Methods Towards Clinical Actionability of Next Generation Sequencing


Precision Medicine necessitates continuously measuring the certainty with which the right patient receives the right treatment at the right time. Common clinical presentations are increasingly binned into detailed diagnoses that precede the selection of targeted therapies. These efforts reduce trial-and-error drug selection and dosing, misdiagnoses, and reactive treatments. For a few but growing number of patients, highly sensitive molecular tests such as next generation sequencing (NGS) have enabled genotypic insights into the interrelated molecular drivers of common clinical phenotypes. Various precision medicine initiatives collectively aim to scale biomarker-informed treatment regimens in the context of regulatory modernization and synergistic public-private partnerships. Clinical diagnoses are thus increasingly sub-classified using data available decades earlier than what becomes clinically apparent into categories that portend the course of disease and imply response to treatment. Considerable challenges remain for widespread clinical adoption of this paradigm for patient management. A case of NGS utilized in the intensive care unit illustrates the need for orthogonal measurements in validating molecular assays for actionable clinical implementation.

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