Glossary

A short-term educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling provides patients with information about their condition and helps them make informed decisions.

Prejudice against those who have or are likely to develop an inherited disorder.

A disease that has its origin in changes to the genetic material. Usually refers to diseases that are inherited in a Mendelian fashion, although non-inherited forms may also result from DNA mutation.

The heritable variation within and among populations which is created, enhanced or maintained by evolutionary forces.

Changes in the genetic constitution of cells (apart from selective breeding) resulting from the introduction or elimination of specific genes through modern molecular biology techniques. This technology is based on the use of a vector for transferring useful genetic information from a donor organism into a cell or organism that does not possess it.A broader definition of genetic engineering also includes selective breeding and other means of artificial selection.

A segment of DNA with an identifiable physical location on a chromosome and whose inheritance can be followed. A marker can be a gene, or it can be some section of DNA with no known function. Because DNA segments that lie near each other on a chromosome tend to be inherited together, markers are often used as indirect ways of tracking the inheritance pattern of a gene that has not yet been identified, but whose approximate location is known.

A number of techniques, such as selective breeding, mutagenesis, transposon insertions and recombinant DNA technology, that are used to alter the genetic material of cells in order to make them capable of producing new substances, performing new functions or blocking the production of substances.

Susceptibility to disease that is related to a genetic predisposition mutation, which may or may not result in actual development of the disease.

Testing a population group to identify a subset of individuals at high risk for having or transmitting a specific genetic disorder.

Tests to identify persons who have an inherited predisposition to a certain phenotype or who are at risk of producing offspring with inherited diseases or disorders.

The analysis of an individual’s genetic material. Genetic testing can be used to gather information on an individual’s genetic predisposition to a particular health condition, or to confirm a diagnosis of genetic disease.

The study of how particular traits are passed from parents to children. Identifiable genetic information receives the same level of protection as other health care information under the HIPAA Privacy Rule. Of note for genetic researchers, the rule defines "identifiable" information to include information from the individual as well as relatives. Thus researchers considering whether to deidentify data should review the definition of deidentified information closely.

The scientific study of heredity: how particular qualities or traits are transmitted from parents to offspring.

The full complement of chromosomes and extra-chromosomal DNA coding for cellular proteins contained within each cell of a given species. Its size is generally given as total number of base pairs.

Research and technology development effort aimed at mapping and sequencing some or all of the genome human beings and other organisms.

A collection of clones made from a set of randomly generated overlapping DNA fragments representing the entire genome of an organism.

The order of the subunits, called bases, that makes up a particular fragment of DNA in a genome. DNA is a long molecule made up of four different kinds of bases, which are abbreviated A, C, T, and G. A DNA fragment that is 10 bases long might have a base sequence of, for example, ATCGTTCCTG. The particular sequence of bases encodes important information in an individual’s genetic blueprint, and is unique for each individual (except identical twins).

The comprehensive study of whole sets of genes and their interactions rather than single genes or proteins. Genomics is stimulating the discovery of breakthrough health-care products by revealing thousands of new biological targets for the development of drugs and by giving scientists innovative ways to design new drugs, vaccines and DNA diagnostics.

Damaging to DNA; pertaining to agents (radiation or chemical substances) known to damage DNA, thereby causing mutations or cancer.

Substances which damage or modify deoxyribonucleic acid (DNA).

(ICH Q3C (R4)) carcinogens that produce cancer by affecting genes or chromosomes.

Waste that contains substances with genotoxic properties, e.g., cytostatic drugs such as melphalan or tamoxifen.