1 Purpose & Structure Explore, within an active clinical setting, the application of genomic sequence data to the care of patients. Generation of genomic sequence data, Interpretation and translation of data for the physician Communication to the patient Three (3) Project Teams per Site Practice: clinical setting being studied and what medical outcomes measured Lab: sequencing and reporting of genome-scale results to clinicians/EMR ELSI: ethical and psychosocial implications of bringing broad genomic data into the clinic Plon: Overview of CSER, Fall 2012
2 The Big Questions What are the best practices in moving whole genome sequencing, using Next Generation technologies, from medical science to the clinical practice? What are the patient characteristics that signal potential utility (or lack thereof) for applying genome-scale sequencing? What are the best approaches to analyzing data? Are there special considerations in different populations? How should relevant information be best represented in the EMR? What criteria are most useful in guiding which results should be returned (and how) to the patient and physician? How should we deal with the plethora of highly heterogeneous “non-target” data generated when performing sequencing? Evans: Overview of CSER, Fall 2013 and NHGRI staff
3 Working Groups & Steering Committees Leadership CSER Steering Committee Gail Jarvik CSER Coordinating Center Lucia Hindorff ELSI Steering Committee Barbara Koenig Gail Henderson Actionable Variants & ROR Wendy Chung Electronic Medical Records Brian Shirts Genetic Counselors Sarah Scollon Julia Wynn Informed Consent & Governance Paul Appelbaum Joon Ho-Yu Pediatrics Kyle Brothers Ben Wilfond Outcomes & Measures Stacy Gray David Veenstra Sequencing Standards Bradford Powell Will Salerno Practitioner Education Sharon Plon Kelly East As of 01/05/2017
4 Subcontracts not reflected on this map.
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7 CSER Site (U-Award) Patient Focus Baylor College of MedicineWES in tumor/germline childhood cancers Brigham & Women’s Hospital WGS in adults, healthy and w. cardiomyopathy Children’s Hospital of Philadelphia WES/WGS in children w. pediatric disease Dana-Farber Cancer Institute WES in tumor/germline in lung, colorectal cancers HudsonAlpha Institute WES in children with intellectual, developmental disability Kaiser Permanente WGS in preconception carrier screening University of Michigan WES in adults & children with advanced rare cancer University of North Carolina WES in adults & children with genetic disease University of Washington WES in adults with colorectal cancer ClinSeq (NHGRI Intramural) WGS in healthy adults and adults with heart disease Evans: Overview of CSER, Fall 2013
8 CSER Site (U-Award) PI(s) Baylor College of MedicineSharon Plon & Will Parsons Brigham & Women’s Hospital Robert Green Children’s Hospital of Philadelphia Ian Krantz Dana-Farber Cancer Institute Pasi Janne & Eliezer van Allen HudsonAlpha Institute Greg Cooper Kaiser Permanente Katrina Goddard & Ben Wilfond University of Michigan Arul Chinnaiyan, Kenneth Pienta, Scott Roberts University of North Carolina Jim Evans, Jonathan Berg & Gail Henderson University of Washington Gail Jarvik ClinSeq (NHGRI Intramural) Leslie Biesecker Coordinating Center (UW) Gail Jarvik, Wylie Burke, Debbie Nickerson, & Peter Tarczy-Hornoch RFAs --- GRANT NUMBERS Baylor College of Medicine | Sharon Plon & Will Parsons U01 HG006485 Brigham & Women’s Hospital | Robert Green U01 HG006500 Children’s Hospital of Philadelphia | Ian Krantz & Nancy Spinner U01 HG006546 Dana-Farber Cancer Institute | Pasi Janne & Eliezer van Allen U01 HG006492 HudsonAlpha Institute | Greg Cooper UM1 HG007301 Kaiser Permanente | Katrina Goddard & Ben Wilfond UM1 HG007292 University of Michigan | Arul Chinnaiyan UM1 HG006508 University of North Carolina | Jim Evans U01 HG006487 University of Washington | Gail Jarvik U01 HG006507 Coordinating Center (UW) | Gail Jarvik U01 HG007307
9 CSER Site (R-Award) PI(s) Boston Children’s Hospital Ingrid HolmColumbia University Paul Appelbaum Wendy Chung Children’s Mercy Hospital Jeremy Garrett Johns Hopkins University Michelle Lewis Mayo Clinic Rich Sharp Seattle Children’s Hospital Holly Tabor UC - San Francisco, Mayo College of Medicine, & University of Minnesota Barbara Koenig, Gloria Peterson, & Susan Wolf Vanderbilt University & McGill University Ellen Clayton & Bartha Knoppers Coordinating Center (UW) Gail Jarvik, Wylie Burke, Debbie Nickerson, & Peter Tarczy-Hornoch RFAs --- GRANT NUMBERS Boston Children’s Hospital | Ingrid Holm R01 HG006615 Columbia University | Paul Appelbaum R21 HG006596 Columbia University | Wendy Chung R01 HG006600 Children’s Mercy Hospital | Jeremy Garrett R21 HG006613 Johns Hopkins University | Michelle Lewis R21 HG006594 Mayo Clinic | Rich Sharp R01 HG004500 Seattle Children’s Hospital | Holly Tabor R01 HG006618 UC - San Francisco, Mayo College of Medicine, & University of Minnesota | Barbara Koenig, Gloria Peterson, & Susan Wolf R01 CA154517 Vanderbilt University & McGill University | Ellen Clayton & Bartha Knoppers R21 HG006612 Coordinating Center (UW) | Gail Jarvik U01 HG007307