Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology's Clinical Genomics Bioinformatician Body of Knowledge Steering Committee.

Abstract

The use of next-generation sequencing and other high-throughput technologies in the clinical molecular diagnostics laboratory requires the application of bioinformatics pipelines and other computational tools to analyze, visualize, and store these clinical data. Clinical bioinformaticians, individuals with the skills to develop, validate, and deploy these tools in a clinical setting, are needed to ensure that these molecular diagnostic technologies can be appropriately used for clinical care. Building on existing expertise in informatics, next-generation sequencing, and clinical molecular diagnostics, the Association for Molecular Pathology has generated a series to establish an initial clinical bioinformatician body of knowledge. These articles cover the potential roles of the clinical bioinformatician, assist molecular laboratory and clinical bioinformatics directors in understanding the various roles of the clinical bioinformatics team members, and provide guidance regarding the competencies and skill sets required. The three articles within this Body of Knowledge cover the following knowledge cores: i) Molecular Diagnostics, ii) Clinical Bioinformatics, Software, and Database Knowledge, and iii) Clinical Laboratory Regulation and Data Security. Many of the topics covered in these articles are broad and rapidly evolving; therefore, this Association for Molecular Pathology Clinical Bioinformatician Body of Knowledge article series is designed to provide an initial framework for the core bioinformatics skills required to function successfully within a molecular diagnostic laboratory.