Table 1.

Definitions

Term	Definition
Precision medicine	Using information about an individual’s genetic make-up, lifestyle and environment to prevent, diagnose or treat disease.
Multi-gene panel	Tests that analyze multiple genes through next generation sequencing with the resulting test report providing multiple test results.
Single-gene test	Tests that analyze the DNA sequence of a single gene.
Whole-exome sequencing	Determines the genetic sequence of all the protein coding regions of a person’s genome (∼1% of the genome).
Whole-genome sequencing	Determines the genetic sequence of an individual’s entire genome, ∼3 billion nucleotides.
Clinical utility	Whether use of the test leads to a change in medical management and a change in patient health outcomes.
Clinical validity	How consistently and strongly the genetic variants identified by the test relate to the presence, absence or risk of a specific disease.

Precision medicine: https://ghr.nlm.nih.gov/primer/precisionmedicine/definition

Multi-gene panel: https://www.cancer.gov/publications/dictionaries/genetics-dictionary?cdrid=763019

Single-gene test: https://ghr.nlm.nih.gov/primer/testing/genetictesting

Whole exome-sequencing: http://www.nature.com/jhg/journal/v59/n1/full/jhg2013114a.html

Clinical utility: http://www.cdc.gov/genomics/hugenet/file/print/pub_clincalUtility.pdf

Clinical validity: https://ghr.nlm.nih.gov/primer/testing/validtest