Glossary

Analytical validity "refers to how well the test predicts the presence or absence of a particular gene or genetic change. In other words, can the test accurately detect whether a specific genetic variant is present or absent?" ("How Can Consumers Be Sure a Genetic Test is Valid and Useful?" Genetics Home Reference, US National Library of Medicine. Accessed April 18, 2018).

"A facility that collects, catalogs, and stores samples of biological material, such as urine, blood, tissue, cells, DNA, RNA, and protein, from humans, animals, or plants for laboratory research. If the samples are from people, medical information may also be stored along with a written consent to use the samples in laboratory studies." (NCI Dictionary of Cancer Terms, National Cancer Institute. Accessed April 18, 2018).

The LawSeq^SM database collects reported judicial decisions that were issued in litigated cases.

The Centers for Disease Control and Prevention (CDC) serves as the national "focus for developing and applying disease prevention and control, environmental health, and health promotion and health education activities designed to improve the health of the people of the United States." (Library of Congress. Accessed April 15, 2026).

The federal Clinical Laboratory Improvement Amendments. "The Centers for Medicare & Medicaid Services (CMS) regulates all laboratory testing (except research) performed on humans in the US through the CLIA rules." (Centers for Medicare & Medicaid Services. Accessed April 30, 2018).

"A research study in which one or more human subjects are prospectively assigned to one or more interventions (which may include placebo or other control) to evaluate the effects of those interventions on health-related biomedical or behavioral outcomes." ("NIH's Definition of a Clinical Trial." Office of Extramural Research, National Institutes of Health. Accessed May 10, 2018). 

"Clinical validity refers to how well a genetic variant being analyzed is related to the presence, absence, or risk of a specific disease. Clinical utility refers to whether a test can provide information about diagnosis, treatment, management, or prevention of a disease that will be helpful to a consumer." ("How Can I Be Sure a Genetic Test is Valid and Useful?" Genetics Home Reference, US National Library of Medicine. Accessed April 27, 2022).

The Centers for Medicare & Medicaid Services "is the federal agency that runs the Medicare program. In addition, CMS works with the States to run the Medicaid program. CMS works to make sure that the beneficiaries in these programs are able to get high quality health care." (Glossary, Centers for Medicare & Medicaid Services. Accessed May 7, 2018).

The "Common Rule" refers to the section of HHS regulations governing research with human participants that is followed by multiple federal agencies. ("Federal Policy for the Protection of Human Subjects ('Common Rule')," Office for Human Research Protections, US Department of Health & Human Services. Accessed June 13, 2018). 

Researchers who work with human participants are required to maintain confidentiality, which means that "with limited exceptions, researchers may not disclose names or any information, documents or biospecimens containing identifiable, sensitive information. . . . [This refers to] information about an individual, gathered or used during the course of biomedical, behavioral, clinical or other research, through which the individual is identified, or there is at least a very small risk that some combination of the information, a request for the information, and other available data sources could be used to determine the identity of an individual. . . . Identifiable, sensitive information includes but is not limited to name, address, social security or other identifying number; and fingerprints, voiceprints, photographs, genetic information, tissue samples, or data fields that when used in combination with other information may lead to identification of an individual." ("General Information on Certificates." Certificates of Confidentiality Kiosk, National Institutes of Health. Accessed May 7, 2018).