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Am J Hum Genet. 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.

Collaborators (215)

Amaral M, Amendola L, Appelbaum PS, Aronson SJ, Arora S, Azzariti DR, Barsh GS, Bebin EM, Biesecker BB, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Brown BL, Burt AA, Byers PH, Caga-Anan CF, Calikoglu MG, Carlson SJ, Chahin N, Chinnaiyan AM, Christensen KD, Chung W, Cirino AL, Clayton E, 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, Evans JP, Everett J, Exe N, Fan Z, Feuerman LZ, Filipski K, Finnila CR, Fishler K, Fullerton SM, Ghrundmeier B, Giles K, Gilmore MJ, Girnary ZS, Goddard K, Gonsalves S, Gordon AS, Gornick MC, Grady WM, Gray DE, Gray SW, Green R, Greenwood RS, Gutierrez AM, Han P, Hart R, Heagerty P, Henderson GE, Hensman N, Hiatt SM, Himes P, Hindorff LA, Hisama FM, Ho CY, Hoffman-Andrews LB, Holm IA, Hong C, Horike-Pyne MJ, Hull S, Hutter CM, Jamal S, Jarvik GP, Jensen BC, Joffe S, Johnston J, Karavite D, Kauffman TL, Kaufman D, Kelley W, Kim JH, Kirby C, Klein W, Knoppers B, Koenig BA, Kong SW, Krantz I, Krier JB, Lamb NE, Lambert MP, Le LQ, Lebo MS, Lee A, Lee KB, Lennon N, Leo MC, Leppig KA, Lewis K, Lewis M, Lindeman NI, Lockhart N, Lonigro B, Lose EJ, Lupo PJ, Rodriguez LL, Lynch F, Machini K, MacRae C, Manolio TA, Marchuk DS, Martinez JN, Masino A, McCullough L, McEwen J, McGuire A, McLaughlin HM, McMullen C, Mieczkowski PA, Miller J, Miller VA, Mody R, Mooney SD, Moore EG, Morris E, Murray M, Muzny D, Myers RM, Ng D, Nickerson DA, Oliver NM, Ou J, Parsons W, Patrick DL, Pennington J, Perry DL, Petersen G, Plon S, Porter K, Powell BC, Punj S, Breitkopf CR, Raesz-Martinez RA, Raskind WH, Rehm HL, Reigar DA, Reiss JA, Rich CA, Richards CS, Rini C, Roberts S, Robertson PD, Robinson D, Robinson JO, Robinson ME, Roche MI, Romasko EJ, Rosenthal EA, Salama J, Scarano MI, Schneider J, Scollon S, Seidman CE, Seifert BA, Sharp RR, Shirts BH, Sholl LM, Siddiqui J, Silverman E, Simmons S, Simons JV, Skinner D, Spinner NB, Stoffel E, Strande NT, Sunyaev S, Sybert VP, Taber J, Tabor HK, Tarczy-Hornoch P, Taylor DM, Tilley CR, Tomlinson A, Trinidad S, Tsai E, Ubel P, Van Allen EM, Vassy JL, Vats P, Veenstra DL, Vetter VL, Vries RD, Wagle N, Walser SA, Walsh RC, Weck K, Werner-Lin A, Whittle J, Wilfond B, Wilhelmsen KC, Wolf SM, Wynn J, Yang Y, Young C, Yu JH, Zikmund-Fisher BJ.

Author information

1
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA; Partners Personalized Medicine, Boston, MA 02139, USA. Electronic address: rcgreen@genetics.med.harvard.edu.
2
Center for Health Research, Kaiser Permanente Northwest, Portland, OR 97227, USA.
3
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA 98195, USA.
4
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA 98195, USA.
5
Department of Psychiatry, Columbia University Medical Center and New York State Psychiatric Institute, New York, NY 10032, USA.
6
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
7
Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
8
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
9
Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
10
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
11
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
12
Department of Pediatrics, University of Louisville, Louisville, KY 40202, USA.
13
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA 98195, USA; Department of Bioethics and Humanities, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
14
National Cancer Institute, NIH, Bethesda, MD 20892, USA.
15
Michigan Center for Translational Pathology, Ann Arbor, MI 48109, USA; Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA; Departments of Pathology and Urology, University of Michigan, Ann Arbor, MI 48109, USA; Howard Hughes Medical Institute, Ann Arbor, MI 48109, USA.
16
Department of Pediatrics, Columbia University, New York, NY 10029, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA.
17
Center for Biomedical Ethics and Society, Vanderbilt University, Nashville, TN 37203, USA.
18
Department of Bioethics and Humanities, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
19
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Medical Oncology and Center for Cancer Precision Medicine, Dana-Farber Cancer Institute, Boston, MA 02115, USA; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
20
Children's Mercy Bioethics Center, Children's Mercy Hospital, Kansas City, MO 64108, USA; Departments of Pediatrics and Philosophy, University of Missouri - Kansas City, Kansas City, MO 64110, USA.
21
Harvard Medical School, Boston, MA 02115, USA; Dana-Farber Cancer Institute, Boston, MA 02115, USA.
22
Department of Social Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
23
Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
24
Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA 02115, USA.
25
Berman Institute of Bioethics, Johns Hopkins, Baltimore, MD 21205, USA.
26
Department of Medical Ethics & Health Policy, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
27
Division of Genomics and Society, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
28
Centre of Genomics and Policy, Faculty of Medicine, Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
29
Institute for Health and Aging, University of California, San Francisco, San Francisco, CA 94118, USA.
30
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
31
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
32
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA 98195, USA.
33
Baylor College of Medicine and Texas Children's Cancer Center, Houston, TX 77030, USA.
34
Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
35
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA; Partners Personalized Medicine, Boston, MA 02139, USA; Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, MA 02139, USA.
36
Department of Health Behavior & Health Education, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
37
Michigan Center for Translational Pathology, Ann Arbor, MI 48109, USA.
38
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
39
Biomedical Ethics Research Program, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
40
Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.
41
Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
42
Department of Pediatrics and Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.
43
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; University of Washington, Seattle, WA 98105, USA.
44
Department of Pharmacy, University of Washington, Seattle, WA 98195, USA.
45
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, NC 27599, USA.
46
Law School, Medical School, and Consortium on Law and Values in Health, Environment, & the Life Sciences, Minneapolis, University of Minnesota, MN 55455, USA.
47
Department of Pediatrics, Columbia University, New York, NY 10029, USA.
48
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

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.

PMID:
27181682
PMCID:
PMC4908179
DOI:
10.1016/j.ajhg.2016.04.011
[Indexed for MEDLINE]
Free PMC Article

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