Genetic tests and genomic biomarkers: regulation, qualification and validation

Novelli, Giuseppe and Ciccacci, Cinzia and Borgiani, Paola and Papaluca Amati, Marisa and Abadie, Eric (2008) Genetic tests and genomic biomarkers: regulation, qualification and validation. Clinical cases in mineral and bone metabolism, 5 (2). pp. 149-154. ISSN 1971-3266

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The identification of new risk factors for specific diseases is an enduring theme in medical research. Advances in molecular biology, genetics, and computational biology are accelerating the pace of this work. The research seeks to increase our understanding of the causes of diseases, but there is also hope that the recognition of new risk factors will lead to improved methods for identifying persons who are in the early stages of, or at high risk for, the diseases of concern. Research has shown, however, that a genomic biomarker must have a much stronger association with the disease outcome than we ordinarily see in etiologic research if it is to provide a basis for early diagnosis or prediction in individual patients. However, even if the literature contains ~150,000 reports of disease-associated molecular markers, there are still very few validated biomarkers of proven and robust clinical utility. At present there is no established, standardized means for validating the association between a marker (or set of markers) and clinical outcomes. The Regulatory Authorities have undertaken a number of initiatives in order to enhance the use of biomarkers in drug development, to promote a more informed drug development and maximise the benefit of innovative medicines to the patients

Item Type: Article
Uncontrolled Keywords: Genetic testing, Genomic Biomarkers (GBs), validation, qualification, regulation, pharmacogenomics
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 612 Fisiologia umana > 612.7 Sistema muscoloscheletrico, tegumento
Depositing User: Danilo Dezzi
Date Deposited: 16 Jan 2014 15:06
Last Modified: 17 Jan 2014 12:19

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