Table 1.

Key terms. Definitions were adapted from the National Human Genome Research Institute’s Talking Glossary of Genetic Terms [43], the National Cancer Institute’s Dictionary of Genetics Terms [44], the Genetics Home Reference [45], the World Health Organization’s web site [46], and the CSER TOOLKIT [47].

Genomic testing	A laboratory process that can identify changes in multiple genes. Genomic testing can include exome and genome sequencing.
Genome sequencing	A laboratory process that determines nearly all of the approximately 3 billion nucleotides of an individual’s complete DNA sequence, including noncoding sequences.
Exome sequencing	A laboratory process that is used to determine the nucleotide sequence primarily exonic (or protein-coding) regions of an individual’s genome and related sequences, representing approximately 1% of the complete DNA sequence.
Newborn genomic sequencing	A laboratory approach, currently under study, that uses genomic testing to collect and analyze large amounts of DNA sequence data in the newborn period. https://ghr.nlm.nih.gov/primer/newbornscreening/newborngenomicsequencing
Monogenic disease	Disease that result from modifications in a single gene occurring in all cells of the body.
Carrier status	In order to have some diseases, an individual must usually have two mutated copies of a gene. “Carrier status” is positive when an individual has one normal copy of a gene and one mutated copy of a gene. With rare exceptions, individuals with positive carrier status not expected to develop the disease.
Pharmacogenomics	Pharmacogenomics is a branch of pharmacology concerned with using DNA and amino acid sequence data to inform drug development and testing. An important application of pharmacogenomics is correlating individual genetic variation with drug responses.