dominant. In an individual with two different alleles for a particular gene, the dominant allele determines the observed phenotype.

epigenetics. Changes in an organism’s phenotype by changes in gene expression that are not a result of the organism’s genome sequence.

FDCA. Food, Drug, and Cosmetic Act of 1938.

GINA. Genetic Information Nondiscrimination Act of 2008.

GWAS. Genome-wide association study.

genotype. An individual organism’s entire, exact genetic makeup, including all its alleles—regardless of whether or not those alleles are expressed.

HIPAA. Health Insurance Portability and Accountability Act of 1996.

haplotype. A set of alleles on a chromosome that tend to be inherited together.

HapMap. A haplotype map of a consensus human genome. The HapMap is a catalog of common genetic variants that occur in human beings. It describes what these variants are, where they occur in human DNA, and how they are distributed among people within populations and among populations in different parts of the world.

heterozygous. Having two different variations (alleles) of a DNA sequence.

highly penetrant. See penetrance.

homozygous. Having two identical alleles for a particular DNA sequence.

informed consent. An ethical and legal requirement in both clinical practice and in research with human participants that is necessary to ensure that an individual patient or client is aware of the risks and benefits of participating in research or of undergoing a clinical procedure. The individual must be informed of the nature of the procedure, possible alternatives, and any costs and potential risks as well as benefits.

LDT. Laboratory-developed test.

MDA. Medical Device Amendments of 1976.

Mendelian disorder. A disorder that has a strong association with a single gene. Also called a single-gene disorder.

The National Academies of Sciences, Engineering, and Medicine
500 Fifth St. N.W. | Washington, D.C. 20001

Copyright © National Academy of Sciences. All rights reserved.
Terms of Use and Privacy Statement