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NGS testing in clinical practice - what to expect

Thalassemias

Thalassemias | October 7, 2022

Staffing requirements

With the ability of NGS to analyze thousands of markers in a single test, implementing a new NGS test enables a more streamlined diagnostic workflow. Depending on the application, many labs find that there is no net impact on the number of staff required, although some level of retraining will be needed initially and competency maintained for the new method.

Breadth of assay technologies

When migrating to an NGS-based diagnostic workflow, in most cases the breadth of assay technologies being used does not change, but the frequency and volume of their use will shift. For example, if NGS replaces an allele specific detection method, Sanger sequencing or GAP-PCR as a primary diagnostic test for a particular disease state, the legacy tests will typically still be needed, but as secondary tests they would be run less often.

Assessing the impact on workflows

When assessing the potential impact of a new NGS test and/or diagnostic routine, the first step is to map out your current testing workflow and compare it side by side with the proposed NGS solution. This will help you spot opportunities to replace or consolidate work streams, compare turnaround times, and understand how the balance of activities in the lab is likely to change.

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