“At times, the sheer quantity of information provided by NGS leads to more questions than answers, a concept known as the Next-Generation Sequencing Paradox:41 the more genes tested in a panel, the greater the likelihood of VUS detection and the greater the ambiguity of the test results. “
“The analytic and clinical sensitivity of NGS workflows can vary considerably, particularly for prevalent, technically challenging variants. This can have important implications for the design and validation of tests (by laboratories) and the selection of tests (by clinicians) for a wide range of clinical indications.”
“In the U.S., clinical genetic and genomic testing labs provide diagnostic, predictive, prognostic, and theragnostic tests with perceived clinical value—a perception is frequently untethered from reality. This means that many patients are inadvertently harmed when well-meaning clinicians use low-value and inaccurate tests in patient care.”
“Molecular diagnostic techniques are part of the ancillary arsenal of anatomic pathologists. Advances in technology and knowledge regarding disease pathogenesis, tumorigenesis, and immune function contribute to the development of these assays. However, each technique, if applied incorrectly or in ignorance, can lead to difficulties in execution or errors in interpretation.”
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