Identification of Genetic Alterations
A genetic alteration is a change in genetic sequence that can lead to a cancerous cell. There are many known genetic alterations. Many cancers have an identifiable abnormal genetic sequence. These alterations are sometimes called biomarkers. It is critically important your doctor knows if you have any identifiable alteration. There are many new targeted therapies that can be used to manage your cancer. You have to know what you have, so it can be matched against available treatments.
Genetic abnormalities are identified using Next Generation Sequencing. Next Generation Sequencing is an evolving category of genetic tests that analyzes your RNA and/or DNA for alterations. As a note: RNA tests have proven to provide more comprehensive information than DNA tests.
For sequencing you will need a tissue biopsy or liquid biopsy of the tumor. Liquid Biopsy is a rapidly evolving technique that may be someday as effective as a tissue biopsy.
A liquid biopsy, also known as fluid biopsy or fluid phase biopsy, is the sampling and analysis of non-solid biological tissue, primarily blood. Blood biopsy works by analyzing the circulating RNA and DNA in the blood stream that has been shed by a tumor.
Like tissue biopsy this type of technique is mainly used as a diagnostic and monitoring tool for cancer, with the added benefit of being less invasive. Therefore, it can also be done more frequently which may provide advanced monitoring of disease progression and mutation. It may also be used to validate the efficiency of a cancer treatment drug by taking multiple liquid biopsy samples in the span of a few weeks. The technology may also prove beneficial for patients after treatment to monitor relapse.