As research continues to gain new insight into the role of genes in various diseases, including cancer, we now have the ability to test for certain genes known to increase risks for birth defects, cancers, heart disease, and many other maladies. Identification of predisposition mutations allow a proactive approach to inform the decision making process, proactively assess treament options, and help reduce the risk of developing a deadly disease later in life.
Genomic research continues to identify mutations associated with specific cancers and, in combination with clinical research, to identify their clinical relevance to a specific cancer and the prognosis/treatment for patients. While some mutations may be pathogenic, some are benign. Mutation profiling allows us to identify which mutations are present, determine clinical significance of those mutations, and identify pathogentic mutations with actionable therapies. To this end, mutation profiling using next generation sequencing and targeted cancer-specific panels allows us to detect mutations across multiple genes simultaneously and to screen patient susceptibility to a specific cancer.
Through genomic research, we continue to learn more about the complexity of cancer. While cancer continues to be identified by its location in the body (lung, breast, blood, etc.), we have learned that a more accurate way to evaluate cancer treatment is through examination of the underlying changes or mutations which drive cancer development and progression. Those mutations are not limited to location and, in many instances, have very little correlation with the location. Understanding the core genetic mutations which drive cancer progression allows clinicians to replace more traditional treatments with newer, less toxic, therapies that target those specific mutations.