Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine Article Swipe

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Robert C. Green , Katrina A.B. Goddard , Gail P. Jarvik , Laura M. Amendola , Paul S. Appelbaum , Jonathan S. Berg , Barbara A. Bernhardt , Leslie G. Biesecker , Sawona Biswas , Carrie L. Blout Zawatsky , Kevin M. Bowling , Kyle B. Brothers , Wylie Burke , Charlisse Caga-Anan , Arul M. Chinnaiyan , Wendy K. Chung , Ellen Wright Clayton , Gregory M. Cooper , Kelly M. East , James P. Evans , Stephanie M. Fullerton , Levi A. Garraway , Jeremy R. Garrett , Stacy W. Gray , Gail E. Henderson , Lucia A. Hindorff , Ingrid A. Holm , Michelle Lewis , Carolyn M. Hutter , Pasi A. Jänne , Steven Joffe , David Kaufman , Bartha Maria Knoppers , Barbara A. Koenig , Ian D. Krantz , Teri A. Manolio , Laurence B. McCullough , Jean E. McEwen , Amy L. McGuire , Donna M. Muzny , Richard M. Myers , Deborah A. Nickerson , Jeffrey Ou , Donald W. Parsons , Gloria M. Petersen , Sharon E. Plon , Heidi L. Rehm , J. Scott Roberts , Dan R. Robinson , Joseph S Salama , Sarah Scollon , Richard R. Sharp , Brian H. Shirts , Nancy B. Spinner , Holly K. Tabor , Peter Tarczy‐Hornoch , David L. Veenstra , Nikhil Wagle , Karen E. Weck , Benjamin S. Wilfond , Kirk C. Wilhelmsen , Susan M. Wolf , Julia Wynn , Joon‐Ho Yu , Michelle D. Amaral , Samuel Aronson , Shubhangi Arora , Danielle R. Azzariti , Gregory S. Barsh , Bebin , Barbara B. Biesecker , Brian Brown , Amber Burt , Peter H. Byers , Muge G. Calikoglu , Sara J. Carlson , Nizar Chahin , Kurt D. Christensen , Allison L. Cirino , Laura K. Conlin , Gregory M. Cooper , David R. Crosslin , James V. Davis , Kelly Cue Davis , Matthew A. Deardorff , Batsal Devkota , Raymond De Vries , Pamela M. Diamond , Michael O. Dorschner , Noreen P. Dugan , Dmitry Dukhovny , Matthew C. Dulik , Kelly M. East , E. Andres Rivera-Munoz , Barbara J. Evans , Jessica N. Everett , Nicole Exe , Zheng Fan , Lindsay Z. Feuerman , Kelly K. Filipski ·

YOU? · · 2016 · Open Access · · DOI: https://doi.org/10.17615/2rcm-vp54

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

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Medical Genetics

Personalized Medicine

Computational Biology

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Genomic medicine Genomic sequencing Exploratory research Precision medicine Computational biology Medicine Biology Genetics Genome Sociology Pathology Gene Anthropology

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Type: article
Language: en
Landing Page: https://doi.org/10.17615/2rcm-vp54
PDF: https://doi.org/10.17615/2rcm-vp54
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DOI: https://doi.org/10.17615/2rcm-vp54

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Title: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

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Publication year: 2016

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Authors: Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik, Laura M. Amendola, Paul S. Appelbaum, Jonathan S. Berg, Barbara A. Bernhardt, Leslie G. Biesecker, Sawona Biswas, Carrie L. Blout Zawatsky, Kevin M. Bowling, Kyle B. Brothers, Wylie Burke, Charlisse Caga-Anan, Arul M. Chinnaiyan, Wendy K. Chung, Ellen Wright Clayton, Gregory M. Cooper, Kelly M. East, James P. Evans, Stephanie M. Fullerton, Levi A. Garraway, Jeremy R. Garrett, Stacy W. Gray, Gail E. Henderson, Lucia A. Hindorff, Ingrid A. Holm, Michelle Lewis, Carolyn M. Hutter, Pasi A. Jänne, Steven Joffe, David Kaufman, Bartha Maria Knoppers, Barbara A. Koenig, Ian D. Krantz, Teri A. Manolio, Laurence B. McCullough, Jean E. McEwen, Amy L. McGuire, Donna M. Muzny, Richard M. Myers, Deborah A. Nickerson, Jeffrey Ou, Donald W. Parsons, Gloria M. Petersen, Sharon E. Plon, Heidi L. Rehm, J. Scott Roberts, Dan R. Robinson, Joseph S Salama, Sarah Scollon, Richard R. Sharp, Brian H. Shirts, Nancy B. Spinner, Holly K. Tabor, Peter Tarczy‐Hornoch, David L. Veenstra, Nikhil Wagle, Karen E. Weck, Benjamin S. Wilfond, Kirk C. Wilhelmsen, Susan M. Wolf, Julia Wynn, Joon‐Ho Yu, Michelle D. Amaral, Samuel Aronson, Shubhangi Arora, Danielle R. Azzariti, Gregory S. Barsh, Bebin, Barbara B. Biesecker, Brian Brown, Amber Burt, Peter H. Byers, Muge G. Calikoglu, Sara J. Carlson, Nizar Chahin, Kurt D. Christensen, Allison L. Cirino, Laura K. Conlin, Gregory M. Cooper, David R. Crosslin, James V. Davis, Kelly Cue Davis, Matthew A. Deardorff, Batsal Devkota, Raymond De Vries, Pamela M. Diamond, Michael O. Dorschner, Noreen P. Dugan, Dmitry Dukhovny, Matthew C. Dulik, Kelly M. East, E. Andres Rivera-Munoz, Barbara J. Evans, Jessica N. Everett, Nicole Exe, Zheng Fan, Lindsay Z. Feuerman, Kelly K. Filipski

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Concepts: Genomic medicine, Genomic sequencing, Exploratory research, Precision medicine, Computational biology, Medicine, Biology, Genetics, Genome, Sociology, Pathology, Gene, Anthropology

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