|
|
| [PMID]: | 27181682 |
| [Au] Autor: | 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; CSER Consortium |
| [Ad] Endereço: | 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. |
| [Ti] Título: | Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. |
| [So] Source: | Am J Hum Genet;98(6):1051-1066, 2016 Jun 02. | | [Is] ISSN: | 1537-6605 |
| [Cp] País de publicação: | United States |
| [La] Idioma: | eng |
| [Ab] Resumo: | 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. |
| [Mh] Termos MeSH primário: |
Pesquisa Biomédica
Prática Clínica Baseada em Evidências
Exoma/genética
Genoma Humano
Genômica/métodos
Sequenciamento de Nucleotídeos em Larga Escala/métodos
Polimorfismo de Nucleotídeo Único/genética
|
| [Mh] Termos MeSH secundário: |
Adulto
Doenças Cardiovasculares/genética
Criança
Ensaios Clínicos como Assunto
Seres Humanos
National Human Genome Research Institute (U.S.)
Grupos Populacionais
Software
Estados Unidos
|
| [Pt] Tipo de publicação: | JOURNAL ARTICLE |
| [Em] Mês de entrada: | 1705 |
| [Cu] Atualização por classe: | 171027 |
[Lr] Data última revisão:
| 171027 |
| [Sb] Subgrupo de revista: | IM |
| [Da] Data de entrada para processamento: | 160517 |
| [St] Status: | MEDLINE |
| |
|
|
