Genetic information: information about an individual’s genetic tests or the genetic tests of the individual’s family members and the manifestation of a disease or disorder in the individual’s family members. Furthermore, genetic information also includes the request or receipt of genetic services or participation in clinical research that includes genetic services, for both the individual and the individual’s family members.

Information regarding an individual’s sex or age is not protected genetic information under GINA.

Genetic test: the analysis of human DNA, RNA, chromosomes, proteins, or metabolites that detects genotypes, mutations, or chromosomal changes.

Under GINA, a genetic test does not include the analysis of proteins or metabolites directly related to the manifestation of a disease that could reasonably be detected by a healthcare professional with appropriate training and expertise in the field of medicine involved.

In the health insurance provisions of GINA (Title I), the definition of a genetic test does not include the following:

It is important to note that the second exclusion listed above does not appear in the employment provisions of the law (Title II); therefore, this exception does not apply in the workplace. In other words, it is okay for insurers to underwrite based on information that reveals information about current health status. However, employers may not use that same information to make employment decisions.

Examples of tests covered by GINA: tests for BRCA1/BRCA2 (breast cancer) or HNPCC (colon cancer) mutations; tests for Huntington’s disease mutations; carrier screening for disorders such as cystic fibrosis and fragile X syndrome; and classifications of genetic properties of an existing tumor to help determine therapy.

Examples of tests not covered by GINA: routine tests such as routine blood counts, cholesterol tests, and liver-function tests.

Genetic services: a genetic test, genetic counseling, genetic education, or participation in a research study.

Family member: a dependent or any other individual who is a first, second, third, or fourth degree relative.

Genetic monitoring: the periodic examination of employees to evaluate acquired modifications to their genetic materials such as chromosomal damage or evidence of increased occurrence of mutations that may have developed in the course of employment due to exposure to toxic substances in the workplace, to identify, evaluate, and respond to the effects or control adverse environmental exposures in the workplace.