Combining Tests Improves Rate of Diagnosis for Neutropenia


Neutropenia is a rare condition that affects approximately 1 in every 200,000 newborns. It results in a reduced number of neutrophils in the body. Neutrophils are white blood cells, critical for fighting bacteria infections. This means that for patients with Neutropenia, even bacterial infections which are normally easy for the body to combat can be life-threatening.

Neutropenia is notoriously difficult to diagnose. Genomic sequencing is the diagnostic tool most commonly used but, it fails to accurately diagnose up to half of the individuals it tests. Researchers believed there had to be a better way, and set about to find one.

The Study

Researchers in Germany successfully utilized genomics in combination with proteomics to diagnose neutropenia in two patients who had been living without answers. These two individuals were children who had received typical genomic sequencing without avail.

The cause of neutropenia in both of these children was a result of a mutation known to cause the disease. One had a pseudogene which made the mutation difficult to identify and the other child’s mutation was missed simply because of incomplete coverage in the exome sequencing. However, by using proteomics, researchers were able to analyze protein abundance in the patients, run a secondary analysis, and finally provide them a diagnosis.

How does proteomics work?

It’s actually a rather simple concept. All it involves is analyzing the proteins within the patient’s neutrophils. But it is difficult because neutrophils are so fragile. Thankfully, Sebastian Hesse came up with a way to carefully collect the proteins from the neutrophils. They collected these proteins from healthy neutrophils first and with these, were able to establish a baseline from which to evaluate patients.

Researchers than analyzed this baseline to 16 patients who were diagnosed with neutropenia, and were able to document the differences.

“There are very few examples of people who use multiple ‘-omics’ to investigate rare diseases … [but] I think this is the future of personalized medicine.”-  Christoph Klein, Senior Author of the study

You can read the full study here, which was published in Molecular & Cellular Proteomics.

This same research team will report novel genetic causes of this disease which they uncovered using proteomics in an upcoming paper.

Looking Forward

Not only do these researchers believe that using multiple diagnostic methods will provide better outcomes for patients, they believe its use will evolve quickly. Specifically, they say that proteomic analysis has a great potential to be a low-cost addition for clinicians in the near future.

You can read more about the combination of proteomics and genomic sequencing here.

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