Document Detail

Status of clinical gene sequencing data reporting and associated risks for information loss.
MedLine Citation:
PMID:  16617035     Owner:  NLM     Status:  MEDLINE    
Clinical gene sequencing is growing in importance and cost-effectiveness. In the past two years, the number of genes associated with disease has grown by roughly 25%. Knowledge of genetic variations will soon guide drug selection and dosages, predict risks from toxin exposures, and inform nutritional needs. Despite the significance of sequencing, methods for reporting results are problematic. Frequent use of paper and infrequent use of naming standards impede data exchange and make incorporation into the electronic medical record difficult. Reports often describe only variations found, rather than all data (all patient bases sequenced). Also, reports frequently do not describe reference data used to define variations. These practices create risks for loss of both data and information. Standardized electronic reporting of all data (all bases sequenced and all reference data) and electronic record systems capable of storing these results would both prevent data loss and simplify the preservation of information those data provide.
Douglas R Mitchell; Joyce A Mitchell
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Publication Detail:
Type:  Journal Article; Review     Date:  2006-03-15
Journal Detail:
Title:  Journal of biomedical informatics     Volume:  40     ISSN:  1532-0480     ISO Abbreviation:  J Biomed Inform     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2006-12-04     Completed Date:  2006-12-28     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  100970413     Medline TA:  J Biomed Inform     Country:  United States    
Other Details:
Languages:  eng     Pagination:  47-54     Citation Subset:  IM    
Department of Health Management and Informatics, University of Missouri, 324 Clark Hall, Columbia, MO 65211, USA. <>
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MeSH Terms
Computer Security / trends*
Database Management Systems
Databases, Genetic*
Decision Support Systems, Clinical / trends*
Genetic Predisposition to Disease / genetics
Genetic Testing / trends
Genomics / trends
Information Storage and Retrieval / methods,  trends*
Medical Records Systems, Computerized / trends*
Research Design / trends
Risk Assessment / methods*,  trends
Risk Factors
Sequence Analysis, DNA / methods*,  trends
Systems Integration
User-Computer Interface

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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