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Sequencing technologies
What are the factors and challenges of implementing next generation sequencing in a molecular diagnostic laboratory?
There are many challenges and issues in implementing next generation sequencing for molecular diagnostics, which is usually done in clinical setting where the results can infer the type of treatment the patient might undergo as well as assisting in the provision of an accurate diagnosis of the disease type.
The key challenges to implementing next generation sequencing in molecular diagnostic laboratory are:
- Ensure there is enough space available to implement the library preparation step away from the sequencing step.
- Obtain positive controls for all mutations in various diseases, which can be used to ensure the run has correctly called a specific mutation. Ideal positive control samples are cell lines with engineered mutations.
- Determine the type of sequencing approach to use e.g., whole genome, whole exome or panels together with choice of sequencing.
- Ensure the laboratory has clinical accreditation (chapter 2, section 2.3).
- Build custom made bioinformatics pipeline to cope with the specific samples that are being processed in the laboratory.
- Enlist a clinical geneticist to check reports that are being generated from the sequencing pipeline and to match the results to available treatments.