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A regulatory framework for sequencing based diagnostics
The US Food and Drug Administration (FDA) held a one day workshop in June to discuss challenges in assessing the analytical validity when next generation sequencing (NGS) technologies are used for clinical applications.
This multi-stakeholder workshop addressed how sequencing platforms can be analytically evaluated prior to their adoption for clinical uses. Issues that were discussed included the evaluation of instrument accuracy in generating sequences and bioinformatics aspects such as data analysis and storage. The conclusion was that a broad framework should be applied which takes into consideration the different applications of NGS. This framework should consider the requirements for laboratory accreditation, the specific clinical application and confidence in identifying particular variants (i.e. outcome of the test). No timeline was set for the issue of guidance on this matter.
The number of NGS platforms, differences in their performance metrics and the applications they can be used for, ranging from whole genome sequencing to targeted gene sequencing, can make evaluation difficult. In addition, this is a dynamic field meaning that any framework will have to be flexible to changes in the technologies and their applications. As sequencing is already beginning to be used in the clinical setting, considering these issues is an important aspect of ensuring their safe implementation. The PHG Foundation is undertaking a project looking at the impact of new DNA sequencing technologies for health.