Table 1.
“Traditional” genetic testing (individual tests or panels of individual tests) | Whole genome sequencing | Whole exome sequencing | |
---|---|---|---|
Description | Evaluates one area or a defined number of areas of the genome for a particular outcome that is hypothesized based on symptoms and/or family history | Maps the organism’s entire genetic code with no predetermined target | Maps the organism’s genetic code found within the exons with no predetermined target |
Typical use of results | Confirm or rules out a hypothesis | Used to create hypotheses; provides a resource that cannot fully be interpreted at time of testing, but that can be referenced over time |