Rapid advancements in the power of genetic sequencers, combined with new insights into the workings of cancer on the molecular level, are the key ingredients in SCCA’s diagnostic tool, UW-OncoPlex.
Disrupting Cancer’s Pathways
In laboratories around the world, researchers have successfully identified how specific genes operate via molecular pathways. These pathways transmit signals that regulate the cell by activating or suppressing key genes. In one well-known example, the pathway controls cell division. When the governing gene is mutated, the pathway fails to stop cell division when it is complete. The cell keeps replicating itself out of control—and the result is cancer.
Using a variety of techniques, drug developers have learned to disrupt faulty pathways. Some drugs use a monoclonal antibody to block a receptor site; that way, the genes in the nucleus never get the corrupted signal. Other agents neutralize the signals that cancers use to turn off or confuse the body’s natural defenders—T-cells. The re-educated T-cells can then attack and kill the cancer.
Naturally, the researchers developing these drugs hoped they would be broadly effective in treating a general type of cancer—be it prostate, breast, or colon cancer. However, doctors noticed that most drugs were quite effective for a minority of patients, and useless or harmful for the rest.
Next Generation Sequencing Targets Actionable Mutations
This is where genetic sequencing enters the picture. With the advent of Next Generation Sequencing (NGS) in 2007, it became possible to sequence the genome of individual patients’ tumors. That’s how researchers were able to spot correlations between a mutation in a specific gene and the patient’s likelihood of responding to a particular drug.
NGS refers to the new sequencing technology that replaced Sanger sequencing—the original technique used to sequence the human genome, which took more than a dozen years and cost nearly $3 billion. Today, using NGS, it’s possible to sequence an individual’s genome in approximately one week for a cost of $10,000.
The human genome consists of about 25,000 genes, yet for the purposes of cancer diagnosis and treatment there are only about 200 genes that are currently actionable. That’s why UW-OncoPlex trains its full power on a select panel of genes of interest. As a result, the system provides a rich, deep set of data designed specifically for cancer doctors and their patients.