A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
作者:
Julianne M,O'Daniel [1]
;
Heather M,McLaughlin [2]
;
Laura M,Amendola [3]
;
Sherri J,Bale [4]
;
Jonathan S,Berg [1]
;
David,Bick [5]
;
Kevin M,Bowling [6]
;
Elizabeth C,Chao [7]
;
Wendy K,Chung [8]
;
Laura K,Conlin [9]
;
Gregory M,Cooper [10]
;
Soma,Das [11]
;
Joshua L,Deignan [6]
;
Michael O,Dorschner [12]
;
James P,Evans [13]
;
Arezou A,Ghazani [14]
;
Katrina A,Goddard [1]
;
Michele,Gornick [15]
;
Kelly D,Farwell Hagman [16]
;
Tina,Hambuch [17]
;
Madhuri,Hegde [7]
;
Lucia A,Hindorff [18]
;
Ingrid A,Holm [19]
;
Gail P,Jarvik [20]
;
Amy,Knight Johnson [21]
;
Lindsey,Mighion [22]
;
Massimo,Morra [3]
;
Sharon E,Plon [14]
;
Sumit,Punj [12]
;
C Sue,Richards [19]
;
Avni,Santani [23]
;
Brian H,Shirts [24]
;
Nancy B,Spinner [25]
;
Sha,Tang [25]
;
Karen E,Weck [11]
;
Susan M,Wolf [26]
;
Yaping,Yang [11]
;
Heidi L,Rehm [7]
作者单位:
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
[1]
Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts, USA.
[2]
Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
[3]
GeneDx, Inc., Gaithersburg, Maryland, USA.
[4]
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
[5]
HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
[6]
Ambry Genetics, Aliso Viejo, California, USA.
[7]
Division of Genetics and Genomics, Department of Pediatrics, University of California, Irvine, California, USA.
[8]
Department of Pediatrics, Columbia University, New York, New York, USA.
[9]
Department of Medicine, Columbia University, New York, New York, USA.
[10]
Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, USA.
[11]
Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.
[12]
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
[13]
Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
[14]
Department of Medical Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA.
[15]
Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
[16]
Department of Internal Medicine, Center for Bioethics Social Science and Medicine, University of Michigan, Ann Arbor, Michigan, USA.
[17]
Illumina, Inc., San Diego, California, USA.
[18]
Emory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
[19]
Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
[20]
Division of Genetics and Genomics and Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, Massachusetts, USA.
[21]
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
[22]
Personalis, Inc., Menlo Park, California, USA.
[23]
Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
[24]
Department of Molecular and Medical Genetics, Oregon Health &Science University, Portland, Oregon, USA.
[25]
Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.
[26]
Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
[27]
Consortium on Law and Values in Health, Environment &the Life Sciences, Law School, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.
[28]
Department of Molecular and Human Genetics, Baylor College of Medicine and Baylor Miraca Genetics Laboratories, Houston, Texas, USA.
[29]
The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
[30]
Department of Pathology, Brigham &Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
[31]
主题词
公开(Disclosure);基因检测(Genetic Testing);人类(Humans);偶然发现(Incidental Findings);信息传播(Information Dissemination);实验室(Laboratories);诊疗准则(主题)(Practice Guidelines as Topic);研究报告(Research Report);样本大小(Sample Size);序列分析, DNA(Sequence Analysis, DNA)
DOI
10.1038/gim.2016.152
PMID
27811861
发布时间
2022-02-10
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Genetics in medicine
Genetics in medicine
575-582页
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