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. 2016 Jun 2;98(6):1051-1066.
doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12.

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

Robert C Green  1 Katrina A B Goddard  2 Gail P Jarvik  3 Laura M Amendola  4 Paul S Appelbaum  5 Jonathan S Berg  6 Barbara A Bernhardt  7 Leslie G Biesecker  8 Sawona Biswas  9 Carrie L Blout  10 Kevin M Bowling  11 Kyle B Brothers  12 Wylie Burke  13 Charlisse F Caga-Anan  14 Arul M Chinnaiyan  15 Wendy K Chung  16 Ellen W Clayton  17 Gregory M Cooper  11 Kelly East  11 James P Evans  6 Stephanie M Fullerton  18 Levi A Garraway  19 Jeremy R Garrett  20 Stacy W Gray  21 Gail E Henderson  22 Lucia A Hindorff  23 Ingrid A Holm  24 Michelle Huckaby Lewis  25 Carolyn M Hutter  23 Pasi A Janne  21 Steven Joffe  26 David Kaufman  27 Bartha M Knoppers  28 Barbara A Koenig  29 Ian D Krantz  9 Teri A Manolio  23 Laurence McCullough  30 Jean McEwen  27 Amy McGuire  30 Donna Muzny  31 Richard M Myers  11 Deborah A Nickerson  32 Jeffrey Ou  4 Donald W Parsons  33 Gloria M Petersen  34 Sharon E Plon  33 Heidi L Rehm  35 J Scott Roberts  36 Dan Robinson  37 Joseph S Salama  4 Sarah Scollon  38 Richard R Sharp  39 Brian Shirts  40 Nancy B Spinner  41 Holly K Tabor  42 Peter Tarczy-Hornoch  43 David L Veenstra  44 Nikhil Wagle  19 Karen Weck  45 Benjamin S Wilfond  42 Kirk Wilhelmsen  6 Susan M Wolf  46 Julia Wynn  47 Joon-Ho Yu  48 CSER Consortium
Collaborators, Affiliations
Free PMC article

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

Robert C Green et al. Am J Hum Genet. .
Free PMC article

Erratum in

  • Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
    Green RC, Goddard KA, 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; CSER Consortium. Green RC, et al. Am J Hum Genet. 2016 Jul 7;99(1):246. doi: 10.1016/j.ajhg.2016.06.002. Am J Hum Genet. 2016. PMID: 27392080 Free PMC article. No abstract available.


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.


Figure 1
Figure 1
Schematic of the Structure of the CSER Consortium Grants funded under RFA-HG-11-003 and RFA- HG-11-004 have ended, but the investigators on those grants continue to participate in consortium activities. Along with ELSI investigators on the U-awards, they meet regularly to discuss ELSI issues relevant to CSER. Note: this figure was updated for the purposes of this publication and is reproduced with permission from the CSER consortium; it is now available on the CSER website (see Web Resources).
Figure 2
Figure 2
Cumulative Enrollment and Sequencing of Participants in the CSER U-Awards These numbers reflect participant enrollment (including physician enrollment at some sites). Several sites (MedSeq, CanSeq, and NextMed) enrolled control participants (who were not sequenced) in a randomized trial.

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