Commercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratory

Human Mutation
Jean Amos, Meeta Patnaik

Abstract

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. Oversig...Continue Reading

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Citations

Jan 28, 2003·Drug Discovery Today·Jeffrey S Ross, Geoffrey S Ginsburg
Jan 15, 2003·Annual Review of Medicine·Pamela Sankar
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Apr 29, 2005·Journal of the American Academy of Dermatology·J Andrew CarlsonMartin Mihm
Dec 15, 2005·Analytical Chemistry·Eric TanAngelika Niemz

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