Table 2.

Definitions of genomic sequencing terms observed in BASIC3 disclosure sessions.

Term	Definition
Actionable	Pathogenic variants that suggest medical intervention is necessary, such as those found in genes listed in the American College of Medical Genetics and Genomics (ACMG) 2016 policy statement regarding reporting of secondary findings [23].
Carrier / Carrier status	A patient with a single pathogenic variant in a gene known to be associated with conditions inherited in a recessive manner. A carrier is not at risk to have the condition, but could pass the pathogenic variant on to their children.
At risk	Average population risk to develop a condition.
	Example: The general population risk for a woman to develop breast cancer is 12%. All women are at risk to develop breast cancer.
Increased risk	Risk to develop a condition increased beyond the average population risk.
	Example: A woman with a BRCA1 pathogenic variant has a 65% chance to develop breast cancer by age 70 [24]. She is at increased risk to develop breast cancer.
Pathogenic variant / Deleterious mutation	A change in a gene sequence that can cause disease. This is a classification made by the clinical testing laboratory, consistent with the terminology recommended by ACMG in 2015 [25].
Pathway	A sequence of gene or protein interactions.
Sequencing	Laboratory test used to identify changes in a gene’s nucleotide code.
Variants of uncertain / unknown significance	Novel or rare changes in a gene sequence, for which the clinical implications for the patient are unknown. This is a classification made by the clinical testing laboratory consistent with the 2015 ACMG guidelines, and may change as additional sequencing data becomes available [25].