Genome-Based Diagnostics: Clarifying Pathways to Clinical Use - Workshop Report
- March 20, 2012
- Workshop Report
- Biomedical and Health Research, Public Health
- Roundtable on Translating Genomic-Based Research for Health
- Board on Health Sciences Policy
Note: Workshop Summaries contain the opinion of the presenters, but do NOT reflect the conclusions of the IOM. Learn more about the differences between Workshop Summaries and Consensus Reports.As more and more links have been made between specific genetic variants and diseases, scientists have developed genome-based diagnostic tests to make personalized treatment possible. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. However, because evidence is lacking to show that these tests will lead to an improved outcome, adoption of these diagnostics has been limited.
The IOM’s Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to examine how evidence is viewed by different stakeholders and current approaches for generating evidence. This workshop examined issues which are currently preventing the development of evidence and explored innovative approaches for generating evidence to enable the development of genomic diagnostic tests of clinical value.
On November 15, 2011, the Roundtable held a follow-up workshop to further discuss the differences in evidence required for clinical use, regulatory oversight, guideline inclusion, coverage, and reimbursement of genomic diagnostic tests. The goal of the workshop was to clarify pathways for using such tests in clinical settings. This document summarizes the workshop.