Documents in the NTIS Technical Reports collection are the results of federally funded research. They are directly submitted to or collected by NTIS from Federal agencies for permanent accessibility to industry, academia and the public.  Before purchasing from NTIS, you may want to check for free access from (1) the issuing organization's website; (2) the U.S. Government Printing Office's Federal Digital System website; (3) the federal government Internet portal; or (4) a web search conducted using a commercial search engine such as
Accession Number PB2013-101841
Title Genome-Based Diagnostics: Clarifying Pathways to Clinical Use. A Workshop Summary.
Publication Date 2012
Media Count 104p
Personal Author A. C. Berger S. Olson
Abstract 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.
Keywords Disease
Genomic diagnostic tests
Health care
Human genome
Therapeutic interventions

Source Agency National Academy of Science Institute of Medicine
NTIS Subject Category 57F - Cytology, Genetics, & Molecular Biology
57E - Clinical Medicine
44 - Health Care
Corporate Author Institute of Medicine, Washington, DC. Div. of Health Sciences Policy.
Document Type Technical report
Title Note N/A
NTIS Issue Number 1303
Contract Number N/A

Science and Technology Highlights

See a sampling of the latest scientific, technical and engineering information from NTIS in the NTIS Technical Reports Newsletter

Acrobat Reader Mobile    Acrobat Reader