Next Generation Sequencing Clinical Report Interpretation Expert Group. Standards and Guidelines for the Interpretation of Next Generation Sequencing Clinical ReportsJ. Journal of Evidence-Based Medicine, 2020, 20(4): 193-202. DOI: 10.12019/j.issn.1671-5144.2020.04.001
Citation:
Next Generation Sequencing Clinical Report Interpretation Expert Group. Standards and Guidelines for the Interpretation of Next Generation Sequencing Clinical ReportsJ. Journal of Evidence-Based Medicine, 2020, 20(4): 193-202. DOI: 10.12019/j.issn.1671-5144.2020.04.001
Next Generation Sequencing Clinical Report Interpretation Expert Group. Standards and Guidelines for the Interpretation of Next Generation Sequencing Clinical ReportsJ. Journal of Evidence-Based Medicine, 2020, 20(4): 193-202. DOI: 10.12019/j.issn.1671-5144.2020.04.001
Citation:
Next Generation Sequencing Clinical Report Interpretation Expert Group. Standards and Guidelines for the Interpretation of Next Generation Sequencing Clinical ReportsJ. Journal of Evidence-Based Medicine, 2020, 20(4): 193-202. DOI: 10.12019/j.issn.1671-5144.2020.04.001
Standards and Guidelines for the Interpretation of Next Generation Sequencing Clinical Reports
No content published by the Journal of Evidence-Based Medicine may be reproduced or abridged without authorization. Please do not use or copy the layout and design of the journal without permission.
All articles published represent the opinions of the authors, and do not reflect the official policy of the Journal of Evidence-Based Medicine’ Sponsors or the Editorial Board, unless this is clearly specified.
In China, next generation sequencing(NGS) has became a common molecular testing tool used by clinical oncologists, however, NGS clinical reports could be overwhelming for some clinicians who are unfamiliar with NGS. Approximately 90% of clinicians are dependent on external support for the interpretation of NGS reports. In order to improve the clinicians' ability to interpret and derive more information from NGS reports, a working group comprised of clinical oncologists and NGS professionals from all over China have compiled relevant standards and guidelines to equip the clinicians with the knowledge to identify the key information and avoid the over-interpretation of genomic information from NGS clinical reports. This article provides a detailed introduction on the logically structured evidenced-based principles of NGS reports including the interpretation of somatic mutations related to clinical targets or driver genes, the proper interpretation of genomic results to inform clinical decision-making, reportable scope, sample quality control, and other relevant information included in NGS clinical reports. With a better grasp on the information from NGS reports, the clinicians should be able to integrate the basic clinical information, other past or present test results, and the molecular profile of the patient to comprehensively assess the patient's disease and tailor a treatment strategy that will benefit the patient.