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Microarray-based gene expression profiling shows promise for diagnosing diseases like leukemia. However, challenges remain before blood transcriptomics becomes a routine diagnostic tool.

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Area of Science:

  • Molecular biology
  • Genomics
  • Medical diagnostics

Background:

  • Gene expression profiling using microarrays was first proposed for leukemia diagnosis in 1999.
  • Numerous studies have explored blood transcriptomics for various diseases, including malignancies, infections, and cardiovascular conditions.
  • Despite extensive research, no microarray-based blood transcriptomic test is currently established for routine diagnostics.

Purpose of the Study:

  • To review advances in blood transcriptomics over the past decade.
  • To critically evaluate the challenges hindering the clinical application of blood transcriptomics.
  • To discuss the potential of blood transcriptomics in diagnosing leukemias and other diseases.

Main Methods:

  • Review of scientific literature on blood transcriptomics and microarray technology.
  • Analysis of studies investigating gene expression profiling in peripheral blood.
  • Critical discussion of diagnostic and technical challenges.

Main Results:

  • Significant progress has been made in blood transcriptomics over the last 10 years.
  • Key challenges include standardization, data interpretation, and clinical validation.
  • The potential for diagnosing leukemias and other blood-related diseases exists but requires further development.

Conclusions:

  • Blood transcriptomics holds promise for future diagnostics, particularly in hematological malignancies.
  • Overcoming current limitations is crucial for integrating blood transcriptomics into clinical practice.
  • Further research and development are needed to establish reliable and validated diagnostic tests.