Expression Profiling for Diagnostics

  • Bertrand Jordan


Expression profiling was the first application of DNA arrays, with high hopes for clinical applications but also serious technical and statistical issues in the initial studies. Once these problems were under control, several potentially useful tests emerged and obtained regulatory approval, in particular, the Agendia MammaPrint test designed to evaluate the risk of metastasis in breast cancer (and suffering competition from the Genomic Health Oncotype test based on qPCR), as well as other tests aimed at tumours of unknown origin, myeloid leukaemia or very early diagnosis of lung cancer, to give a few examples. Expression profiling tests, while they have met with some success, have not enjoyed the wide acceptance anticipated in the early 2000s, largely because of the difficulty of proving clinical utility as well as of competition from PCR approaches and, in the near future, of new-generation sequencing.

As indicated in the preceding chapter, it is useful to consider separately expression profiling and genotyping applications since many technical and regulatory issues are markedly different between them. In this chapter, we will discuss expression profiling, as this was historically the first major application of DNA arrays.  Chapter 4 will examine genotype characterisation (simple and complex), and the important field of whole-genome assay for copy number variations (CNVs) will be treated in a specific chapter,  Chap. 5, as it includes many clinical applications and generates a high level of scientific and commercial activity.


Predictive Information FFPE Sample Expression Test Genomic Health Early Lung Cancer 
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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  1. 1.CoReBio PACAMarseille, Cedex 9France

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