Diagnosis and monitoring of many diseases usually involves testing for a specific disease-related molecular biomarkers from a small sample of tissue. Within a single tissue, the contents and functions of individual cells vary greatly. The regulation of the genome varies from cell to cell due to different regulatory mechanisms taking control.
If we could quantify the number of biomarker molecules per cell in a diseased sample this will lead to a more personalised approach to disease. For example, getting such a profile of all of the different cell types involved on one particular person’s leukaemia would reveal the different biomarkers and their combinations that are resulting in the disease. Treatment could then be based on this detailed information.
Integrative Biology Editorial Board member Philip Day, University of Manchester, UK, and Ehsan Karimiani at the Mashhad University of Medical Sciences, Iran, present a complex but fascinating review of the steps that are being made towards personalisation of disease monitoring made possible by such a quantitative systems medicine approach to genetic biomarker analysis.
The focus is on quantitative single cell measurements for haematological malignancy monitoring. This review includes:
- Sample preparation
- The multidisciplinary future of molecular diagnostics
- Nucleic acid profiling for diagnostics
- Gene expression profiling of single cells for diagnostics
- The role of minaturisation and microfluidics in PCR
The review concludes with a look at what may be possible in the future, with Karimiani and Day emphasising that current practices need to change drastically before this personalised approach can become a reality.
For more in depth explanation, read the review in full:
Personalised treatment of haematological malignancies through systems medicine based on single molecules in single cells
Ehsan Ghayoor Karimiani and Philip Day