PerspectiveRegulatory Science

A research roadmap for next-generation sequencing informatics

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Science Translational Medicine  20 Apr 2016:
Vol. 8, Issue 335, pp. 335ps10
DOI: 10.1126/scitranslmed.aaf7314



  • 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

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