Glossary of Consumer Genomics

Gene:

• a gene is the basic functional unit of heredity. Genes are made up of DNA.

Genetics:

• the study of a single gene and its effect on human health. For example, a mutation of the CFTR gene causes cystic fibrosis.

Genomics:

• the study of all human genes, including their interaction with environment factors such as smoking and diet.

Single Nucleotide Polymorphism (SNP):

• a single basepair variation in the DNA that might differ from person to person. SNPs can be used to profile a person’s genomic information. Currently, up to 2 millions of SNPs can be measured on a single microarray.

Microarray:

• a technology to measure SNPs or mRNAs.

Disease:

• most diseases are caused by the interaction of the genome and the environment.

Genomic Testing:

• the measurement of a person’s SNPs using microarray or other technologies. Sometimes, it is also called genetic testing in the mass media.