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Redefining Remission: Proteins and Genes Working Together

By Kevin Hrusovsky, Contributed Commentary 

September 2, 2016 | Contributed Commentary | Understanding human DNA and genetic makeup has long been a focus for researchers and scientists trying to prevent the metastases of cancer and diagnose illnesses at stage zero. Numerous lives have already been saved with the discovery of the link between BRCA1 and BRCA2, and breast and ovarian cancer alone. Yet, a lot of times genes by themselves do not provide the information necessary to get a full picture of what’s currently happening in the body. Meaning, while genes can tell us the likelihood that we might develop a certain disease, they cannot tell us what is happening in our body at the particular time a genetic test is conducted.

Research shows that 70% of our health ailments are linked to environmental causes that can change over time, like our daily habits and location. In fact, a recent study from Mass General Hospital and Harvard shows that approximately 20-40% of cancer cases and half of cancer deaths could potentially be prevented if people followed healthy lifestyle habits. With this in mind, scientists are becoming increasingly interested in the study of protein biomarkers.

There are 1.1 million proteins in the human body, compared to only 20-25 thousand protein-coding genes, making proteins significantly more prevalent. Proteins reflect phenotype, which makes them a highly dependable marker for measuring disease cascade, and a molecular opportunity to see disease progression earlier than ever before. By examining proteins, doctors can get a real-time view of exactly what is happening in the body at any given moment, taking into account factors like eating and smoking habits and previous illnesses. Together with knowledge gained from genetic tests that can help determine a person’s chance of developing a certain disease, protein biomarkers make health predictions more accurate.  

 One therapeutic area where we’ve seen particular promise from the protein is in neurology. Brain trauma has been at the center of recent controversies, particularly with major sports organizations like the National Hockey League and the National Football League. Until now, brain injuries have been difficult to definitively diagnose, as tests are typically subjective and there isn’t a genetic test that can predict whether  a person may get a concussion in the future.

 Proteins like Tau, Amyloid Beta (AB), GFAP, NFL, and UCH-L1 have all shown promise of being reliable biomarkers for the diagnosis of traumatic and mild brain injuries (TBI and mTBI). A new study, published in the Journal of Neurotrauma, showed elevated levels of Tau, AB, and GFAP in those that suffered from brain injury. As proof continues to roll in for the steadfastness of these biomarkers for TBI and mTBI, scientists are already working on a blood test to detect concussions and other neurological diseases at their onset. These tests will be imperative advancements, as we are in dire need of an objective way to not only diagnose, but also quantify, the impact to the brain.

 Another therapeutic area where we have seen the potential of protein biomarker analysis is oncology. Proteins like CA-125, Chromogranin A (CgA), and Neuron-specific enolase (NSE), have all been found to be indicative of ovarian cancer, neuroendocrine tumors, and certain lung cancers and neuroblastoma, respectively. Much research has also been done to prove the reliability of prostate specific antigens (PSA) as a marker for prostate cancer. For example, recent research published in Analytical Chemistry, shows how PSA expression varies over several orders of magnitude between single prostate cancer cells, which brings us one step closer to both earlier prostate cancer detection and targeted therapy in oncology. Couple this with recent developments, published in the New England Journal of Medicine,that identify a set of genes that can distingush aggressive prostate cancer from the more common localized prostate cancer that grows slowly, and doctors would be able to tell a patient not only if they have prostate cancer at the earliest stages, but also if it’s a type that will spread quickly. Catching cancer early, especially an aggressive strain, would significantly improve treatment options.

 The study of proteins has made considerable progress over the last few years as a reliable marker for the early diagnosis of certain diseases. When it comes to our health, we will be most successful at advancing disease diagnostics if we can marry the benefits of genetic testing with protein testing.

 Kevin Hrusovsky is CEO and Executive Chairman of Quanterix. He can be reached at