Oversight needed for clinical translation of genome-based tests

28 March 2012

The Institute of Medicine (IOM) in the US has released a new report calling for an evaluation process to assess whether ‘omics-based’ tests are valid and ready for clinical use.
Genome-Based Diagnostics: Clarifying Pathways to Clinical Use is the report from workshops on translating genomic-based research for health held at Duke University in 2010 and 2011. A more extensive report, Evolution of Translational Omics: Lessons Learned and the Path Forward, takes an even wider view of translating medical tests that involve genomic, proteomic or related technologies or knowledge.
It identifies the current lack of clearly defined development and evaluation processes as a major barrier to progress, calling for both data and analytical processes and algorithms to be made publicly available for independent review by funders and publishers.
The report also highlights lack of clarity over regulatory requirements for such tests in the US, calling for clearer guidance from the Food and Drug Administration (FDA) and earlier engagement and discussion with the FDA by test researchers and developers.

Comment: The work behind this report arose from concerns following multiple problems experienced with personalised medicine tests (gene expression profiling to guide cancer treatment) developed from research at the university – retracted papers and cancelled clinical trials - attributed to a lack of sufficiently rigorous oversight. However, the findings are likely to be broadly useful in developing a more robust approach to evaluating (and hence comparing) tests, though this will be a significant task given the highly complex nature of the data many such tests use. The next question is, who will take this forward?