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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.
Afiliación
  • Green RC; 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.
  • Goddard KAB; Center for Health Research, Kaiser Permanente Northwest, Portland, OR 97227, USA.
  • Jarvik GP; 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.
  • Amendola LM; 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.
  • Appelbaum PS; Department of Psychiatry, Columbia University Medical Center and New York State Psychiatric Institute, New York, NY 10032, USA.
  • Berg JS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Bernhardt BA; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Biswas S; 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.
  • Blout CL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
  • Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Brothers KB; Department of Pediatrics, University of Louisville, Louisville, KY 40202, USA.
  • Burke W; 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 Washin
  • Caga-Anan CF; National Cancer Institute, NIH, Bethesda, MD 20892, USA.
  • Chinnaiyan AM; 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.
  • Chung WK; Department of Pediatrics, Columbia University, New York, NY 10029, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA.
  • Clayton EW; Center for Biomedical Ethics and Society, Vanderbilt University, Nashville, TN 37203, USA.
  • Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • East K; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Evans JP; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Fullerton SM; Department of Bioethics and Humanities, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
  • Garraway LA; 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.
  • Garrett JR; 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.
  • Gray SW; Harvard Medical School, Boston, MA 02115, USA; Dana-Farber Cancer Institute, Boston, MA 02115, USA.
  • Henderson GE; Department of Social Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Hindorff LA; Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Holm IA; 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.
  • Lewis MH; Berman Institute of Bioethics, Johns Hopkins, Baltimore, MD 21205, USA.
  • Hutter CM; Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Janne PA; Harvard Medical School, Boston, MA 02115, USA; Dana-Farber Cancer Institute, Boston, MA 02115, USA.
  • Joffe S; Department of Medical Ethics & Health Policy, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
  • Kaufman D; Division of Genomics and Society, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Knoppers BM; Centre of Genomics and Policy, Faculty of Medicine, Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
  • Koenig BA; Institute for Health and Aging, University of California, San Francisco, San Francisco, CA 94118, USA.
  • Krantz ID; 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.
  • Manolio TA; Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • McCullough L; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
  • McEwen J; Division of Genomics and Society, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • McGuire A; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
  • Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA 98195, USA.
  • Ou J; 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.
  • Parsons DW; Baylor College of Medicine and Texas Children's Cancer Center, Houston, TX 77030, USA.
  • Petersen GM; Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
  • Plon SE; Baylor College of Medicine and Texas Children's Cancer Center, Houston, TX 77030, USA.
  • Rehm HL; 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.
  • Roberts JS; Department of Health Behavior & Health Education, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
  • Robinson D; Michigan Center for Translational Pathology, Ann Arbor, MI 48109, USA.
  • Salama JS; 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.
Am J Hum Genet ; 98(6): 1051-1066, 2016 06 02.
Article en En | MEDLINE | ID: mdl-27181682
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Genoma Humano / Polimorfismo de Nucleótido Simple / Genómica / Investigación Biomédica / Práctica Clínica Basada en la Evidencia / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma Tipo de estudio: Guideline Límite: Adult / Child / Humans País/Región como asunto: America do norte Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Genoma Humano / Polimorfismo de Nucleótido Simple / Genómica / Investigación Biomédica / Práctica Clínica Basada en la Evidencia / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma Tipo de estudio: Guideline Límite: Adult / Child / Humans País/Región como asunto: America do norte Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article