How can metabolomics help in clinical diagnosis?

Dr Giuseppe Giordano - University of Padua, Padua, Italy

Metabolomics is a holistic approach on detecting all possible metabolites. This type of application is normally without an a priori hypothesis; that means that we are to look for profiling and try to find out the difference between affected patients and control patients. On the basis of that you are able to extract the information and maybe to find out a possible biomarker.

Can you give us an example of a metabolite associated with a disease?

Some simple examples and a very easy example is a single gene mutation, for instance a metabolic disease like the 3-beta–steroid dehydrogenase deficiency is related to a metabolic defect on the metabolism. In that case you can easily distinguish the two groups, control and affected patients, because there is a major increase in accumulation of this specific metabolite. But in the case of other types of disease where it’s not a single mutation but is multifactorial disease generated from environment or other type, the type of profiling can generate some metabolites but in most of the cases are just profiling. This profiling can be related to this pathology and you are able to distinguish a fingerprint of affected from control. An example is asthma, heart disease, obesity and diabetes and so on.

What analytical techniques are used in metabolomics studies?

At the beginning, around 2000, Jeremy Nicholson, in the group of Jeremy, started with a metabolomics base on NMR resonance. The application from that point started to develop a lot, particularly the development of a statistical model like multivariant analysis and this approach was applied to pharmacology and medicine but with a new technology like mass spectrometry that was approached later and it started to become the more important type of instrumentation applied to this type of study. In particular because you are able to interface this type of instrumentation, chromatography, led to open up a major higher spectrum of metabolites and with a high resolution and high accuracy you are able to do identification, quantification and so on. But the best situation is to use both types of techniques that are complementary to each other to get the maximum information on this holistic approach to metabolites.

How will metabolomics be used in future clinical applications?

The more important support that maybe metabolomics can give to us in the future, for sure, to help on the diagnosis part, particularly to help medicine or clinicians to make a decision. The other thing is to predict in advance any type of status of this type of disease or follow the pharmaceutical treatment – if it’s toxic or not or is more convenient to do that with this type of treatment. Other types of application are more oriented on the personalised medicine in future, maybe metabolomics can help to go in this direction. The other thing is to help more and more the physician, and the clinician in this case, to make a decision.