domingo, 25 de enero de 2015

Analytic Validity of Genomic Testing - Institute of Medicine

Analytic Validity of Genomic Testing - Institute of Medicine

Institute of Medicine of the National Academies

Discussion Paper

Note: The views expressed in discussion papers are those of the authors and not necessarily of the authors’ organizations or of the IOM. Discussion papers are intended to help inform and stimulate discussion. They have not been subjected to the review procedures of the IOM and are not reports of the IOM or of the National Research Council.
The advent of genome sequencing has changed our fundamental understanding of the underlying basis of disease. It has opened up new avenues for diagnosing disorders, provided new targets and pathways for both drug and diagnostic development efforts, and has allowed us to treat individual patients with medicines that are more effective or less deleterious. However, sequence data can have a high false positive rate and interpretation of the information remains one of the greatest challenges. This discussion paper, one of seven individually authored commentaries that explores the evidence needed to support the use of genome sequencing in the clinic, examines the challenges involved in and opportunities for demonstrating the analytic validity of a next generation sequencing-based test.

Contact Information

For More Information Contact:

Meredith Hackmann

Mailing Address

Keck Center
500 Fifth St. NW
Washington, DC 20001

Perspective Series

  1. Analytic Validity of Genomic Testing
  2. Variant Validity (Selected vs. General Population)
  3. Clinical Utility: Informing Treatment Decisions by Changing the Paradigm
  4. Evaluating the Clinical Utility of Genomic Variants Derived from Next-Generation Sequencing for Opportunistic Disease Screening and Risk Assessment: Evidence Gaps and Priorities
  5. The Cost-Effectiveness of Clinical Sequencing
  6. Return of Anticipated and Incidental Results from Next-Generation Sequencing: Implications for Providers and Patients
  7. Implementation of Pharmacogenomics: Evidence Needs

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