Glossary

  • Amplified
    A gene that is more highly expressed than others. For example, the ERBB2 gene is frequently amplified in breast tumors.
  • Assay
    A procedure for testing and/or measuring the presence, absence, or activity of a drug in an organism.
  • Benign Tumor
    Growth that is not cancer. The tumor does not invade nearby tissue or spread to other parts of the body.
  • Bioinformatics
    The application of information technology to the field of molecular biology. More specifically, it is the science of using computers, databases, and math to organize and analyze large amounts of biological, medical, and health information. Information may come from many sources including patient statistics, tissue specimens, genetics research, and clinical trials.
  • Biomarker
    A biological feature that can be objectively measured and used to predict or detect the progression of disease or the effects of treatment.
  • Biopsy
    The removal of cells or tissues for examination. There are many different types of biopsy procedures. The most common types include
    • Incisional biopsy, in which only a sample of tissue is removed.
    • Excisional biopsy, in which an entire lump or suspicious area is removed.
    • Needle biopsy, in which a sample of tissue or fluid is removed with a needle. When a wide needle is used, the procedure is called a core biopsy. When a thin needle is used, the procedure is called a fine-needle aspiration biopsy.
  • Cells
    The basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life.
  • CLIA
    Clinical Laboratory Improvement Amendments
  • Clinical Trial
    A type of research study that tests how well new medical approaches work in people. These studies test new methods of screening, prevention, diagnosis, or treatment of a disease. Also known as a “clinical study.” There are four types of clinical trials:
    • Phase I: The first step in testing a new treatment in humans. These studies test the best way to give a new treatment (for example, by mouth, intravenous infusion, or injection) and the best dose. The dose is usually increased a little at a time in order to find the highest dose that does not cause harmful side effects. Because little is known about the possible risks and benefits of the treatments being tested, Phase I trials usually include only a small number of patients who have not been helped by other treatments.
    • Phase II: A study to test whether a new treatment has an anticancer effect (for example, whether it shrinks a tumor or improves blood test results) and whether it works against a certain type of cancer.
    • Phase III: A study to compare the results of people taking a new treatment with the results of people taking the standard treatment (for example, which group has better survival rates or fewer side effects). In most cases, studies move into Phase III only after a treatment seems to work in Phases I and II. Phase III trials may include hundreds of people.
    • Phase IV: After a treatment has been approved and is being marketed, it is studied in a Phase IV trial to evaluate side effects that were not apparent in the Phase III trial. Thousands of people are involved in a Phase IV trial.
  • Diagnostic Procedure
    Specific test or series of steps done to help diagnose a disease or condition. Mammograms and colonoscopies are examples of diagnostic procedures.
  • Disease
    An abnormal condition of an organism that impairs bodily functions associated with specific symptoms and signs.
  • DNA
    Deoxyribonucleic Acid. Genetic material that in humans is one of two types of molecules that encode genetic information.
  • DNA Microarray
    Tools used to analyze and measure the activity of genes. Researchers can use microarrays and other methods to measure changes in gene expression and thereby learn how cells respond to a disease.
  • EMR
    Electronic Medical Record
  • First-line/Second-line Therapies
    A medical therapy recommended for the treatment of a disease, sign, or symptom.
  • Gene
    The basic biological unit of heredity in a living organism. Genes hold the information to build and maintain an organism’s cells and pass genetic traits to offspring.
  • Gene Expression
    The translation of information encoded in a gene into protein or RNA. The genetic code is “interpreted” by gene expression, and the properties of the expression products result in the observable characteristics or traits of an organism.
  • Genome
    An entire set of 23 human chromosome pairs.
  • Genomics
    The study of the genomes of organisms. This field includes intensive efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping efforts.
  • Genotype
    The genotype of an organism is the inherited instructions it carries within its genetic code. Not all organisms with the same genotype look or act the same way because appearance and behavior are modified by environmental and developmental conditions. Similarly, not all organisms that look alike necessarily have the same genotype.
  • HIPAA
    Health Insurance Portability and Accountability Act (HIPAA) of 1996 was enacted by the U.S. Congress in 1996. This is intended to help people keep their information private, though in practice it is normal for providers and health insurance plans to require the waiver of HIPAA rights as a condition of service.
  • Malignancy
    A term for diseases in which abnormal cells divide without control and can invade nearby tissues. Malignant cells can also spread to other parts of the body through the blood and lymph systems. There are several main types of malignancy:
    • Carcinoma: Begins in the skin or in tissues that line or cover internal organs.
    • Sarcoma: Begins in bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue.
    • Leukemia: Begins in blood-forming tissue such as the bone marrow, and causes large numbers of abnormal blood cells to be produced and enter the blood.
    • Lymphoma and Multiple Myeloma: Begin in the cells of the immune system.
    • Central Nervous System Cancers: Begin in the tissues of the brain and spinal cord.
  • Metastatic
    Having to do with metastasis, which is the spread of cancer from the primary site (where it started) to other places in the body.
  • Microarrays
    A multiplex lab on a chip. It is a 2D array (usually on a glass slide or silicon thin-film cell) that assays large amounts of biological matter using a variety of screening methods.
  • Molecular Markers
    A substance that is introduced in an organism as a way to examine something. Molecular markers are used in molecular biology and biotechnology experiments where they are used to identify a particular sequence of DNA.
  • Molecular Targeted Therapy
    A type of medication that blocks the growth of cancer cells by interfering with targeted molecules needed for tumor growth instead of interfering with rapidly dividing cells.
  • Nosology
    A branch of medicine that deals with classification of diseases.
  • Oncology
    The study of cancer.
  • Personalized Medicine
    Treatments that use information about a person’s genes, proteins, and environment to prevent, diagnose, and treat disease.
  • Pharmacogenomics
    The study of how a person’s genes affect the way that person responds to drugs. Also known as Pharmacogenetics.
  • PMAS
    Personalized Medicine Analysis System. Intervention Insights' patented system for analyzing a patient’s information using a series of algorithms to identify key drug targets or signatures of drug response/resistance.
  • RNA
    Ribonucleic acid. A biologically important molecule that consists of a long chain of nucleotide units. Each nucleotide consists of a nitrogeneous base, a ribose sugar, and a phosphate.
  • SNP
    Single Nucleotide Polymorphism. Variation at a single base pair of chromosomes about 10 million SNPs in the human genome, which account for differences between people. Some differences account for things like hair color, some for how our body’s handle disease, many have no discernable affect.
  • Tissue
    A group or layer of cells that work together to perform a specific function.
  • Translational Research
    The process by which the results of research done in the laboratory are used to develop new ways to diagnose and treat disease.
  • Tumor
    An abnormal mass of tissue that results when cells divide more than they should or do not die when they should. Tumors may be benign (not cancer), or malignant (cancer). Also known as neoplasm.