Arpil 2010

Beyond Genetics: Human Health and Diagnostics Advanced by Ion Analysis Methods

Preserving, monitoring and improving human health is one of the most important concerns of all individuals and societies. From the prominent social position of a shaman in a primitive village to the sizable budgets modern societies have decided to devote to health care, it is without doubt that preserving good health is pretty close to the top of the list of human priorities. However it has only been a few short decades that mankind has started probing into the inner workings of biological organisms and we can start making connections between the molecular state of biological fluids and the health state of an individual. Knowledge created in the biochemical research lab is slowly making its way into clinical practice via the diagnostics lab.

Before the diagnostics lab era, medicine had to rely on expert observation of macro-symptoms to assess the health state of individuals. Actually it was the sickness state of individuals that medical professionals had to assess, as it has been (and still is) quite unusual for someone to see a doctor until they were acutely ill. Considering the variety of quite diverse causes that can produce a certain combination of similar symptoms, successful diagnosis requires a highly trained and experienced professional (and occasionally some luck).

Genetics, the study of DNA and RNA molecules that hold and make use of genetic code for all living organisms, is already used for valuable diagnostic and prognostic applications (Polymerase Chain Reaction (PCR) and Single Nucleotide Polymorphism (SNIPS) based methods). DNA and RNA based diagnostics still hold great promise for further understanding of human physiology as well as for identifying pathogens. A lot of research has been devoted to studying the genetic code of living creatures and many attempts are being made to create and establish diagnostic assays based on genetics analysis technologies. Many success stories have been achieved, like the identification of pathogens (including viruses) and genetic tests for predisposal to cancer or other disease.

Despite these, it has been proven elusive to develop specific diagnostic tests for a wide variety of disease states based on genetic methods alone. Individuals with identical DNA may develop very different conditions based on environment (and luck). The immune system, which is critical to health of an individual and is almost totally acquired, is not exclusively dependent on one’s genes. It turns out that in order to link molecular make-up with health state one has to look further downstream into proteins and metabolites. And this is something mass spectrometry is very good at, arguably better than immunology-based methods, the current gold standard (see this article).

In truth, molecular probing methods, including PCR, mass spectrometry or immunological methods, are nowhere near ready to substitute an expert diagnosis from a medical professional. Our understanding of the intertwinings of the complex biological pathways and networks is limited indeed. There are a lot of established diagnostics tests looking at protein, glycan or lipid biomarkers which help health professionals and some extremely bright success stories that set the scene for the next revolution in health care. For example, the MSMS neonatal screening test, which is a mass spectrometric analysis of a tiny amount of blood sample from a newborn baby; it can provide early warning for a number of genetic disorders in a dependable and economical basis and is changing lives now. The large numbers of “biomarkers” being discovered using mass spectrometric methods by many research groups around the world, have started linking unambiguously molecular abundance with disease states; a large body of evidence  is being amassed that, together with the continuing advancement of ion analytical methods, may help improve the health of the average human in the near future.

Emmanuel Raptakis

CEO Fasmatech Science and Technology