Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
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, Kevin M Bowling, Kyle B Brothers, Wylie Burke, Charlisse F Caga-Anan, Arul M Chinnaiyan, Wendy K Chung, Ellen W Clayton, Gregory M Cooper, Kelly 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 Huckaby Lewis, Carolyn M Hutter, Pasi A Janne, Steven Joffe, David Kaufman, Bartha M Knoppers, Barbara A Koenig, Ian D Krantz, Teri A Manolio, Laurence McCullough, Jean McEwen, Amy McGuire, Donna 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 Robinson, Joseph S Salama, Sarah Scollon, Richard R Sharp, Brian Shirts, Nancy B Spinner, Holly K Tabor, Peter Tarczy-Hornoch, David L Veenstra, Nikhil Wagle, Karen Weck, Benjamin S Wilfond, Kirk Wilhelmsen, Susan M Wolf, Julia Wynn, Joon-Ho Yu, CSER Consortium, Michelle Amaral, Laura Amendola, Paul S Appelbaum, Samuel J Aronson, Shubhangi Arora, Danielle R Azzariti, Greg S Barsh, E M Bebin, Barbara B Biesecker, Leslie G Biesecker, Sawona Biswas, Carrie L Blout, Kevin M Bowling, Kyle B Brothers, Brian L Brown, Amber A Burt, Peter H Byers, Charlisse F Caga-Anan, Muge G Calikoglu, Sara J Carlson, Nizar Chahin, Arul M Chinnaiyan, Kurt D Christensen, Wendy Chung, Allison L Cirino, Ellen Clayton, Laura K Conlin, Greg M Cooper, David R Crosslin, James V Davis, Kelly Davis, Matthew A Deardorff, Batsal Devkota, Raymond De Vries, Pamela Diamond, Michael O Dorschner, Noreen P Dugan, Dmitry Dukhovny, Matthew C Dulik, Kelly M East, Edgar A Rivera-Munoz, Barbara Evans, James P Evans, Jessica Everett, Nicole Exe, Zheng Fan, Lindsay Z Feuerman, Kelly Filipski, Candice R Finnila, Kristen Fishler, Stephanie M Fullerton, Bob Ghrundmeier, Karen Giles, Marian J Gilmore, Zahra S Girnary, Katrina Goddard, Steven Gonsalves, Adam S Gordon, Michele C Gornick, William M Grady, David E Gray, Stacy W Gray, Robert Green, Robert S Greenwood, Amanda M Gutierrez, Paul Han, Ragan Hart, Patrick Heagerty, Gail E Henderson, Naomi Hensman, Susan M Hiatt, Patricia Himes, Lucia A Hindorff, Fuki M Hisama, Carolyn Y Ho, Lily B Hoffman-Andrews, Ingrid A Holm, Celine Hong, Martha J Horike-Pyne, Sara Hull, Carolyn M Hutter, Seema Jamal, Gail P Jarvik, Brian C Jensen, Steve Joffe, Jennifer Johnston, Dean Karavite, Tia L Kauffman, Dave Kaufman, Whitley Kelley, Jerry H Kim, Christine Kirby, William Klein, Bartha Knoppers, Barbara A Koenig, Sek Won Kong, Ian Krantz, Joel B Krier, Neil E Lamb, Michele P Lambert, Lan Q Le, Matthew S Lebo, Alexander Lee, Kaitlyn B Lee, Niall Lennon, Michael C Leo, Kathleen A Leppig, Katie Lewis, Michelle Lewis, Neal I Lindeman, Nicole Lockhart, Bob Lonigro, Edward J Lose, Philip J Lupo, Laura Lyman Rodriguez, Frances Lynch, Kalotina Machini, Calum MacRae, Teri A Manolio, Daniel S Marchuk, Josue N Martinez, Aaron Masino, Laurence McCullough, Jean McEwen, Amy McGuire, Heather M McLaughlin, Carmit McMullen, Piotr A Mieczkowski, Jeff Miller, Victoria A Miller, Rajen Mody, Sean D Mooney, Elizabeth G Moore, Elissa Morris, Michael Murray, Donna Muzny, Richard M Myers, David Ng, Deborah A Nickerson, Nelly M Oliver, Jeffrey Ou, Will Parsons, Donald L Patrick, Jeffrey Pennington, Denise L Perry, Gloria Petersen, Sharon Plon, Katie Porter, Bradford C Powell, Sumit Punj, Carmen Radecki Breitkopf, Robin A Raesz-Martinez, Wendy H Raskind, Heidi L Rehm, Dean A Reigar, Jacob A Reiss, Carla A Rich, Carolyn Sue Richards, Christine Rini, Scott Roberts, Peggy D Robertson, Dan Robinson, Jill O Robinson, Marguerite E Robinson, Myra I Roche, Edward J Romasko, Elisabeth A Rosenthal, Joseph Salama, Maria I Scarano, Jennifer Schneider, Sarah Scollon, Christine E Seidman, Bryce A Seifert, Richard R Sharp, Brian H Shirts, Lynette M Sholl, Javed Siddiqui, Elian Silverman, Shirley Simmons, Janae V Simons, Debra Skinner, Nancy B Spinner, Elena Stoffel, Natasha T Strande, Shamil Sunyaev, Virginia P Sybert, Jennifer Taber, Holly K Tabor, Peter Tarczy-Hornoch, Deanne M Taylor, Christian R Tilley, Ashley Tomlinson, Susan Trinidad, Ellen Tsai, Peter Ubel, Eliezer M Van Allen, Jason L Vassy, Pankaj Vats, David L Veenstra, Victoria L Vetter, Raymond D Vries, Nikhil Wagle, Sarah A Walser, Rebecca C Walsh, Karen Weck, Allison Werner-Lin, Jana Whittle, Ben Wilfond, Kirk C Wilhelmsen, Susan M Wolf, Julia Wynn, Yaping Yang, Carol Young, Joon-Ho Yu, Brian J Zikmund-Fisher, 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, Kevin M Bowling, Kyle B Brothers, Wylie Burke, Charlisse F Caga-Anan, Arul M Chinnaiyan, Wendy K Chung, Ellen W Clayton, Gregory M Cooper, Kelly 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 Huckaby Lewis, Carolyn M Hutter, Pasi A Janne, Steven Joffe, David Kaufman, Bartha M Knoppers, Barbara A Koenig, Ian D Krantz, Teri A Manolio, Laurence McCullough, Jean McEwen, Amy McGuire, Donna 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 Robinson, Joseph S Salama, Sarah Scollon, Richard R Sharp, Brian Shirts, Nancy B Spinner, Holly K Tabor, Peter Tarczy-Hornoch, David L Veenstra, Nikhil Wagle, Karen Weck, Benjamin S Wilfond, Kirk Wilhelmsen, Susan M Wolf, Julia Wynn, Joon-Ho Yu, CSER Consortium, Michelle Amaral, Laura Amendola, Paul S Appelbaum, Samuel J Aronson, Shubhangi Arora, Danielle R Azzariti, Greg S Barsh, E M Bebin, Barbara B Biesecker, Leslie G Biesecker, Sawona Biswas, Carrie L Blout, Kevin M Bowling, Kyle B Brothers, Brian L Brown, Amber A Burt, Peter H Byers, Charlisse F Caga-Anan, Muge G Calikoglu, Sara J Carlson, Nizar Chahin, Arul M Chinnaiyan, Kurt D Christensen, Wendy Chung, Allison L Cirino, Ellen Clayton, Laura K Conlin, Greg M Cooper, David R Crosslin, James V Davis, Kelly Davis, Matthew A Deardorff, Batsal Devkota, Raymond De Vries, Pamela Diamond, Michael O Dorschner, Noreen P Dugan, Dmitry Dukhovny, Matthew C Dulik, Kelly M East, Edgar A Rivera-Munoz, Barbara Evans, James P Evans, Jessica Everett, Nicole Exe, Zheng Fan, Lindsay Z Feuerman, Kelly Filipski, Candice R Finnila, Kristen Fishler, Stephanie M Fullerton, Bob Ghrundmeier, Karen Giles, Marian J Gilmore, Zahra S Girnary, Katrina Goddard, Steven Gonsalves, Adam S Gordon, Michele C Gornick, William M Grady, David E Gray, Stacy W Gray, Robert Green, Robert S Greenwood, Amanda M Gutierrez, Paul Han, Ragan Hart, Patrick Heagerty, Gail E Henderson, Naomi Hensman, Susan M Hiatt, Patricia Himes, Lucia A Hindorff, Fuki M Hisama, Carolyn Y Ho, Lily B Hoffman-Andrews, Ingrid A Holm, Celine Hong, Martha J Horike-Pyne, Sara Hull, Carolyn M Hutter, Seema Jamal, Gail P Jarvik, Brian C Jensen, Steve Joffe, Jennifer Johnston, Dean Karavite, Tia L Kauffman, Dave Kaufman, Whitley Kelley, Jerry H Kim, Christine Kirby, William Klein, Bartha Knoppers, Barbara A Koenig, Sek Won Kong, Ian Krantz, Joel B Krier, Neil E Lamb, Michele P Lambert, Lan Q Le, Matthew S Lebo, Alexander Lee, Kaitlyn B Lee, Niall Lennon, Michael C Leo, Kathleen A Leppig, Katie Lewis, Michelle Lewis, Neal I Lindeman, Nicole Lockhart, Bob Lonigro, Edward J Lose, Philip J Lupo, Laura Lyman Rodriguez, Frances Lynch, Kalotina Machini, Calum MacRae, Teri A Manolio, Daniel S Marchuk, Josue N Martinez, Aaron Masino, Laurence McCullough, Jean McEwen, Amy McGuire, Heather M McLaughlin, Carmit McMullen, Piotr A Mieczkowski, Jeff Miller, Victoria A Miller, Rajen Mody, Sean D Mooney, Elizabeth G Moore, Elissa Morris, Michael Murray, Donna Muzny, Richard M Myers, David Ng, Deborah A Nickerson, Nelly M Oliver, Jeffrey Ou, Will Parsons, Donald L Patrick, Jeffrey Pennington, Denise L Perry, Gloria Petersen, Sharon Plon, Katie Porter, Bradford C Powell, Sumit Punj, Carmen Radecki Breitkopf, Robin A Raesz-Martinez, Wendy H Raskind, Heidi L Rehm, Dean A Reigar, Jacob A Reiss, Carla A Rich, Carolyn Sue Richards, Christine Rini, Scott Roberts, Peggy D Robertson, Dan Robinson, Jill O Robinson, Marguerite E Robinson, Myra I Roche, Edward J Romasko, Elisabeth A Rosenthal, Joseph Salama, Maria I Scarano, Jennifer Schneider, Sarah Scollon, Christine E Seidman, Bryce A Seifert, Richard R Sharp, Brian H Shirts, Lynette M Sholl, Javed Siddiqui, Elian Silverman, Shirley Simmons, Janae V Simons, Debra Skinner, Nancy B Spinner, Elena Stoffel, Natasha T Strande, Shamil Sunyaev, Virginia P Sybert, Jennifer Taber, Holly K Tabor, Peter Tarczy-Hornoch, Deanne M Taylor, Christian R Tilley, Ashley Tomlinson, Susan Trinidad, Ellen Tsai, Peter Ubel, Eliezer M Van Allen, Jason L Vassy, Pankaj Vats, David L Veenstra, Victoria L Vetter, Raymond D Vries, Nikhil Wagle, Sarah A Walser, Rebecca C Walsh, Karen Weck, Allison Werner-Lin, Jana Whittle, Ben Wilfond, Kirk C Wilhelmsen, Susan M Wolf, Julia Wynn, Yaping Yang, Carol Young, Joon-Ho Yu, Brian J Zikmund-Fisher
Abstract
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.
Copyright © 2016 American Society of Human Genetics. All rights reserved.
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Source: PubMed