Glossary of Terms

DNA (Deoxyribonucleic Acid)

DNA is the chemical name for the molecule that carries genetic instructions in all living things. The DNA molecule consists of two strands that wind around one another to form a shape known as a double helix. Each strand has a backbone made of alternating sugar (deoxyribose) and phosphate groups. Attached to each sugar is one of four bases–adenine (A), cytosine (C), guanine (G), and thymine (T). The two strands are held together by bonds between the bases; adenine bonds with thymine, and cytosine bonds with guanine. The sequence of the bases along the backbones serves as instructions for assembling protein and RNA molecules.

Family History

A family history is a record of medical information about an individual and their biological family. Human genetic data is becoming more prevalent and easy to obtain. Increasingly, this data is being used to identify individuals who are at increased risk for developing genetic disorders that run in families.

Gene

The gene is the basic physical unit of inheritance. Genes are passed from parents to offspring and contain the information needed to specify traits. Genes are arranged, one after another, on structures called chromosomes. A chromosome contains a single, long DNA molecule, only a portion of which corresponds to a single gene. Humans have approximately 20,000 genes arranged on their chromosomes.

Genetic Discrimination

Genetic discrimination is prejudice directed against people who have or may be predisposed to have a genetic disease (genetic status). Genetic discrimination can involve being denied employment, health insurance or other benefits.

Genetic Information

Genetic information includes information about an individual’s genetic tests and the genetic tests of an individual’s family members, as well as information about the manifestation of a disease or disorder in an individual’s family members (i.e. family medical history). Family medical history is included in the definition of genetic information because it is often used to determine whether someone has an increased risk of getting a disease, disorder, or condition in the future. Genetic information also includes an individual’s request for, or receipt of, genetic services, or the participation in clinical research that includes genetic services by the individual or a family member of the individual, and the genetic information of a fetus carried by an individual or by a pregnant woman who is a family member of the individual and the genetic information of any embryo legally held by the individual or family member using an assisted reproductive technology.

Genetic Privacy

The protection of genetic information about an individual, family, or population group, from unauthorized disclosure.

Genetic Testing

Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. The results of a genetic test can be used to confirm or rule out a suspected genetic disease, predisposition to a disease or to determine the likelihood of a person passing on a mutation to their offspring. Genetic testing may be performed prenatally or after birth. Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counselor.