Table 1. Range of currently envisioned uses of NGS.

“Expected use” has some similarities to the FDA regulatory term “intended use,” but because there are differences in the details, we simplify here to “expected use.”

TestExpected use
Noninvasive fetal testingTo report chromosomal abnormalities
known to be associated with harmful
or lethal phenotypes
Targeted gene panels to test a
patient’s tumor
To report any somatic mutations
in known cancer driver genes
Carrier tests for individuals of
reproductive age
To report whether an individual carries
known or new pathogenic mutations in
known heritable disease genes
Whole-genome sequencing tests
for children with congenital diseases
or conditions
To aid in discovery and mechanistic
elucidation of likely causal mutations
Whole-genome sequencing tests
for patients with end-stage cancers
To detect neoantigens that can be
used for immune-therapy applications
Whole-genome sequencing tests for
individuals to calculate risk of
common disease
To detect variants associated with risk for a wide
range of phenotypes, including rare diseases,
common diseases, and drug responses