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Accession Number
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PB2013-101841
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Title
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Genome-Based Diagnostics: Clarifying Pathways to Clinical Use. A Workshop Summary.
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Publication Date
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2012
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Media Count
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104p
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Personal Author
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A. C. Berger S. Olson
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Abstract
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The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 (IOM, 2011b) to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value.
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Keywords
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Disease
Genomic diagnostic tests
Health care
Human genome
Therapeutic interventions
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Source Agency
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National Academy of Science Institute of Medicine
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NTIS Subject Category
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57F - Cytology, Genetics, & Molecular Biology
57E - Clinical Medicine
44 - Health Care
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Corporate Author
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Institute of Medicine, Washington, DC. Div. of Health Sciences Policy.
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Document Type
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Technical report
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Title Note
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N/A
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NTIS Issue Number
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1303
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Contract Number
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N/A
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