   
  • Laura Rasmussen-Torvik, Assistant Professor, Department of Preventive Medicine, Northwestern University Feinberg School of Medicine
  • Andrew Barry, Product Marketing Manager, Target Enrichment, New England Biolabs
  • Mike Furgason, Bioinformatician, Division of Biomedical Informatics, Cincinati Children's Hospital
  • José-Mario Capo-Chichi, Assistant Professor, Laboratory Medicine Program, University Health Network, University of Toronto

Points of Discussion:

  • What would be the immediate and long-term impact of NGS in the clinic, in terms of speed and accuracy of diagnosis, personalised medical care etc.?
  • How can we ensure a standard of quality for individual tests to certify that an assay is useful and warrants funding from payers?
  • Considerations for the errors in testing and a potential need for Sanger confirmation. 
  • How to overcome knowledge gaps of clinicians around limitations of different tests, secondary findings and recognising genetic causes. 
  • Considerations when creating standards for clinical reporting? For example, communication of NGS test results by healthcare professionals.

Meeting Output:

  • Actions to overcome the barriers impeding clinical translation of NGS.
  • A review of coverage metrics, types of variant and Sanger confirmation data currently being used.
  • A road map to facilitate clinical translation of NGS.
  • A wish list of new tools, technologies and infrastructure needed for integration of NGS into the clinic. 
  • Considerations for the establishment of standards for the quality of tests and clinical reporting.