Standardization in next-generation sequencing - Issues and approaches of establishing standards in a highly dynamic environment

2 generation sequencing or better known as next-generation sequencing (NGS) represents a cutting-edge technology in life sciences and current foundation for unravelling nucleotide sequences. Since advent of first platforms in 2005 the number of different types of NGS platforms increased in the last 10 years in the same manner as the variety of possible applications. Higher throughput, lower cost and better quality of data were the incentive for a range of enterprises developing new NGS devices, whereas economic issues and competitive pressure, based on expensive workflows of obsolete systems and decreasing cost of market leader platforms, resulted simultaneously in accelerated vanishing of several companies. Due to the fast development, NGS is currently characterized by a lack of standard operating procedures, quality management/quality assurance specifications, proficiency testing systems and even less approved standards along with high cost and uncertainty of data quality. These aspects represent major obstacles for essential implementation of NGS in important areas such as clinical diagnostics, where reliable results, traceable and reproducible data as well as fast processing are crucial. On the one hand, appropriate standardization approaches were already performed by different initiatives and projects in the format of accreditation checklists, technical notes and guidelines for validation of NGS workflows. On the other hand, these approaches are exclusively located in the US due to origins of NGS overseas, therefore there exists an obvious lack of European-based standardization initiatives. Furthermore, market leaders like Illumina, Inc. aim to establish their own standards and are likely not willing to be forced by a general standard in NGS. An additional problem represents the validity of promising standards across different NGS applications. Due to highest demands and regulations in specific areas like clinical diagnostics, the same standards, which will be established there, will not be applicable or reasonable in other applications. These points emphasize the importance of standardization in NGS mainly addressing the laboratory workflows, which are the prerequisite and foundation for sufficient quality of downstream results, i.e. sequence data. Therefore, this presentation exhibits specifically standardization opportunities in the upstream pipeline and provides only a brief remark in the context of standardization in bioinformatics. To summarize, the presentation will give an overview about current standardization efforts, enlighten the problems associated with developing standards and show examples about possible standards and de facto standards primarily addressing the NGS upstream pipeline.