Document Detail

Commercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratory.
MedLine Citation:
PMID:  11933187     Owner:  NLM     Status:  MEDLINE    
Molecular diagnosis is the detection of pathogenic mutations in DNA and RNA samples to aid in detection, diagnosis, subclassification, prognosis, and monitoring response to therapy. Principles underlying nucleic-based diagnosis originate from localization, identification, and characterization of genes responsible for human disease. Clinical molecular genetics is now part of the mainstream of medical care in the United States. All commercial clinical reference laboratories now have a molecular genetic diagnostic unit, many of which are in contractual agreement with third party payers to provide services. Gene discovery provides valuable insight into the mechanisms of disease processes and gene-based markers will enable clinicians to study disease predisposition, as well as improved methods for diagnoses, prognosis, and monitoring of therapy. The broad range of mutation spectrum and type performed in the clinical laboratory requires the use of multiple technologies rather than a single typing platform. Platform choice depends on such diverse factors as local expertise, test volume, economies of scale, R&D budget, and royalties. Test validation is a major hurdle and positive control samples are often not readily available. Oversight and the regulatory environment for clinical molecular genetics laboratories in the United States are evolving rapidly. Several government agencies and private organizations are currently involved in revision of specific laboratory standards, including the Secretary's Advisory Committee on Genetic Testing (SACGT), Food and Drug Administration (FDA), Center for Disease Control (CDC), College of American Pathologists (CAP), American College of Medical Genetics (ACMG), and the individual states.
Jean Amos; Meeta Patnaik
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Human mutation     Volume:  19     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2002 Apr 
Date Detail:
Created Date:  2002-04-04     Completed Date:  2002-08-30     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  324-33     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Specialty Laboratories, Santa Monica, California, USA.
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MeSH Terms
DNA Mutational Analysis / economics,  methods
Diagnostic Tests, Routine / economics,  methods,  trends
Genetic Testing / economics,  methods*,  trends*
Genetics, Medical / economics,  methods*,  trends*
Human Genome Project*
Intellectual Property
Molecular Biology / methods,  trends
United States
United States Food and Drug Administration

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

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