Expression Tests in Actual Clinical Practice: How Medically Useful is the Transcriptome?

  • Bertrand R. JordanEmail author


Expression profiling has proved itself as a discovery tool, and has generated great expectations for use in molecular diagnostics. Microarray technology, available in robust industrial-strength implementation since the late 1990s, appeared well adapted to assess properties of tumours through expression profiling, and received much attention in the last decade. It was expected to provide prognostic information (how is the condition likely to develop) as well as predictive indications on the therapy most likely to succeed. However, requirements for a clinical test are quite different from those applying to a research tool. The test must demonstrate analytical validity (technical quality of the assay, reproducibility, robustness…) as well as clinical validity, strong correlation between the result of the test and clinical outcomes such as progression-free survival. The test also needs approval by regulatory authorities, and proven clinical utility: demonstrated improvement of the outcome for the patient in terms of survival, or reduction of toxic side effects. Cost considerations also enter the picture, since these are expensive tests. Thus the road from a scientific result to a successful diagnostic tool is long and arduous, and the number of expression signatures actually used in medical practice is limited. Different approaches can be implemented: for small sets of genes, RT-PCR is the method of choice. For larger numbers, hundreds or thousands of genes, microarrays are the preferred tools. In addition, approaches based on new-generation sequencing will undoubtedly play a role in the future.


FFPE Sample Expression Test Genomic Health Lymph Node Disease Unnecessary Chemotherapy 
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Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  1. 1.Marseille Medical SchoolAix-Marseille Université/EFS/CNRSMarseilleFrance

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