Medical Genome Initiative Roadmap & Working Groups

Within the Initiative, Working Groups are established to focus on key topic areas including Analytical Validation, Clinical Utility Measures, Data Management and Infrastructure, Test Interpretation and Reporting and Patient Selection.

The Clinical Utility & Usefulness Measures working group is focused on best practices to assess the clinical utility of clinical WGS for the diagnosis of germline genetic disease, by defining the dimensions of clinical utility and emphasizing objective and validated measures. A focus will be placed on defined measures which are most important to different stakeholders and empiric strategies for measuring each dimension.

Goals: Provide practical guidance for measuring and assessing the clinical utility of WGS. Identify key measurement constructs, indicators, and data collection strategies.

Lead author: Robin Hayeems (SickKids)

Working Group Participants:

  • David Dimmock (Rady Children’s)
  • Shashikant Kulkarni (Baylor Genetics)
  • John Belmont (Genetics & Genomics Services, Inc)
  • Roberto Mendoza (SickKids)
  • David Bick (HudsonAlpha)
  • Robert Green (Broad Institute)
  • Brendan Lanpher (Mayo Clinic)
  • Euan Ashley, Megan Grove (Stanford Medicine)


The Clinical Data Aggregation, Infrastructure & Sharing working group is focused on best practices for the management, sharing and aggregation of clinical WGS data. This topic includes the unique challenges of the management of data infrastructure that enables optimal data usage and sharing within a clinical diagnostic laboratory setting.

Goal: Provide resources and recommendations related to the setting up, management, and storage of clinical WGS data

Lead author: Christian Marshall (SickKids)

Working Group Participants:

  • Matt Holt (HudsonAlpha)
  • Laura Gauthier, Niall Lennon (Broad Institute)
  • Euan Ashley (Stanford Medicine)
  • Christian Marshall, Ryan Yuen, Joe Whitney, Steven Scherer (SickKids)
  • Mathieu Wiepert, Zhiyv Niu (Mayo Clinic)
  • Bryan Lajoie, Alison Coffey (Illumina)
  • John Belmont* (Genetics & Genomics Services, Inc)


The Test Interpretation and Reporting working group is focused on best practices and practical guidance for the analysis and reporting of clinical WGS in the context of germline genetic disease diagnosis. This includes phenotype capture, data annotation, variant filtration and prioritization strategies, content and structure of WGS reports, and WGS reanalysis.

Goal: Describe best practice recommendations related to genome interpretation and reporting: requisition/consent, annotations, analysis, triage and variant curation, reporting, and reanalysis

Lead authors: Christina Austin-Tse (Broad Institute) and Vaidehi Jobanputra (New York Genome Center)


  • Heidi Rehm (Broad Institute)
  • Hutton Kearney, Cherisse Marcou, Sarah Barnett, Nicole Boczek (Mayo Clinic)
  • David Bick (HudsonAlpha)
  • Richard Gibbs, David Murdock, Eric Venner, Shashi Kulkarni (Baylor Genetics)
  • Saurav Guha, Ateeq Rehman, Amanda Thomas-Wilson (NYGC)
  • Kasia Ellsworth (Rady Children’s)
  • Elizabeth Spiteri (Stanford Medicine)
  • Edwin (Ted) Young (SickKids)
  • Denise Perry, Ryan Taft (Illumina)
  • John Belmont* (Genetics & Genomics Services, Inc)

Goal: Offer guidance to clinicians (geneticists and non-geneticists) on which patients or patient groups would benefit most from clinical WGS as a first-tier test. Using a systematic evidence-based review and expert opinion to develop recommendations.

Lead author: Kristen Wigby (Rady Children’s Institute for Genomic Medicine)


  • Greg Costain (SickKids)
  • John Greally, Vaidehi Jobanputra (New York Genome Center)
  • David Bick, Meagan Cochrane (HudsonAlpha)
  • Susan Fernbach (Baylor Genetics)
  • Deanna Brockman (Broad Institute)
  • Caitlin Hale (Stanford Medicine)
  • Ryan Taft (Illumina)
  • John Belmont* (Genetics & Genomics Services, Inc)
  • David Dimmock (Rady Children’s)

Goal: To determine if panels or genomic tests generate more variants of uncertain significance (VUS)

Lead author: TBD

Members: TBD

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