Glossary

Artificial intelligence (AI) refers to a computer system capable of performing complex tasks that historically only a human could do, such as reasoning, making decisions, or solving problems. The goal for AI is to be able to do things such as recognize patterns, make decisions, and judge like humans.

Biomarkers are biological molecules found in blood, other body fluids, or tissues that is a sign of a normal or abnormal process, or of a condition or disease. A biomarker may be used to see how well the body responds to a treatment for a disease or condition. Biomarker testing is a way to look for genes, proteins, and other substances (called biomarkers or tumor markers) that can provide information about cancer.

A clinical decision support system (CDSS) is an application that analyzes data to assist healthcare providers in making decisions and enhancing patient care. CDSSs are computerized systems that utilize data analytics within electronic health records to analyze a patient’s medical data, which can be sent from medical devices in real-time. Subsequently, the system provides the patient’s condition to a doctor, enabling the doctor to make prescriptive decisions for the patient promptly.

Clinical trials are studies of new drugs, procedures, and other treatments for people. Doctors use clinical trials to develop new treatments for serious diseases such as cancer. They also help doctors improve the quality of life for people with cancer by testing ways to manage the side effects of cancer and its treatment.

Chemotherapy is the use of chemical agents to stop cancer cells from growing. Such category of drugs stops the growth of cancer cells, either by killing the cells or by stopping them from dividing. Chemotherapy may be given by mouth, injection, or infusion, or on the skin, depending on the type and stage of the cancer being treated.

Combination therapy is the simultaneous administration of two or more medications to treat a single disease or the administration of a combination drug, which is a dosage form that contains more than one active ingredient.

Molecular profiling is a laboratory technique that analyzes tissue, blood, or other body fluids to detect specific genes, proteins, or molecules indicating diseases like cancer. It can identify genetic or chromosomal changes that raise cancer risks. Often combined with biopsies, it aids in cancer diagnosis and treatment planning. Additionally, it assesses treatment effectiveness, predicts prognosis, and anticipates cancer recurrence or spread.

Somatic Testing

Definition: Somatic testing looks at the DNA of cancer cells to find genetic changes (mutations) that happened in the tumor during a person’s life. These changes are not inherited.

Purpose: Urologists and oncologists use somatic testing to:

• Find specific genetic changes in cancer cells.
• Choose the best treatments.
• Understand how the cancer might behave or respond to treatments.

Germline Testing

Definition: Germline testing looks at the DNA of normal cells to find inherited genetic mutations present from birth. These mutations are in every cell of the body and can be passed to children.

Purpose: Urologists and oncologists use germline testing to:

• Find inherited genetic mutations that increase the risk of certain cancers.
• Guide decisions about cancer screening and prevention for the patient and their family.
• Help choose treatments based on inherited genetic risks.

These tests help doctors personalize cancer care by tailoring prevention, diagnosis, and treatment strategies to the individual’s genetic profile.

The Genome is the complete set of DNA (genetic material) in an organism. In human beings almost every cell in the body contains a complete copy of the genome. The genome contains all the information needed for a person to develop and grow.

DNA damage is an alteration in the chemical structure of DNA, such as a break in a strand of DNA, a nucleobase missing from the backbone of DNA. Some of the more common genomic alterations include copy number variations, including amplification or deletion of genomic regions.

Germline refers to the sex cells (eggs and sperm) that sexually reproducing organisms use to pass on their genomes from one generation to the next (parents to offspring). Egg and sperm cells are called germ cells, in contrast to the other cells of the body, which are called somatic cells. The germline test assesses a blood sample for variants associated with hereditary cancer risk.

Hormone Therapy is a treatment that adds, blocks, or removes hormones. In patients with prostate cancer, hormone therapy blocks or lowers the amount of testosterone in the body. This can lower the risk of prostate cancer coming back when you have it with other treatments. There are different ways of having hormone therapy such as injections, tablets, or surgery to remove testicles (orchidectomy).

The homologous recombination repair (HRR) pathway is a process in cells where a group of proteins work together to fix damaged DNA. When this repair process doesn’t work properly, it can lead to diseases like cancer. Scientists are studying drugs that can influence this pathway to help prevent and treat cancer and other diseases.