Genetic Testing: An Industrial Perspective

Abstract

Modern genetic testing relies on a wide spectrum of cytogenetic and molecular genetic methods. The decision as to which method and application achieves the best diagnostic result is made by the medical expert based on a suspected diagnosis. Diverse processing steps have to be passed till a clinical diagnosis is finally secured, especially for genetically heterogeneous diseases like neuromuscular disorders. The accomplished diagnostic pipeline may be carried out by multiple processing units or in one centralized facility offering the whole sample workflow. The challenges for such diagnostic units are diverse. On one side, they have to generate and maintain a validated, standardized workflow meeting the highest quality requirements. Additionally, the ability to adjust to the changing field of genetic testing methods, to process urgent samples (e.g., from pregnant women), or to deal with uncommon sample material still has to be guaranteed. Here, we describe how methods for genetic testing are applied for diagnostics, the creation of a standardized sample workflow for next-generation sequencing (NGS)-based diagnostic gene panels, and how a high degree of automation and quality may be achieved while flexibility is retained.