Sanger Sequencing: Still the Gold Standard?
In trying to distinguish between clinical diagnostic testing andresearch projects, words “validated” and “regulated” are mentioned most often.Strict regulations govern the space of clinical diagnostics, to certify theclinical and technical validity. It is based on the results of these tests thatdiagnoses will be established and patients will be treated; thus, thelaboratory performing the tests carries a high degree of responsibility. TheCenters for Medicare and Medicaid Services (CMS) regulates all laboratorytesting performed on humans in the United States through CLIA—the ClinicalLaboratory Improvement Amendments (see cms.gov/clia). NGS Sequencing-basedlaboratory-developed tests (LDTs) fall under the category of high-complexitytesting in CLIA guidelines. In our opinion, the following factors contribute tothe clinical acceptance and diagnostic use of NGS-based testing.
