Next-Generation Sequencing in the Research and Clinic Settings

Although whole-genome sequencing can identify an individual’s entire DNA sequence, only information from approximately 3% of the genome can be used in clinical practice; thus, whole-genome sequencing is more fruitful in the research setting than in the clinic. However, many actionable mutations can be identified using next-generation sequencing methods, including hot spot assessment, and a sampling of these mutations and corresponding FDA-approved targeted therapies are provided in the table below.

Selected actionable targets, FDA-approved targeted therapies and indications.

Abbreviations: AML, acute myeloid leukemia; CML, chronic myeloid leukemia; GCTB, giant-cell tumor of the bone; GIST, gastrointestinal stromal tumors; NSCLC, non–small cell lung cancer.

For patients, the costs of some next-generation sequencing methods available for clinical use to guide therapy decisions are now manageable, and many next-generation sequencing panels are covered by insurance for approved indications. For more information on next-generation sequencing in the clinical setting, please refer to the “Genomic Medicine in the Clinical Practice” module.

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