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 & 207 others 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, Michelle Amaral, Samuel J. Aronson, Shubhangi Arora, Danielle R. Azzariti, Greg S. Barsh, E. M. Bebin, Barbara B. Biesecker, Brian L. Brown, Amber A. Burt, Peter H. Byers, Muge G. Calikoglu, Sara J. Carlson, Nizar Chahin, Kurt D. Christensen, Allison L. Cirino, 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, Jessica Everett, Nicole Exe, Zheng Fan, Lindsay Z. Feuerman, Kelly Filipski, Candice R. Finnila, Kristen Fishler, Bob Ghrundmeier, Karen Giles, Marian J. Gilmore, Zahra S. Girnary, Steven Gonsalves, Adam S. Gordon, Michele C. Gornick, William M. Grady, David E. Gray, Robert S. Greenwood, Amanda M. Gutierrez, Paul Han, Ragan Hart, Patrick Heagerty, Naomi Hensman, Susan M. Hiatt, Patricia Himes, Fuki M. Hisama, Carolyn Y. Ho, Lily B. Hoffman-Andrews, Celine Hong, Martha J. Horike-Pyne, Sara Hull, Seema Jamal, Brian C. Jensen, Jennifer Johnston, Dean Karavite, Tia L. Kauffman, Dave Kaufman, Whitley Kelley, Jerry H. Kim, Christine Kirby, William Klein, Sek Won Kong, 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, Neal I. Lindeman, Nicole Lockhart, Bob Lonigro, Edward J. Lose, Philip J. Lupo, Laura Lyman Rodriguez, Frances Lynch, Kalotina Machini, Calum Macrae, Daniel S. Marchuk, Josue N. Martinez, Aaron Masino, 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, David Ng, Nelly M. Oliver, Will Parsons, Donald L. Patrick, Jeffrey Pennington, Denise L. Perry, Katie Porter, Bradford C. Powell, Sumit Punj, Carmen Radecki Breitkopf, Robin A. Raesz-Martinez, Wendy H. Raskind, Dean A. Reigar, Jacob A. Reiss, Carla A. Rich, Carolyn Sue Richards, Christine Rini, Scott Roberts, Peggy D. Robertson, Jill O. Robinson, Marguerite E. Robinson, Myra I. Roche, Edward J. Romasko, Elisabeth A. Rosenthal, Maria I. Scarano, Jennifer Schneider, Christine E. Seidman, Bryce A. Seifert, Brian H. Shirts, Lynette M. Sholl, Javed Siddiqui, Elian Silverman, Shirley Simmons, Janae V. Simons, Debra Skinner, Elena Stoffel, Natasha T. Strande, Shamil Sunyaev, Virginia P. Sybert, Jennifer Taber, Deanne M. Taylor, Christine R. Tilley, Ashley Tomlinson, Susan Trinidad, Ellen Tsai, Eliezer M. Van Allen, Jason L. Vassy, Pankaj Vats, Victoria L. Vetter, Raymond D. Vries, Sarah A. Walser, Rebecca C. Walsh, Allison Werner-Lin, Jana Whittle, Kirk C. Wilhelmsen, Yaping Yang, Carol Young, Brian J. Zikmund-Fisher

Research output: Contribution to journalArticle

82 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1051-1066
Number of pages16
JournalAmerican Journal of Human Genetics
Volume98
Issue number6
DOIs
StatePublished - Jun 2 2016

Fingerprint

Evidence-Based Practice
Exome
Medicine
National Human Genome Research Institute (U.S.)
Research
Genome
National Cancer Institute (U.S.)
Penetrance
Electronic Health Records
Disclosure
Genomics
Practice Guidelines
Databases
Costs and Cost Analysis
Health
Genes
Neoplasms

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Green, R. C., Goddard, K. A. B., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., ... Zikmund-Fisher, B. J. (2016). Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American Journal of Human Genetics, 98(6), 1051-1066. https://doi.org/10.1016/j.ajhg.2016.04.011

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

In: American Journal of Human Genetics, Vol. 98, No. 6, 02.06.2016, p. 1051-1066.

Research output: Contribution to journalArticle

Green, RC, Goddard, KAB, Jarvik, GP, Amendola, LM, Appelbaum, PS, Berg, JS, Bernhardt, BA, Biesecker, LG, Biswas, S, Blout, CL, Bowling, KM, Brothers, KB, Burke, W, Caga-Anan, CF, Chinnaiyan, AM, Chung, WK, Clayton, EW, Cooper, GM, East, K, Evans, JP, Fullerton, SM, Garraway, LA, Garrett, JR, Gray, SW, Henderson, GE, Hindorff, LA, Holm, IA, Lewis, MH, Hutter, CM, Janne, PA, Joffe, S, Kaufman, D, Knoppers, BM, Koenig, BA, Krantz, ID, Manolio, TA, McCullough, L, McEwen, J, McGuire, A, Muzny, D, Myers, RM, Nickerson, DA, Ou, J, Parsons, DW, Petersen, GM, Plon, SE, Rehm, HL, Roberts, JS, Robinson, D, Salama, JS, Scollon, S, Sharp, RR, Shirts, B, Spinner, NB, Tabor, HK, Tarczy-Hornoch, P, Veenstra, DL, Wagle, N, Weck, K, Wilfond, BS, Wilhelmsen, K, Wolf, SM, Wynn, J, Yu, JH, Amaral, M, Aronson, SJ, Arora, S, Azzariti, DR, Barsh, GS, Bebin, EM, Biesecker, BB, Brown, BL, Burt, AA, Byers, PH, Calikoglu, MG, Carlson, SJ, Chahin, N, Christensen, KD, Cirino, AL, Conlin, LK, Cooper, GM, Crosslin, DR, Davis, JV, Davis, K, Deardorff, MA, Devkota, B, De Vries, R, Diamond, P, Dorschner, MO, Dugan, NP, Dukhovny, D, Dulik, MC, East, KM, Rivera-Munoz, EA, Evans, B, Everett, J, Exe, N, Fan, Z, Feuerman, LZ, Filipski, K, Finnila, CR, Fishler, K, Ghrundmeier, B, Giles, K, Gilmore, MJ, Girnary, ZS, Gonsalves, S, Gordon, AS, Gornick, MC, Grady, WM, Gray, DE, Greenwood, RS, Gutierrez, AM, Han, P, Hart, R, Heagerty, P, Hensman, N, Hiatt, SM, Himes, P, Hisama, FM, Ho, CY, Hoffman-Andrews, LB, Hong, C, Horike-Pyne, MJ, Hull, S, Jamal, S, Jensen, BC, Johnston, J, Karavite, D, Kauffman, TL, Kaufman, D, Kelley, W, Kim, JH, Kirby, C, Klein, W, Kong, SW, Krier, JB, Lamb, NE, Lambert, MP, Le, LQ, Lebo, MS, Lee, A, Lee, KB, Lennon, N, Leo, MC, Leppig, KA, Lewis, K, Lindeman, NI, Lockhart, N, Lonigro, B, Lose, EJ, Lupo, PJ, Rodriguez, LL, Lynch, F, Machini, K, Macrae, C, Marchuk, DS, Martinez, JN, Masino, A, McLaughlin, HM, McMullen, C, Mieczkowski, PA, Miller, J, Miller, VA, Mody, R, Mooney, SD, Moore, EG, Morris, E, Murray, M, Ng, D, Oliver, NM, Parsons, W, Patrick, DL, Pennington, J, Perry, DL, Porter, K, Powell, BC, Punj, S, Radecki Breitkopf, C, Raesz-Martinez, RA, Raskind, WH, Reigar, DA, Reiss, JA, Rich, CA, Richards, CS, Rini, C, Roberts, S, Robertson, PD, Robinson, JO, Robinson, ME, Roche, MI, Romasko, EJ, Rosenthal, EA, Scarano, MI, Schneider, J, Seidman, CE, Seifert, BA, Shirts, BH, Sholl, LM, Siddiqui, J, Silverman, E, Simmons, S, Simons, JV, Skinner, D, Stoffel, E, Strande, NT, Sunyaev, S, Sybert, VP, Taber, J, Taylor, DM, Tilley, CR, Tomlinson, A, Trinidad, S, Tsai, E, Van Allen, EM, Vassy, JL, Vats, P, Vetter, VL, Vries, RD, Walser, SA, Walsh, RC, Werner-Lin, A, Whittle, J, Wilhelmsen, KC, Yang, Y, Young, C & Zikmund-Fisher, BJ 2016, 'Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine', American Journal of Human Genetics, vol. 98, no. 6, pp. 1051-1066. https://doi.org/10.1016/j.ajhg.2016.04.011
Green, Robert C. ; Goddard, Katrina A B ; Jarvik, Gail P. ; Amendola, Laura M. ; Appelbaum, Paul S. ; Berg, Jonathan S. ; Bernhardt, Barbara A. ; Biesecker, Leslie G. ; Biswas, Sawona ; Blout, Carrie L. ; Bowling, Kevin M. ; Brothers, Kyle B. ; Burke, Wylie ; Caga-Anan, Charlisse F. ; Chinnaiyan, Arul M. ; Chung, Wendy K. ; Clayton, Ellen W. ; Cooper, Gregory M. ; East, Kelly ; Evans, James P. ; Fullerton, Stephanie M. ; Garraway, Levi A. ; Garrett, Jeremy R. ; Gray, Stacy W. ; Henderson, Gail E. ; Hindorff, Lucia A. ; Holm, Ingrid A. ; Lewis, Michelle Huckaby ; Hutter, Carolyn M. ; Janne, Pasi A. ; Joffe, Steven ; Kaufman, David ; Knoppers, Bartha M. ; Koenig, Barbara A. ; Krantz, Ian D. ; Manolio, Teri A. ; McCullough, Laurence ; McEwen, Jean ; McGuire, Amy ; Muzny, Donna ; Myers, Richard M. ; Nickerson, Deborah A. ; Ou, Jeffrey ; Parsons, Donald W. ; Petersen, Gloria M ; Plon, Sharon E. ; Rehm, Heidi L. ; Roberts, J. Scott ; Robinson, Dan ; Salama, Joseph S. ; Scollon, Sarah ; Sharp, Richard R ; Shirts, Brian ; Spinner, Nancy B. ; Tabor, Holly K. ; Tarczy-Hornoch, Peter ; Veenstra, David L. ; Wagle, Nikhil ; Weck, Karen ; Wilfond, Benjamin S. ; Wilhelmsen, Kirk ; Wolf, Susan M. ; Wynn, Julia ; Yu, Joon Ho ; Amaral, Michelle ; Aronson, Samuel J. ; Arora, Shubhangi ; Azzariti, Danielle R. ; Barsh, Greg S. ; Bebin, E. M. ; Biesecker, Barbara B. ; Brown, Brian L. ; Burt, Amber A. ; Byers, Peter H. ; Calikoglu, Muge G. ; Carlson, Sara J. ; Chahin, Nizar ; Christensen, Kurt D. ; Cirino, Allison L. ; Conlin, Laura K. ; Cooper, Greg M. ; Crosslin, David R. ; Davis, James V. ; Davis, Kelly ; Deardorff, Matthew A. ; Devkota, Batsal ; De Vries, Raymond ; Diamond, Pamela ; Dorschner, Michael O. ; Dugan, Noreen P. ; Dukhovny, Dmitry ; Dulik, Matthew C. ; East, Kelly M. ; Rivera-Munoz, Edgar A. ; Evans, Barbara ; Everett, Jessica ; Exe, Nicole ; Fan, Zheng ; Feuerman, Lindsay Z. ; Filipski, Kelly ; Finnila, Candice R. ; Fishler, Kristen ; Ghrundmeier, Bob ; Giles, Karen ; Gilmore, Marian J. ; Girnary, Zahra S. ; Gonsalves, Steven ; Gordon, Adam S. ; Gornick, Michele C. ; Grady, William M. ; Gray, David E. ; Greenwood, Robert S. ; Gutierrez, Amanda M. ; Han, Paul ; Hart, Ragan ; Heagerty, Patrick ; Hensman, Naomi ; Hiatt, Susan M. ; Himes, Patricia ; Hisama, Fuki M. ; Ho, Carolyn Y. ; Hoffman-Andrews, Lily B. ; Hong, Celine ; Horike-Pyne, Martha J. ; Hull, Sara ; Jamal, Seema ; Jensen, Brian C. ; Johnston, Jennifer ; Karavite, Dean ; Kauffman, Tia L. ; Kaufman, Dave ; Kelley, Whitley ; Kim, Jerry H. ; Kirby, Christine ; Klein, William ; Kong, Sek Won ; Krier, Joel B. ; Lamb, Neil E. ; Lambert, Michele P. ; Le, Lan Q. ; Lebo, Matthew S. ; Lee, Alexander ; Lee, Kaitlyn B. ; Lennon, Niall ; Leo, Michael C. ; Leppig, Kathleen A. ; Lewis, Katie ; Lindeman, Neal I. ; Lockhart, Nicole ; Lonigro, Bob ; Lose, Edward J. ; Lupo, Philip J. ; Rodriguez, Laura Lyman ; Lynch, Frances ; Machini, Kalotina ; Macrae, Calum ; Marchuk, Daniel S. ; Martinez, Josue N. ; Masino, Aaron ; McLaughlin, Heather M. ; McMullen, Carmit ; Mieczkowski, Piotr A. ; Miller, Jeff ; Miller, Victoria A. ; Mody, Rajen ; Mooney, Sean D. ; Moore, Elizabeth G. ; Morris, Elissa ; Murray, Michael ; Ng, David ; Oliver, Nelly M. ; Parsons, Will ; Patrick, Donald L. ; Pennington, Jeffrey ; Perry, Denise L. ; Porter, Katie ; Powell, Bradford C. ; Punj, Sumit ; Radecki Breitkopf, Carmen ; Raesz-Martinez, Robin A. ; Raskind, Wendy H. ; Reigar, Dean A. ; Reiss, Jacob A. ; Rich, Carla A. ; Richards, Carolyn Sue ; Rini, Christine ; Roberts, Scott ; Robertson, Peggy D. ; Robinson, Jill O. ; Robinson, Marguerite E. ; Roche, Myra I. ; Romasko, Edward J. ; Rosenthal, Elisabeth A. ; Scarano, Maria I. ; Schneider, Jennifer ; Seidman, Christine E. ; Seifert, Bryce A. ; Shirts, Brian H. ; Sholl, Lynette M. ; Siddiqui, Javed ; Silverman, Elian ; Simmons, Shirley ; Simons, Janae V. ; Skinner, Debra ; Stoffel, Elena ; Strande, Natasha T. ; Sunyaev, Shamil ; Sybert, Virginia P. ; Taber, Jennifer ; Taylor, Deanne M. ; Tilley, Christine R. ; Tomlinson, Ashley ; Trinidad, Susan ; Tsai, Ellen ; Van Allen, Eliezer M. ; Vassy, Jason L. ; Vats, Pankaj ; Vetter, Victoria L. ; Vries, Raymond D. ; Walser, Sarah A. ; Walsh, Rebecca C. ; Werner-Lin, Allison ; Whittle, Jana ; Wilhelmsen, Kirk C. ; Yang, Yaping ; Young, Carol ; Zikmund-Fisher, Brian J. / Clinical Sequencing Exploratory Research Consortium : Accelerating Evidence-Based Practice of Genomic Medicine. In: American Journal of Human Genetics. 2016 ; Vol. 98, No. 6. pp. 1051-1066.
@article{e96fa881cef84e21b5f04eeb2dd13094,
title = "Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine",
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.",
author = "Green, {Robert C.} and Goddard, {Katrina A B} and Jarvik, {Gail P.} and Amendola, {Laura M.} and Appelbaum, {Paul S.} and Berg, {Jonathan S.} and Bernhardt, {Barbara A.} and Biesecker, {Leslie G.} and Sawona Biswas and Blout, {Carrie L.} and Bowling, {Kevin M.} and Brothers, {Kyle B.} and Wylie Burke and Caga-Anan, {Charlisse F.} and Chinnaiyan, {Arul M.} and Chung, {Wendy K.} and Clayton, {Ellen W.} and Cooper, {Gregory M.} and Kelly East and Evans, {James P.} and Fullerton, {Stephanie M.} and Garraway, {Levi A.} and Garrett, {Jeremy R.} and Gray, {Stacy W.} and Henderson, {Gail E.} and Hindorff, {Lucia A.} and Holm, {Ingrid A.} and Lewis, {Michelle Huckaby} and Hutter, {Carolyn M.} and Janne, {Pasi A.} and Steven Joffe and David Kaufman and Knoppers, {Bartha M.} and Koenig, {Barbara A.} and Krantz, {Ian D.} and Manolio, {Teri A.} and Laurence McCullough and Jean McEwen and Amy McGuire and Donna Muzny and Myers, {Richard M.} and Nickerson, {Deborah A.} and Jeffrey Ou and Parsons, {Donald W.} and Petersen, {Gloria M} and Plon, {Sharon E.} and Rehm, {Heidi L.} and Roberts, {J. Scott} and Dan Robinson and Salama, {Joseph S.} and Sarah Scollon and Sharp, {Richard R} and Brian Shirts and Spinner, {Nancy B.} and Tabor, {Holly K.} and Peter Tarczy-Hornoch and Veenstra, {David L.} and Nikhil Wagle and Karen Weck and Wilfond, {Benjamin S.} and Kirk Wilhelmsen and Wolf, {Susan M.} and Julia Wynn and Yu, {Joon Ho} and Michelle Amaral and Aronson, {Samuel J.} and Shubhangi Arora and Azzariti, {Danielle R.} and Barsh, {Greg S.} and Bebin, {E. M.} and Biesecker, {Barbara B.} and Brown, {Brian L.} and Burt, {Amber A.} and Byers, {Peter H.} and Calikoglu, {Muge G.} and Carlson, {Sara J.} and Nizar Chahin and Christensen, {Kurt D.} and Cirino, {Allison L.} and Conlin, {Laura K.} and Cooper, {Greg M.} and Crosslin, {David R.} and Davis, {James V.} and Kelly Davis and Deardorff, {Matthew A.} and Batsal Devkota and {De Vries}, Raymond and Pamela Diamond and Dorschner, {Michael O.} and Dugan, {Noreen P.} and Dmitry Dukhovny and Dulik, {Matthew C.} and East, {Kelly M.} and Rivera-Munoz, {Edgar A.} and Barbara Evans and Jessica Everett and Nicole Exe and Zheng Fan and Feuerman, {Lindsay Z.} and Kelly Filipski and Finnila, {Candice R.} and Kristen Fishler and Bob Ghrundmeier and Karen Giles and Gilmore, {Marian J.} and Girnary, {Zahra S.} and Steven Gonsalves and Gordon, {Adam S.} and Gornick, {Michele C.} and Grady, {William M.} and Gray, {David E.} and Greenwood, {Robert S.} and Gutierrez, {Amanda M.} and Paul Han and Ragan Hart and Patrick Heagerty and Naomi Hensman and Hiatt, {Susan M.} and Patricia Himes and Hisama, {Fuki M.} and Ho, {Carolyn Y.} and Hoffman-Andrews, {Lily B.} and Celine Hong and Horike-Pyne, {Martha J.} and Sara Hull and Seema Jamal and Jensen, {Brian C.} and Jennifer Johnston and Dean Karavite and Kauffman, {Tia L.} and Dave Kaufman and Whitley Kelley and Kim, {Jerry H.} and Christine Kirby and William Klein and Kong, {Sek Won} and Krier, {Joel B.} and Lamb, {Neil E.} and Lambert, {Michele P.} and Le, {Lan Q.} and Lebo, {Matthew S.} and Alexander Lee and Lee, {Kaitlyn B.} and Niall Lennon and Leo, {Michael C.} and Leppig, {Kathleen A.} and Katie Lewis and Lindeman, {Neal I.} and Nicole Lockhart and Bob Lonigro and Lose, {Edward J.} and Lupo, {Philip J.} and Rodriguez, {Laura Lyman} and Frances Lynch and Kalotina Machini and Calum Macrae and Marchuk, {Daniel S.} and Martinez, {Josue N.} and Aaron Masino and McLaughlin, {Heather M.} and Carmit McMullen and Mieczkowski, {Piotr A.} and Jeff Miller and Miller, {Victoria A.} and Rajen Mody and Mooney, {Sean D.} and Moore, {Elizabeth G.} and Elissa Morris and Michael Murray and David Ng and Oliver, {Nelly M.} and Will Parsons and Patrick, {Donald L.} and Jeffrey Pennington and Perry, {Denise L.} and Katie Porter and Powell, {Bradford C.} and Sumit Punj and {Radecki Breitkopf}, Carmen and Raesz-Martinez, {Robin A.} and Raskind, {Wendy H.} and Reigar, {Dean A.} and Reiss, {Jacob A.} and Rich, {Carla A.} and Richards, {Carolyn Sue} and Christine Rini and Scott Roberts and Robertson, {Peggy D.} and Robinson, {Jill O.} and Robinson, {Marguerite E.} and Roche, {Myra I.} and Romasko, {Edward J.} and Rosenthal, {Elisabeth A.} and Scarano, {Maria I.} and Jennifer Schneider and Seidman, {Christine E.} and Seifert, {Bryce A.} and Shirts, {Brian H.} and Sholl, {Lynette M.} and Javed Siddiqui and Elian Silverman and Shirley Simmons and Simons, {Janae V.} and Debra Skinner and Elena Stoffel and Strande, {Natasha T.} and Shamil Sunyaev and Sybert, {Virginia P.} and Jennifer Taber and Taylor, {Deanne M.} and Tilley, {Christine R.} and Ashley Tomlinson and Susan Trinidad and Ellen Tsai and {Van Allen}, {Eliezer M.} and Vassy, {Jason L.} and Pankaj Vats and Vetter, {Victoria L.} and Vries, {Raymond D.} and Walser, {Sarah A.} and Walsh, {Rebecca C.} and Allison Werner-Lin and Jana Whittle and Wilhelmsen, {Kirk C.} and Yaping Yang and Carol Young and Zikmund-Fisher, {Brian J.}",
year = "2016",
month = "6",
day = "2",
doi = "10.1016/j.ajhg.2016.04.011",
language = "English (US)",
volume = "98",
pages = "1051--1066",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "6",

}

TY - JOUR

T1 - Clinical Sequencing Exploratory Research Consortium

T2 - Accelerating Evidence-Based Practice of Genomic Medicine

AU - Green, Robert C.

AU - Goddard, Katrina A B

AU - Jarvik, Gail P.

AU - Amendola, Laura M.

AU - Appelbaum, Paul S.

AU - Berg, Jonathan S.

AU - Bernhardt, Barbara A.

AU - Biesecker, Leslie G.

AU - Biswas, Sawona

AU - Blout, Carrie L.

AU - Bowling, Kevin M.

AU - Brothers, Kyle B.

AU - Burke, Wylie

AU - Caga-Anan, Charlisse F.

AU - Chinnaiyan, Arul M.

AU - Chung, Wendy K.

AU - Clayton, Ellen W.

AU - Cooper, Gregory M.

AU - East, Kelly

AU - Evans, James P.

AU - Fullerton, Stephanie M.

AU - Garraway, Levi A.

AU - Garrett, Jeremy R.

AU - Gray, Stacy W.

AU - Henderson, Gail E.

AU - Hindorff, Lucia A.

AU - Holm, Ingrid A.

AU - Lewis, Michelle Huckaby

AU - Hutter, Carolyn M.

AU - Janne, Pasi A.

AU - Joffe, Steven

AU - Kaufman, David

AU - Knoppers, Bartha M.

AU - Koenig, Barbara A.

AU - Krantz, Ian D.

AU - Manolio, Teri A.

AU - McCullough, Laurence

AU - McEwen, Jean

AU - McGuire, Amy

AU - Muzny, Donna

AU - Myers, Richard M.

AU - Nickerson, Deborah A.

AU - Ou, Jeffrey

AU - Parsons, Donald W.

AU - Petersen, Gloria M

AU - Plon, Sharon E.

AU - Rehm, Heidi L.

AU - Roberts, J. Scott

AU - Robinson, Dan

AU - Salama, Joseph S.

AU - Scollon, Sarah

AU - Sharp, Richard R

AU - Shirts, Brian

AU - Spinner, Nancy B.

AU - Tabor, Holly K.

AU - Tarczy-Hornoch, Peter

AU - Veenstra, David L.

AU - Wagle, Nikhil

AU - Weck, Karen

AU - Wilfond, Benjamin S.

AU - Wilhelmsen, Kirk

AU - Wolf, Susan M.

AU - Wynn, Julia

AU - Yu, Joon Ho

AU - Amaral, Michelle

AU - Aronson, Samuel J.

AU - Arora, Shubhangi

AU - Azzariti, Danielle R.

AU - Barsh, Greg S.

AU - Bebin, E. M.

AU - Biesecker, Barbara B.

AU - Brown, Brian L.

AU - Burt, Amber A.

AU - Byers, Peter H.

AU - Calikoglu, Muge G.

AU - Carlson, Sara J.

AU - Chahin, Nizar

AU - Christensen, Kurt D.

AU - Cirino, Allison L.

AU - Conlin, Laura K.

AU - Cooper, Greg M.

AU - Crosslin, David R.

AU - Davis, James V.

AU - Davis, Kelly

AU - Deardorff, Matthew A.

AU - Devkota, Batsal

AU - De Vries, Raymond

AU - Diamond, Pamela

AU - Dorschner, Michael O.

AU - Dugan, Noreen P.

AU - Dukhovny, Dmitry

AU - Dulik, Matthew C.

AU - East, Kelly M.

AU - Rivera-Munoz, Edgar A.

AU - Evans, Barbara

AU - Everett, Jessica

AU - Exe, Nicole

AU - Fan, Zheng

AU - Feuerman, Lindsay Z.

AU - Filipski, Kelly

AU - Finnila, Candice R.

AU - Fishler, Kristen

AU - Ghrundmeier, Bob

AU - Giles, Karen

AU - Gilmore, Marian J.

AU - Girnary, Zahra S.

AU - Gonsalves, Steven

AU - Gordon, Adam S.

AU - Gornick, Michele C.

AU - Grady, William M.

AU - Gray, David E.

AU - Greenwood, Robert S.

AU - Gutierrez, Amanda M.

AU - Han, Paul

AU - Hart, Ragan

AU - Heagerty, Patrick

AU - Hensman, Naomi

AU - Hiatt, Susan M.

AU - Himes, Patricia

AU - Hisama, Fuki M.

AU - Ho, Carolyn Y.

AU - Hoffman-Andrews, Lily B.

AU - Hong, Celine

AU - Horike-Pyne, Martha J.

AU - Hull, Sara

AU - Jamal, Seema

AU - Jensen, Brian C.

AU - Johnston, Jennifer

AU - Karavite, Dean

AU - Kauffman, Tia L.

AU - Kaufman, Dave

AU - Kelley, Whitley

AU - Kim, Jerry H.

AU - Kirby, Christine

AU - Klein, William

AU - Kong, Sek Won

AU - Krier, Joel B.

AU - Lamb, Neil E.

AU - Lambert, Michele P.

AU - Le, Lan Q.

AU - Lebo, Matthew S.

AU - Lee, Alexander

AU - Lee, Kaitlyn B.

AU - Lennon, Niall

AU - Leo, Michael C.

AU - Leppig, Kathleen A.

AU - Lewis, Katie

AU - Lindeman, Neal I.

AU - Lockhart, Nicole

AU - Lonigro, Bob

AU - Lose, Edward J.

AU - Lupo, Philip J.

AU - Rodriguez, Laura Lyman

AU - Lynch, Frances

AU - Machini, Kalotina

AU - Macrae, Calum

AU - Marchuk, Daniel S.

AU - Martinez, Josue N.

AU - Masino, Aaron

AU - McLaughlin, Heather M.

AU - McMullen, Carmit

AU - Mieczkowski, Piotr A.

AU - Miller, Jeff

AU - Miller, Victoria A.

AU - Mody, Rajen

AU - Mooney, Sean D.

AU - Moore, Elizabeth G.

AU - Morris, Elissa

AU - Murray, Michael

AU - Ng, David

AU - Oliver, Nelly M.

AU - Parsons, Will

AU - Patrick, Donald L.

AU - Pennington, Jeffrey

AU - Perry, Denise L.

AU - Porter, Katie

AU - Powell, Bradford C.

AU - Punj, Sumit

AU - Radecki Breitkopf, Carmen

AU - Raesz-Martinez, Robin A.

AU - Raskind, Wendy H.

AU - Reigar, Dean A.

AU - Reiss, Jacob A.

AU - Rich, Carla A.

AU - Richards, Carolyn Sue

AU - Rini, Christine

AU - Roberts, Scott

AU - Robertson, Peggy D.

AU - Robinson, Jill O.

AU - Robinson, Marguerite E.

AU - Roche, Myra I.

AU - Romasko, Edward J.

AU - Rosenthal, Elisabeth A.

AU - Scarano, Maria I.

AU - Schneider, Jennifer

AU - Seidman, Christine E.

AU - Seifert, Bryce A.

AU - Shirts, Brian H.

AU - Sholl, Lynette M.

AU - Siddiqui, Javed

AU - Silverman, Elian

AU - Simmons, Shirley

AU - Simons, Janae V.

AU - Skinner, Debra

AU - Stoffel, Elena

AU - Strande, Natasha T.

AU - Sunyaev, Shamil

AU - Sybert, Virginia P.

AU - Taber, Jennifer

AU - Taylor, Deanne M.

AU - Tilley, Christine R.

AU - Tomlinson, Ashley

AU - Trinidad, Susan

AU - Tsai, Ellen

AU - Van Allen, Eliezer M.

AU - Vassy, Jason L.

AU - Vats, Pankaj

AU - Vetter, Victoria L.

AU - Vries, Raymond D.

AU - Walser, Sarah A.

AU - Walsh, Rebecca C.

AU - Werner-Lin, Allison

AU - Whittle, Jana

AU - Wilhelmsen, Kirk C.

AU - Yang, Yaping

AU - Young, Carol

AU - Zikmund-Fisher, Brian J.

PY - 2016/6/2

Y1 - 2016/6/2

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84966593429&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84966593429&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2016.04.011

DO - 10.1016/j.ajhg.2016.04.011

M3 - Article

VL - 98

SP - 1051

EP - 1066

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 6

ER -